KMH2

SNPEFF_GENE_NAME CHROM POS REF SEQ ALT SEQ BaseCounts SNPEFF_AMINO_ACID_CHANGE SNPEFF_CODON_CHANGE

CDK11A 1 1647893 C CTTTCTT 0,62,0,2 -117KK -/AAGAAA

C1orf222 1 1918415 A T 8,0,0,9 V119E gTg/gAg

MEGF6 1 3417867 G T 1,0,17,10 P669T Ccc/Acc

RPL22 1 6253022 GATC G 0,0,27,0 KI69N aagatc/aac

MTOR 1 11182151 G A 19,0,21,0 T2232I aCc/aTc

ZNF436 1 23688470 T C 0,32,0,48 T301A Acg/Gcg

RPS6KA1 1 26887264 G T 0,0,38,21 K329N aaG/aaT

KIAA1522 1 33235862 C T 0,15,0,34 P302L cCg/cTg

KIAA1522 1 33235891 C T 0,14,0,31 R312C Cgc/Tgc

ZMYM6 1 35454289 G T 0,0,37,21 N798K aaC/aaA

RRAGC 1 39322706 T C 0,29,0,12 T96A Acc/Gcc

WDR65 1 43692750 G T 1,0,39,21 E988* Gaa/Taa

PTPRF 1 44056825 G A 7,0,21,0 G378S Ggc/Agc

SLC6A9 1 44482799 C T 0,46,0,83 G3S Ggc/Agc

CYP2J2 1 60359330 T G 0,0,40,86 Q501P cAg/cCg

ROR1 1 64608324 C T 1,158,1,59 P389S Cca/Tca

DNAJC6 1 65878649 A C 24,41,1,0 M882L Atg/Ctg

RPE65 1 68904763 A C 23,34,0,0 V287G gTt/gGt

SAMD13 1 84853997 G A 9,0,11,0 C35Y tGc/tAc

ODF2L 1 86814453 A T 14,0,0,17 Y508N Tat/Aat

S1PR1 1 101705926 C G 0,2,14,0 S445C tCt/tGt

VAV3 1 108212023 T A 13,0,1,24 K552* Aag/Tag

GPR61 1 110086062 C T 0,21,0,20 R140C Cgc/Tgc

CD58 1 117078585 AC A 26,2,0,0 NA NA

SPAG17 1 118584434 T C 0,59,0,57 T1016A Act/Gct

NOTCH2 1 120506353 C T 1,14,0,21 G548S Ggt/Agt

CTSS 1 150727578 G T 0,0,110,59 Q100K Cag/Aag

LOR 1 153233748 G C 0,7,4,0 G108A gGg/gCg

SLC27A3 1 153747641 G A 25,0,8,0 G18R Ggg/Agg

PBXIP1 1 154917582 T G 0,0,7,19 K481T aAg/aCg

LY9 1 160769579 T A 19,0,0,15 V14E gTg/gAg

NDUFS2 1 161173235 G A 15,0,19,0 R35Q cGg/cAg

GPA33 1 167025041 G A 13,0,26,0 S206L tCg/tTg

FMO1 1 171236796 C T 0,27,0,29 P83S Cca/Tca

C1orf9 1 172557911 CTGAAGTA C 0,29,1,0 NA NA

PAPPA2 1 176564571 G A 18,0,4,0 D611N Gac/Aac

CACNA1E 1 181695247 A C 14,11,0,0 Q337P cAg/cCg

IGFN1 1 201175724 C T 0,32,0,15 A568V gCt/gTt

TNNT2 1 201338975 TG T 0,2,0,52 NA NA

PLXNA2 1 208315703 G A 33,0,82,2 R493C Cgc/Tgc

HHAT 1 210761304 C T 0,21,0,61 A232V gCg/gTg

USH2A 1 216061961 C A 53,22,1,0 R2677M aGg/aTg

USH2A 1 216221975 A C 9,22,0,0 L2022V Ttg/Gtg

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EPRS 1 220152058 C A 25,13,0,0 V1305L Gtg/Ttg

BROX 1 222903371 T C 0,28,0,59 Y249H Tat/Cat

DNAH14 1 225328481 G A 11,0,2,0 M1021I atG/atA

CHRM3 1 240071430 A C 1,16,0,0 S227R Agt/Cgt

C1orf101 1 244780961 G A 36,0,36,1 R723H cGt/cAt

KIF26B 1 245849386 C T 1,13,0,11 A1034V gCc/gTc

TPO 2 1544638 G A 27,0,40,1 R849K aGg/aAg

NBAS 2 15326982 T A 51,0,0,122 R2079* Aga/Tga

AC010872.2 2 21361946 T A 17,0,0,38 L536* tTa/tAa

AC010872.2 2 21362506 T A 34,0,0,18 S723T Tcc/Acc

KIF3C 2 26203285 C T 0,41,1,16 R307Q cGg/cAg

AGBL5 2 27277596 G A 24,0,25,0 R217Q cGa/cAa

BIRC6 2 32770923 C G 0,27,35,0 T4269S aCt/aGt

FEZ2 2 36805745 C T 0,4,1,12 G129S Ggc/Agc

ATL2 2 38526412 T C 0,20,0,33 K225E Aaa/Gaa

NRXN1 2 50733732 C CA 2,146,0,0 NA NA

MOGS 2 74689399 C T 0,27,0,39 R400Q cGa/cAa

CCDC142 2 74709244 CCGT C 0,104,0,0 T240- acg/-

CNNM4 2 97427233 AGGACTCACTGCTCTTCATGGTGGAGGAGCCTG A 109,1,1,0 NA NA

UNC50 2 99226317 A G 22,0,13,0 Y32C tAc/tGc

LONRF2 2 100903408 C A 33,24,0,0 G437W Ggg/Tgg

RANBP2 2 109388234 G A 21,0,11,0 E1667K Gag/Aag

PSD4 2 113943594 T C 0,17,0,12 S436P Tcg/Ccg

EPB41L5 2 120900619 T G 0,0,9,6 V547G gTc/gGc

R3HDM1 2 136467785 T A 8,0,0,9 V743E gTa/gAa

CCDC148 2 159077170 T G 2,0,85,40 D436A gAt/gCt

TANC1 2 160086649 C T 0,29,0,22 A1465V gCt/gTt

BAZ2B 2 160194043 T C 0,42,0,91 I117V Atc/Gtc

ITGB6 2 160994160 TG T 0,1,0,44 NA NA

FAP 2 163031466 C T 0,51,0,29 G602E gGa/gAa

FAP 2 163031467 C T 0,49,0,28 G602R Gga/Aga

XIRP2 2 168105291 G GA 0,0,121,1 NA NA

HOXD9 2 176988675 GA G 1,0,27,0 NA NA

HOXD1 2 177054005 A T 9,0,0,35 E159V gAa/gTa

HOXD1 2 177054008 C G 1,9,34,0 P160R cCc/cGc

TTN 2 179413847 T G 0,0,95,54 T21768P Aca/Cca

TTN 2 179414764 C T 0,17,0,46 A21533T Gcc/Acc

TTN 2 179448499 A G 16,0,53,0 W12737R Tgg/Cgg

TTN 2 179611190 C A 31,65,0,0 E5313* Gaa/Taa

TTN 2 179640329 T C 0,86,0,46 T2042A Aca/Gca

FSIP2 2 186670804 G T 0,0,1,28 D5591Y Gat/Tat

SPATS2L 2 201342380 C T 0,0,1,42 R366W Cgg/Tgg

RAPH1 2 204304184 GT G 0,0,44,0 NA NA

CXCR2 2 219000111 G A 23,0,37,0 C196Y tGc/tAc

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PID1 2 229890382 T C 0,32,1,1 E158G gAg/gGg

NCL 2 232325459 GTCC G 0,20,111,0 ED243D gaggac/gac

ILKAP 2 239102934 C T 0,0,0,33 A54T Gct/Act

GRM7 3 6903151 T G 0,0,6,17 C26G Tgc/Ggc

SLC6A11 3 10980068 GAGA G 0,1,106,0 EK627E gagaag/gag

RAF1 3 12650410 A T 26,0,0,26 F146I Ttc/Atc

C3orf20 3 14813628 G T 0,0,37,13 E728D gaG/gaT

DAZL 3 16679466 T G 0,0,13,39 I15L Att/Ctt

UBE2E2 3 23250230 A G 17,0,32,0 T14A Act/Gct

XIRP1 3 39230110 C T 0,30,0,31 R276Q cGg/cAg

TMEM42 3 44905761 A C 78,42,0,0 S89R Agc/Cgc

CSPG5 3 47619289 G T 0,0,1,12 T76K aCg/aAg

APPL1 3 57301785 G A 18,0,45,0 G620R Gga/Aga

C3orf67 3 58834975 G T 0,0,60,40 S165Y tCc/tAc

FOXP1 3 71101725 A G 37,0,21,0 L158P cTt/cCt

PLXND1 3 129276031 C G 0,12,14,0 E1827D gaG/gaC

PPP2R3A 3 135745928 GA G 0,0,58,0 NA NA

DZIP1L 3 137786510 T C 0,11,0,28 E622G gAg/gGg

DZIP1L 3 137786511 C A 11,28,0,0 E622* Gag/Tag

CEP70 3 138256107 T A 16,0,0,26 K162I aAa/aTa

XRN1 3 142151615 G A 20,0,11,0 H66Y Cac/Tac

SHOX2 3 157815860 G C 0,38,12,0 L177V Ctc/Gtc

IFT80 3 159976344 T C 0,12,0,20 Q631R cAa/cGa

SAMD7 3 169654211 G A 122,0,59,0 G376R Ggg/Agg

TBL1XR1 3 176755960 T C 0,14,0,39 N212D Aat/Gat

CCDC39 3 180334365 A G 56,0,23,0 L14S tTa/tCa

MUC4 3 195517297 T C 0,75,0,30 N359S aAt/aGt

TNK2 3 195597168 G A 22,0,2,0 P520L cCg/cTg

GAK 4 843751 C T 0,11,1,19 A1176T Gcc/Acc

GRK4 4 2965776 C CCGG 0,25,0,0 P23PA ccg/cCGGcg

CPEB2 4 15004584 A T 83,0,0,32 E96V gAg/gTg

FAM200B 4 15688673 G A 11,0,31,0 V25I Gtt/Att

PCDH7 4 30725010 A C 19,8,0,0 S609R Agc/Cgc

N4BP2 4 40103810 A C 78,46,0,0 K115N aaA/aaC

AFM 4 74364905 T A 22,0,0,33 V455E gTg/gAg

CCDC158 4 77274417 T A 28,0,0,48 K768N aaA/aaT

CCDC158 4 77292577 T C 0,36,0,17 K381R aAg/aGg

PTPN13 4 87735652 C T 0,5,0,10 T2278I aCa/aTa

DSPP 4 88536402 ATAG A 65,0,0,0 NS863N aatagt/aat

PDHA2 4 96761473 G T 0,0,25,13 E58* Gag/Tag

C4orf37 4 98108959 C A 35,15,0,0 R163L cGt/cTt

METAP1 4 99982425 G C 0,35,20,0 R103P cGg/cCg

LEF1 4 109088794 G C 0,24,5,1 P44A Ccc/Gcc

KIAA1109 4 123179870 C T 0,11,0,9 H2212Y Cac/Tac

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KMH2

SPATA5 4 123855717 A T 27,0,0,9 Y324F tAt/tTt

FAT4 4 126242091 C T 1,75,0,43 R1509W Cgg/Tgg

FAT4 4 126372539 T G 0,0,22,47 N1754K aaT/aaG

FREM3 4 144498913 C T 0,14,0,11 G2091R Gga/Aga

RP11-6L6.2 4 147149562 G GC 0,0,29,0 NA NA

DCHS2 4 155241788 G A 15,0,13,0 T1133I aCa/aTa

GUCY1B3 4 156721166 T G 0,0,13,28 L304R cTc/cGc

TDO2 4 156830072 TC T 0,0,1,34 NA NA

FAM198B 4 159052020 G T 0,0,17,14 H130N Cat/Aat

RAPGEF2 4 160131692 G T 0,0,27,19 G75C Ggt/Tgt

TRIM60 4 165961815 AC A 40,0,0,0 NA NA

FAT1 4 187557873 C A 54,2,1,0 D1280Y Gat/Tat

IL7R 5 35876182 A G 128,2,112,0 Q325R cAa/cGa

WDR70 5 37703121 A C 42,39,0,0 S450R Agc/Cgc

RICTOR 5 38960526 T TA 3,0,0,84 NA NA

HEATR7B2 5 41049398 GA G 0,0,53,1 NA NA

GHR 5 42695138 T A 57,0,0,113 L107Q cTa/cAa

IPO11 5 61811219 GA G 0,0,48,0 NA NA

RAD17 5 68710083 CATA C 2,28,0,0 I495- ata/-

RP11-428C6.1 5 73128202 C T 0,30,0,44 S355L tCg/tTg

RP11-428C6.1 5 73128222 C T 0,26,0,51 R362W Cgg/Tgg

GPR98 5 89925278 G C 0,20,0,0 E587D gaG/gaC

SLCO4C1 5 101592987 A C 12,14,0,0 L434R cTc/cGc

SLC25A46 5 110092454 G T 0,0,22,16 V12L Gtg/Ttg

DMXL1 5 118485955 C T 0,38,0,27 P1478L cCg/cTg

CHSY3 5 129520634 C A 17,17,0,0 S600Y tCt/tAt

PCDHA1 5 140166174 C T 0,3,1,19 A100V gCg/gTg

PCDHB14 5 140604113 G A 64,1,46,0 E193K Gaa/Aaa

PCDHGC4 5 140866766 C A 88,63,0,0 L676I Ctt/Att

PDE6A 5 149324034 A C 22,20,0,0 F68C tTt/tGt

EBF1 5 158500420 G T 0,0,15,6 P180T Cca/Aca

EBF1 5 158500450 A C 13,16,0,0 C170G Tgt/Ggt

GABRA6 5 161128549 T C 0,56,0,37 S368P Tct/Cct

FAM65B 6 24840973 T G 0,0,11,12 N601H Aat/Cat

OR12D3 6 29342245 C T 0,10,0,12 A274T Gcc/Acc

C6orf47 6 31627004 C T 0,72,5,62 A241T Gcc/Acc

VARS 6 31760561 C T 0,10,0,9 G212R Gga/Aga

GGNBP1 6 33554498 G A 26,0,14,0 R50H cGc/cAc

ITPR3 6 33633678 T A 12,0,0,6 N492K aaT/aaA

UBR2 6 42571338 C A 17,17,0,0 H182N Cat/Aat

TNFRSF21 6 47252087 T C 0,32,0,22 D277G gAc/gGc

MLIP 6 54002549 C G 0,68,52,0 S509C tCt/tGt

KCNQ5 6 73904505 G A 66,0,92,0 G613S Ggc/Agc

EPHA7 6 94120395 A G 23,0,21,0 V219A gTg/gCg

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KMH2

KLHL32 6 97512587 C T 0,27,0,16 P3S Cca/Tca

SOBP 6 107954904 A T 14,0,0,23 K286* Aaa/Taa

SOBP 6 107955274 C A 77,51,0,1 P409Q cCg/cAg

AKD1 6 109850198 AAAC A 49,0,0,0 V295- gtt/-

AKD1 6 109993220 T A 14,0,0,19 NA NA

LAMA4 6 112469403 T A 24,0,0,23 D763V gAc/gTc

DSE 6 116758048 C G 0,10,10,0 S806* tCa/tGa

FAM184A 6 119345155 G A 27,0,16,0 T208M aCg/aTg

LAMA2 6 129759866 C T 0,21,0,10 T2015I aCt/aTt

ARG1 6 131903802 A G 28,0,35,0 I169M atA/atG

TAAR6 6 132891818 C A 59,68,0,0 L103I Ctc/Atc

NMBR 6 142409647 T A 12,0,0,8 Y50F tAc/tTc

GRM1 6 146720463 T A 46,0,0,35 L763H cTc/cAc

SYNE1 6 152708496 C A 15,12,0,0 S2733I aGc/aTc

SYNE1 6 152777152 T C 0,11,0,5 K433E Aag/Gag

SCAF8 6 155126541 A G 33,0,31,0 H301R cAt/cGt

PDE10A 6 165792761 G A 8,0,4,0 A625V gCt/gTt

CHST12 7 2472977 C G 0,27,26,0 L235V Ctc/Gtc

CARD11 7 2956982 T A 9,0,1,10 D882V gAc/gTc

CARD11 7 2978435 TGTCTGA T 0,0,0,32 SD297- tcagac/-

TNRC18 7 5427366 T C 0,16,0,7 S697G Agt/Ggt

THSD7A 7 11582595 T C 0,6,0,4 K535E Aaa/Gaa

SCIN 7 12610426 T A 8,0,0,5 L5Q cTa/cAa

DNAH11 7 21742390 A T 17,0,0,7 K2088N aaA/aaT

STK31 7 23871902 A T 21,0,0,17 K970* Aaa/Taa

AEBP1 7 44150627 GCC G 0,0,39,0 NA NA

ABCA13 7 48431553 G A 9,1,10,0 G3897E gGa/gAa

EGFR 7 55273148 G C 1,15,12,0 W1027C tgG/tgC

PHTF2 7 77539616 T G 0,0,31,8 S184R agT/agG

PCLO 7 82545928 T C 2,63,1,132 K3792E Aag/Gag

PCLO 7 82586082 G C 0,37,13,0 S1327C tCt/tGt

AC093799.1 7 97937000 C T 0,19,0,18 NA NA

MUC3A 7 100552220 G A 88,0,217,2 G324E gGa/gAa

SLC26A3 7 107408091 T C 0,14,0,0 NA NA

DNAJB9 7 108213714 C T 0,17,0,22 H197Y Cat/Tat

HIPK2 7 139313731 A T 28,0,0,12 Y468N Tac/Aac

ABCB8 7 150730744 C T 0,0,0,169 R50W Cgg/Tgg

AGAP3 7 150817155 C T 0,100,1,114 R116C Cgc/Tgc

DLGAP2 8 1497562 C T 0,59,1,27 L235F Ctc/Ttc

MYOM2 8 2033478 C A 32,2,2,0 P534T Ccc/Acc

RP1L1 8 10480295 T TG 0,0,1,23 NA NA

EFHA2 8 16927217 C T 0,0,0,19 L186F Ctt/Ttt

MCM4 8 48879968 C T 0,2,0,39 T326I aCa/aTa

RB1CC1 8 53570015 T C 0,23,0,30 T792A Act/Gct

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KMH2

MRPS28 8 80942300 G A 13,0,8,0 L62F Ctt/Ttt

PAG1 8 81899679 C T 0,0,0,13 S67N aGc/aAc

LRRCC1 8 86027736 G A 50,0,0,0 E190K Gag/Aag

ESRP1 8 95680368 GTCC G 0,0,21,0 VL234V gtcctc/gtc

CSMD3 8 113246672 T A 68,0,0,136 L2824F ttA/ttT

FER1L6 8 125082837 A C 0,61,0,0 K1322Q Aag/Cag

ZFAT 8 135612740 C A 20,44,0,0 C692F tGt/tTt

ZNF623 8 144732332 G T 0,0,37,22 C57F tGc/tTc

PLEC 8 145007500 G A 32,1,1,0 A396V gCa/gTa

GPT 8 145732336 G C 1,115,3,0 E482Q Gag/Cag

C9orf68 9 4629109 CAGA C 0,64,0,0 FL136L tttctg/ttg

GLDC 9 6644630 T A 9,0,0,11 K106N aaA/aaT

IZUMO3 9 24544197 A G 127,2,64,0 NA NA

IZUMO3 9 24545911 A T 14,0,0,7 L12M Ttg/Atg

TAF1L 9 32635573 C T 0,10,0,43 R2Q cGa/cAa

C9orf128 9 35825873 TATCC T 0,0,0,85 NA NA

C9orf128 9 35825878 A G 19,0,63,0 L94S tTg/tCg

DCAF10 9 37819330 TG T 0,0,0,111 NA NA

C9orf41 9 77598693 T G 0,0,31,15 K407T aAg/aCg

TLE4 9 82321780 G C 0,24,27,0 S276T aGt/aCt

S1PR3 9 91617035 G A 15,0,27,0 R307Q cGg/cAg

IKBKAP 9 111679935 C A 21,8,0,0 L252F ttG/ttT

PTPN3 9 112151649 G A 18,0,34,0 P174L cCt/cTt

TNC 9 117788852 G A 34,1,22,0 R1461C Cgc/Tgc

NDUFA8 9 124906543 G A 35,0,11,0 R166C Cgc/Tgc

C9orf114 9 131588307 C A 16,29,0,0 M210I atG/atT

NUP214 9 134001047 C G 0,9,19,0 R19G Cgt/Ggt

NOTCH1 9 139390885 C A 6,16,0,0 G2436* Gga/Tga

COBRA1 9 140150405 T C 0,13,0,29 F50S tTc/tCc

C10orf108 10 696868 AC A 96,1,2,0 NA NA

FRMD4A 10 13702440 G C 1,42,83,0 R577G Cga/Gga

NEBL 10 21102942 T G 0,0,20,31 K758Q Aaa/Caa

SPAG6 10 22634840 C T 0,22,0,9 R72C Cgc/Tgc

MTPAP 10 30653977 G A 10,0,19,0 R69* Cga/Tga

LYZL2 10 30918549 G C 0,7,12,0 A29G gCg/gGg

CREM 10 35484138 C A 23,16,0,1 D7E gaC/gaA

C10orf71 10 50532227 A G 40,0,21,0 N546S aAt/aGt

ADO 10 64565293 G T 0,0,2,9 Q158H caG/caT

DDX50 10 70706238 G A 27,1,14,0 R689Q cGg/cAg

KCNK18 10 118969425 T G 0,0,46,51 V257G gTg/gGg

TACC2 10 123842479 C T 0,33,0,27 P145L cCc/cTc

TACC2 10 123844131 G A 30,0,5,0 G696R Gga/Aga

CLRN3 10 129676497 AATG A 31,0,0,0 II198I atcatt/att

MKI67 10 129905289 C T 0,52,0,47 M1245I atG/atA

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MKI67 10 129914017 T G 1,0,41,41 K219Q Aag/Cag

IRF7 11 613311 A G 20,2,26,0 W272R Tgg/Cgg

BRSK2 11 1481780 G C 0,8,11,0 E680Q Gag/Cag

OR52K1 11 4510149 A G 42,1,30,0 T7A Acc/Gcc

SMPD1 11 6413157 C T 0,31,0,16 H15Y Cac/Tac

HPX 11 6462138 G T 0,0,80,27 S19Y tCt/tAt

RRP8 11 6621798 A G 23,0,33,0 V390A gTg/gCg

OTOG 11 17655346 G A 33,0,22,0 E1416K Gag/Aag

GAS2 11 22770767 C A 39,96,0,0 S192Y tCt/tAt

LGR4 11 27395523 G C 0,32,76,2 L394V Cta/Gta

AMBRA1 11 46564281 C T 0,21,0,23 R339H cGc/cAc

OR5D18 11 55587707 TC T 0,0,0,139 NA NA

OR8J1 11 56128476 T C 0,62,0,28 Y252H Tat/Cat

SERPING1 11 57367677 C T 0,58,0,25 P126L cCt/cTt

SLC22A8 11 62762068 C T 0,40,0,15 A265T Gct/Act

SLC22A25 11 62996878 G T 0,0,80,31 L83M Ctg/Atg

BBS1 11 66297398 G A 18,1,15,0 R354Q cGa/cAa

ADRBK1 11 67053984 A C 10,6,0,0 S406R Agt/Cgt

LRTOMT 11 71819070 C T 0,21,0,13 P114S Ccc/Tcc

ATG16L2 11 72536390 A G 17,0,17,0 N178S aAc/aGc

SERPINH1 11 75283010 A G 36,1,28,0 K163R aAg/aGg

BIRC3 11 102201859 T G 0,0,11,16 L404R cTa/cGa

MMP7 11 102398335 A T 27,0,0,30 M135K aTg/aAg

EXPH5 11 108384825 C T 0,1,1,118 G282E gGa/gAa

DLAT 11 111931774 A G 11,0,29,0 T335A Acg/Gcg

DRD2 11 113295323 G T 0,0,27,17 N17K aaC/aaA

RNF214 11 117110560 A G 12,0,18,0 D221G gAt/gGt

MLL 11 118360573 A T 22,0,0,25 T1478S Acc/Tcc

OR10G9 11 123894501 C A 20,26,0,0 P261Q cCa/cAa

TIRAP 11 126162908 C A 7,19,0,0 P202T Cct/Act

IQSEC3 12 283937 T C 0,13,0,30 I1096T aTt/aCt

C1RL 12 7249430 C T 0,18,0,8 A341T Gcc/Acc

C3AR1 12 8211666 C G 0,11,32,0 Q372H caG/caC

CLEC12A 12 10131960 G GA 0,0,35,0 NA NA

PIK3C2G 12 18435085 T C 0,29,0,45 F24L Ttt/Ctt

CAPZA3 12 18891824 G A 11,0,18,0 D208N Gac/Aac

PLEKHA5 12 19498783 A G 19,0,7,0 I545M atA/atG

SLCO1B3 12 21069068 A G 7,0,17,0 M666V Atg/Gtg

IFLTD1 12 25699453 C T 0,8,0,8 E116K Gaa/Aaa

CNTN1 12 41302293 C T 0,17,0,28 A20V gCa/gTa

CNTN1 12 41330600 G A 10,0,13,1 E324K Gaa/Aaa

RACGAP1 12 50386391 C T 1,71,0,40 G199S Ggt/Agt

TFCP2 12 51501107 T C 0,38,0,53 Q149R cAa/cGa

KRT3 12 53189427 C G 1,45,21,0 A134P Gct/Cct

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ESPL1 12 53664165 T C 0,72,0,35 Y383H Tat/Cat

SUOX 12 56397514 T C 0,46,0,32 F114S tTt/tCt

SUOX 12 56397944 G A 75,0,92,0 D92N Gat/Aat

LRIG3 12 59282609 C T 0,47,0,50 M205I atG/atA

HELB 12 66698770 G C 0,13,17,0 K149N aaG/aaC

PPP1R12A 12 80239112 CT C 0,111,0,0 NA NA

OTOGL 12 80604642 C T 0,17,0,7 S23L tCg/tTg

PPFIA2 12 81769676 C T 0,7,0,13 E245K Gaa/Aaa

C12orf26 12 82850538 G A 18,0,15,0 C504Y tGt/tAt

LRRIQ1 12 85492697 A G 46,1,38,1 N1020S aAc/aGc

LRRIQ1 12 85638602 C A 19,46,0,0 D1684E gaC/gaA

NR2C1 12 95416072 A G 37,0,40,0 V582A gTt/gCt

ANKS1B 12 100377883 T A 29,0,0,18 S45C Agc/Tgc

C12orf48 12 102572491 T G 0,0,6,13 L295* tTa/tGa

RFX4 12 107090187 GT G 0,0,56,0 NA NA

TRAFD1 12 112587570 C G 1,61,64,0 R392G Cgc/Ggc

MED13L 12 116445358 A G 21,0,30,0 L699S tTg/tCg

MSI1 12 120800940 T C 0,30,0,75 NA NA

CABP1 12 121093631 TGC T 0,0,1,65 NA NA

GTF2H3 12 124139489 G C 0,9,1,0 D119H Gac/Cac

TMEM132D 12 130184575 TC T 0,0,0,42 NA NA

P2RX2 12 133198065 G A 18,0,27,0 G242E gGg/gAg

ZMYM5 13 20409737 C T 0,21,0,14 M367I atG/atA

GJB6 13 20797064 T C 0,9,0,4 T186A Aca/Gca

SACS 13 23905467 C T 0,31,0,28 G3433E gGg/gAg

SMAD9 13 37446960 G A 16,0,14,0 P169S Cca/Tca

POSTN 13 38144803 G A 21,0,17,0 P671L cCa/cTa

FREM2 13 39264812 A T 15,0,0,11 T1111S Act/Tct

ATP7B 13 52536025 C T 0,15,0,11 A521T Gcc/Acc

NEK3 13 52710309 T G 0,1,28,18 T350P Aca/Cca

PCDH9 13 67800719 A T 59,0,0,35 F618L ttT/ttA

EDNRB 13 78492532 G T 0,0,13,15 N149K aaC/aaA

ERCC5 13 103459750 T A 19,0,0,15 L16M Ttg/Atg

COL4A1 13 110864010 C T 0,17,0,18 G151D gGc/gAc

ADPRHL1 13 114079408 CT C 0,55,4,0 NA NA

SUPT16H 14 21834637 T A 33,0,0,12 Q336L cAg/cTg

ABHD4 14 23072577 G A 7,0,5,0 R132Q cGg/cAg

MDGA2 14 47504272 G C 0,20,21,1 S289R agC/agG

C14orf183 14 50550631 G A 8,0,7,0 P238L cCc/cTc

SOS2 14 50605431 A C 102,37,1,0 L920V Tta/Gta

NIN 14 51273478 T C 0,35,0,0 N43S aAt/aGt

C14orf148 14 77873073 G A 18,0,49,0 P226S Cct/Tct

GTF2A1 14 81651931 C T 0,129,0,156 E284K Gag/Aag

SETD3 14 99865086 T G 0,0,25,64 Q572P cAa/cCa

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CKB 14 103988806 C A 38,0,0,0 A9S Gca/Tca

GABRG3 15 27773109 C T 0,41,0,29 P365S Cct/Tct

TJP1 15 30112735 T A 16,0,0,28 S12C Agt/Tgt

TRPM1 15 31341645 A T 6,0,0,8 L480Q cTg/cAg

BUB1B 15 40500900 C T 0,22,0,30 S574L tCg/tTg

SPTBN5 15 42143332 G A 63,0,23,0 A3587V gCc/gTc

SPTBN5 15 42168746 C G 0,19,12,0 Q1317H caG/caC

SPTBN5 15 42171536 C T 0,8,0,17 C1035Y tGc/tAc

TGM7 15 43571389 C T 0,11,1,7 E589K Gag/Aag

PDIA3 15 44048957 G T 0,0,19,43 R119S agG/agT

SPG11 15 44955780 C G 0,11,7,0 M22I atG/atC

SHF 15 45470504 G C 0,12,27,0 L102V Cta/Gta

SECISBP2L 15 49304003 A C 32,54,0,0 L552V Ttg/Gtg

UNC13C 15 54307143 C G 0,48,31,0 N681K aaC/aaG

UNC13C 15 54914575 A T 22,0,0,8 T2051S Act/Tct

ZWILCH 15 66819637 G A 39,0,99,0 D163N Gat/Aat

SH2D7 15 78384999 G A 15,0,16,1 E25K Gag/Aag

CHRNA5 15 78882852 CT C 0,115,0,0 NA NA

AC022748.1 15 79045564 G A 28,0,24,0 E81K Gag/Aag

UNC45A 15 91485808 C T 0,23,0,14 R262* Cga/Tga

DECR2 16 461507 G T 0,0,22,60 G258W Ggg/Tgg

CACNA1H 16 1257309 A T 32,1,0,24 Y981F tAc/tTc

UNKL 16 1416241 T C 0,7,0,15 *183W tgA/tgG

UNKL 16 1445785 G A 21,2,16,0 A397V gCg/gTg

TRAF7 16 2223235 C T 0,48,0,17 R283C Cgc/Tgc

SRRM2 16 2812325 C T 0,46,0,17 P564L cCc/cTc

IL32 16 3117390 G A 7,1,17,0 D10N Gac/Aac

ADCY9 16 4163828 A C 41,15,0,0 L539* tTa/tGa

ERCC4 16 14029408 C T 0,64,0,41 S529L tCg/tTg

IQCK 16 19746709 T G 0,0,41,59 F137L ttT/ttG

ANKS4B 16 21261923 A T 7,0,0,13 T346S Acg/Tcg

OTOA 16 21728322 G T 0,1,17,17 G204V gGa/gTa

CYLD 16 50825468 G A 11,0,1,0 NA NA

TOX3 16 52553371 C T 0,1,0,16 G8R Gga/Aga

CDH8 16 61761081 T G 1,0,100,0 K485Q Aaa/Caa

ZC3H18 16 88675410 A G 52,0,18,0 E269G gAg/gGg

CTU2 16 88781603 C G 0,0,35,0 Q411E Cag/Gag

AC009113.2 16 89235032 G A 76,1,0,0 W116* tGg/tAg

SPATA22 17 3352131 CA C 0,26,0,0 NA NA

SMTNL2 17 4500584 CAGAAGAACTTCG C 0,71,0,0 QKNFE265Q cagaagaacttcgag/cag

DERL2 17 5383404 C G 0,0,38,0 G195A gGa/gCa

XAF1 17 6674005 T A 28,0,0,28 V165D gTt/gAt

ZBTB4 17 7366511 G C 0,44,0,0 A597G gCt/gGt

DNAH2 17 7727236 C T 0,17,0,13 T3766I aCc/aTc

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ALOX15B 17 7951863 G C 0,44,0,1 E597Q Gag/Cag

DHRS7C 17 9680518 C T 0,4,0,31 R189H cGt/cAt

SREBF1 17 17720648 G A 14,0,8,0 R129W Cgg/Tgg

SMCR7 17 18167263 G A 11,1,17,0 D184N Gac/Aac

TBC1D28 17 18539836 G T 0,0,6,18 S191Y tCc/tAc

AKAP10 17 19835179 G C 0,21,10,0 P527R cCt/cGt

CRLF3 17 29119591 CTT C 0,134,0,0 NA NA

MYO19 17 34881120 T C 0,60,0,60 K118R aAg/aGg

GPR179 17 36485071 C G 0,62,51,0 E1461Q Gaa/Caa

CCR7 17 38711974 C G 0,28,13,0 V53L Gtg/Ctg

NBR1 17 41327890 A G 43,0,28,0 N25S aAt/aGt

FAM171A2 17 42431578 G C 0,10,6,0 H668Q caC/caG

TTLL6 17 46882163 C CTGCT 0,121,1,2 NA NA

B4GALNT2 17 47247085 G A 14,1,19,0 A480T Gca/Aca

NXPH3 17 47656230 C G 0,9,12,0 I109M atC/atG

ANKRD40 17 48777220 G GTCA 0,0,65,0 D106VN gac/gTGAac

AC007431.1 17 55822569 AT A 20,0,0,0 NA NA

VEZF1 17 56060231 A G 77,0,65,0 V186A gTg/gCg

TANC2 17 61488873 TGC T 0,0,0,42 NA NA

ABCA6 17 67121109 A G 0,0,21,1 M396T aTg/aCg

SDK2 17 71334947 A G 14,0,10,0 Y1257H Tac/Cac

ACOX1 17 73945843 GT G 0,0,27,0 NA NA

DNAH17 17 76420162 A G 13,0,14,0 V4400A gTc/gCc

DNAH17 17 76440783 T C 0,31,0,48 K3797E Aag/Gag

DNAH17 17 76565492 C T 0,15,0,16 D388N Gac/Aac

SLC26A11 17 78223024 C T 0,7,0,14 L532F Ctc/Ttc

NPTX1 17 78444762 G T 0,0,8,9 R146S Cgc/Agc

L3MBTL4 18 6171874 G A 7,0,5,0 P163L cCg/cTg

TUBB6 18 12326054 CCA C 0,31,0,0 NA NA

DSG3 18 29052309 G A 11,0,0,0 G654S Ggt/Agt

POLI 18 51804172 A T 14,0,0,7 Q169L cAa/cTa

RAX 18 56939682 C G 0,20,18,0 E152Q Gag/Cag

GALR1 18 74980775 C T 0,1,0,58 R323C Cgc/Tgc

CTDP1 18 77488945 A C 1,17,0,0 E819A gAg/gCg

AC006273.1 19 813267 C T 0,5,0,6 R487H cGc/cAc

CHAF1A 19 4429530 G A 17,1,35,0 R567Q cGg/cAg

ZNF266 19 9524861 T C 1,23,0,12 K247R aAa/aGa

ZNF426 19 9639298 GT G 0,0,59,0 NA NA

KRI1 19 10668876 C T 0,70,0,59 E414K Gag/Aag

YIPF2 19 11036364 T C 0,24,0,61 Y122C tAt/tGt

AC024575.1 19 11470274 CACA C 0,79,1,0 HT45P cacacc/ccc

ZNF844 19 12187829 A C 55,21,0,0 T632P Aca/Cca

CACNA1A 19 13470490 T A 13,0,0,14 N303I aAc/aTc

DNAJB1 19 14626865 G A 16,0,37,1 L204F Ctc/Ttc

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MYO9B 19 17270248 C T 1,27,0,11 T458M aCg/aTg

SLC27A1 19 17611380 C A 26,15,0,0 S470R agC/agA

UNC13A 19 17716900 C A 11,8,1,0 R1665L cGc/cTc

TDRD12 19 33233788 G A 60,0,46,0 R141Q cGa/cAa

KIRREL2 19 36351915 T G 0,1,19,30 W295G Tgg/Ggg

ZNF585A 19 37642602 C G 0,43,17,0 L370F ttG/ttC

WDR87 19 38378810 T C 1,61,0,122 E1795G gAg/gGg

AC008537.4 19 41442351 C A 31,51,0,0 T130N aCc/aAc

AC006486.1 19 42747336 C G 0,4,16,0 Q112E Caa/Gaa

MEGF8 19 42857202 G A 9,2,15,0 R1091H cGc/cAc

LIPE 19 42907141 G C 0,24,41,0 P862R cCc/cGc

RSPH6A 19 46307590 C A 22,1,0,0 D525Y Gac/Tac

PRKD2 19 47193937 C T 0,0,0,14 V577M Gtg/Atg

GLTSCR2 19 48259952 C T 0,31,0,22 R246C Cgc/Tgc

POLD1 19 50910318 CGGCT C 1,37,0,0 NA NA

SIGLEC6 19 52023401 T C 0,7,0,13 K381E Aag/Gag

ZNF841 19 52570653 T C 1,53,0,132 N161S aAc/aGc

ZNF880 19 52888104 C A 16,45,0,0 T424N aCt/aAt

ZNF415 19 53612445 A G 31,0,20,0 S272P Tca/Cca

ZNF471 19 57036667 A G 14,0,7,0 T411A Acc/Gcc

ZNF549 19 58049285 G A 46,0,104,0 V292M Gtg/Atg

ZNF416 19 58084350 T C 0,29,0,45 S308G Agc/Ggc

ZIK1 19 58101495 GT G 0,0,93,0 NA NA

ZNF814 19 58385103 T A 106,1,0,122 E552V gAg/gTg

ZNF446 19 58991256 C A 38,26,0,0 F121L ttC/ttA

DEFB132 20 239722 TG T 0,0,1,27 NA NA

CDC25B 20 3777312 G A 11,0,7,0 R45Q cGg/cAg

KIF16B 20 16360271 C A 67,106,0,3 R18S agG/agT

KIF16B 20 16362352 A C 10,9,0,0 L609V Tta/Gta

ABHD12 20 25320300 C A 63,57,0,0 G5V gGg/gTg

MYH7B 20 33575473 G C 0,11,12,0 E463Q Gag/Cag

CHD6 20 40045932 C G 0,12,13,0 G2062A gGa/gCa

ZMYND8 20 45848924 A C 13,23,0,0 S1005A Tcc/Gcc

TSHZ2 20 51871840 G A 12,0,16,0 G141R Ggg/Agg

ZNF217 20 52198651 T A 18,0,0,12 T239S Acc/Tcc

C20orf108 20 54940257 G A 22,0,32,0 V101M Gtg/Atg

C20orf85 20 56735794 GTGCCTAGAGCTCGACGA G 0,0,15,0 NA NA

GNAS 20 57429554 GA G 0,0,41,0 NA NA

ARFGAP1 20 61916271 G C 0,36,23,0 E144D gaG/gaC

RP4-697K14.7 20 62194245 C T 0,12,0,10 R1408Q cGg/cAg

NRIP1 21 16338886 G C 0,28,70,1 P543R cCc/cGc

APP 21 27394201 T TGGC 0,25,3,166 A217AP gcc/gcGCCc

USP16 21 30422411 A T 23,0,0,15 NA NA

BACH1 21 30698501 A T 15,0,0,25 E119V gAg/gTg

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CLDN8 21 31588219 C T 1,58,0,116 A9T Gct/Act

KRTAP20-1 21 31988813 G T 0,0,22,11 G14C Ggt/Tgt

TIAM1 21 32493054 C A 19,38,0,0 E1410* Gag/Tag

SETD4 21 37418082 T C 0,21,0,35 D151G gAc/gGc

KRTAP12-2 21 46086706 G C 0,17,28,0 S33C tCc/tGc

CLTCL1 22 19220985 C T 0,17,0,7 G443E gGg/gAg

ARVCF 22 19960715 C T 0,25,0,16 D720N Gac/Aac

TRMT2A 22 20102135 C T 0,17,0,46 G399R Ggg/Agg

RANBP1 22 20114107 G T 0,0,32,14 G151C Ggc/Tgc

SCARF2 22 20785696 C A 6,7,0,0 A155S Gcg/Tcg

INPP5J 22 31529452 G A 18,0,14,0 D163N Gat/Aat

PRR14L 22 32110550 G A 93,2,59,0 S1092F tCc/tTc

APOL3 22 36537441 A T 27,1,1,17 I139N aTc/aAc

CSF2RB 22 37325765 G A 22,0,19,1 V132I Gta/Ata

CSF2RB 22 37333993 G T 1,0,22,20 A662S Gca/Tca

CACNA1I 22 40042680 A C 8,15,0,2 Y419S tAc/tCc

CACNA1I 22 40061894 G T 0,0,22,31 K1294N aaG/aaT

TCF20 22 42610618 C G 0,18,16,0 G232R Ggc/Cgc

C22orf34 22 50014247 C T 0,40,0,45 W144* tGg/tAg

TUBGCP6 22 50656430 G A 18,0,12,0 P1762L cCg/cTg

SBF1 22 50903745 G A 14,0,10,0 R368C Cgc/Tgc

DMD X 32398732 C T 0,2,0,82 M1457I atG/atA

SRPX X 38009076 C T 0,0,0,17 R369H cGc/cAc

BCOR X 39933639 CGCCTT C 0,23,0,0 NA NA

MED14 X 40569353 T C 1,50,0,1 T351A Aca/Gca

EFHC2 X 44037689 G T 0,0,19,12 H38N Cac/Aac

ZNF157 X 47272390 G T 0,0,2,32 E306D gaG/gaT

CLCN5 X 49834614 G T 0,0,0,47 G12W Ggg/Tgg

CCNB3 X 50052631 C G 1,0,46,0 P488A Cct/Gct

SMC1A X 53438775 T C 0,41,0,17 N163S aAt/aGt

ATP7A X 77270162 A C 37,37,0,0 K726Q Aaa/Caa

SATL1 X 84362634 G C 0,22,30,0 S260R agC/agG

DACH2 X 85769382 A C 38,46,0,0 I197L Atc/Ctc

ARMCX2 X 100912085 C G 0,8,15,0 A164P Gca/Cca

CXorf41 X 106456179 G A 19,0,0,0 S25N aGt/aAt

AL109749.1 X 131205212 G T 0,0,37,29 S223I aGt/aTt

ZIC3 X 136648984 ACGCCGCCGC A 30,0,0,0 HAAA45H cacgccgccgcc/cac

MCF2 X 138684608 G C 1,8,15,0 S201* tCa/tGa

MAGEC1 X 140995928 A G 1,0,84,0 D913G gAc/gGc

AFF2 X 147743886 A T 38,0,1,38 N209I aAc/aTc

PLXNB3 X 153033328 T A 6,0,0,14 V349E gTg/gAg

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SNPEFF_EFFECT SNPEFF_EXON_ID SNPEFF_FUNCTIONAL_CLASS SNPEFF_GENE_BIOTYPE SNPEFF_IMPACT SNPEFF_TRANSCRIPT_ID VariantType

CODON_INSERTION exon_1_1647785_1647917 NONE protein_coding MODERATE ENST00000357760 INSERTION

NON_SYNONYMOUS_CODING exon_1_1918376_1918474 MISSENSE retained_intron MODERATE ENST00000270720 SNP

NON_SYNONYMOUS_CODING exon_1_3417741_3417872 MISSENSE protein_coding MODERATE ENST00000294599 SNP

CODON_CHANGE_PLUS_CODON_DELETION exon_1_6252990_6253114 NONE processed_transcript MODERATE ENST00000234875 DELETION

NON_SYNONYMOUS_CODING exon_1_11182036_11182183 MISSENSE protein_coding MODERATE ENST00000361445 SNP

NON_SYNONYMOUS_CODING exon_1_23686467_23688532 MISSENSE protein_coding MODERATE ENST00000374609 SNP

NON_SYNONYMOUS_CODING exon_1_26887217_26887342 MISSENSE nonsense_mediated_decay MODERATE ENST00000374162 SNP

NON_SYNONYMOUS_CODING exon_1_33235481_33238042 MISSENSE protein_coding MODERATE ENST00000373480 SNP

NON_SYNONYMOUS_CODING exon_1_33235481_33238042 MISSENSE protein_coding MODERATE ENST00000373480 SNP

NON_SYNONYMOUS_CODING exon_1_35452581_35454536 MISSENSE nonsense_mediated_decay MODERATE ENST00000357182 SNP

NON_SYNONYMOUS_CODING exon_1_39322551_39322754 MISSENSE protein_coding MODERATE ENST00000373001 SNP

STOP_GAINED exon_1_43692654_43692797 NONSENSE protein_coding HIGH ENST00000372492 SNP

NON_SYNONYMOUS_CODING exon_1_44056643_44057224 MISSENSE processed_transcript MODERATE ENST00000359947 SNP

NON_SYNONYMOUS_CODING exon_1_44482719_44482997 MISSENSE protein_coding MODERATE ENST00000357730 SNP

NON_SYNONYMOUS_CODING exon_1_60358980_60359501 MISSENSE protein_coding MODERATE ENST00000371204 SNP

NON_SYNONYMOUS_CODING exon_1_64608088_64608333 MISSENSE protein_coding MODERATE ENST00000371079 SNP

NON_SYNONYMOUS_CODING exon_1_65878607_65878970 MISSENSE processed_transcript MODERATE ENST00000263441 SNP

NON_SYNONYMOUS_CODING exon_1_68904625_68904764 MISSENSE protein_coding MODERATE ENST00000262340 SNP

NON_SYNONYMOUS_CODING exon_1_84853963_84854076 MISSENSE protein_coding MODERATE ENST00000454967 SNP

NON_SYNONYMOUS_CODING exon_1_86814421_86814561 MISSENSE protein_coding MODERATE ENST00000394731 SNP

NON_SYNONYMOUS_CODING exon_1_101705544_101706505 MISSENSE protein_coding MODERATE ENST00000424264 SNP

STOP_GAINED exon_1_108211585_108212094 NONSENSE protein_coding HIGH ENST00000371846 SNP

NON_SYNONYMOUS_CODING exon_1_110085044_110089882 MISSENSE nonsense_mediated_decay MODERATE ENST00000527748 SNP

SPLICE_SITE_DONOR NA NONE protein_coding HIGH ENST00000369489 DELETION

NON_SYNONYMOUS_CODING exon_1_118584426_118584665 MISSENSE processed_transcript MODERATE ENST00000336338 SNP

NON_SYNONYMOUS_CODING exon_1_120506197_120506430 MISSENSE protein_coding MODERATE ENST00000539617 SNP

NON_SYNONYMOUS_CODING exon_1_150727477_150727626 MISSENSE protein_coding MODERATE ENST00000368985 SNP

NON_SYNONYMOUS_CODING exon_1_153233403_153234598 MISSENSE protein_coding MODERATE ENST00000368742 SNP

NON_SYNONYMOUS_CODING exon_1_153746830_153748640 MISSENSE protein_coding MODERATE ENST00000271857 SNP

NON_SYNONYMOUS_CODING exon_1_154917198_154917593 MISSENSE protein_coding MODERATE ENST00000543593 SNP

NON_SYNONYMOUS_CODING exon_1_160769543_160769872 MISSENSE retained_intron MODERATE ENST00000368037 SNP

NON_SYNONYMOUS_CODING exon_1_161173227_161173333 MISSENSE processed_transcript MODERATE ENST00000367993 SNP

NON_SYNONYMOUS_CODING exon_1_167024967_167025086 MISSENSE processed_transcript MODERATE ENST00000367868 SNP

NON_SYNONYMOUS_CODING exon_1_171236682_171236870 MISSENSE protein_coding MODERATE ENST00000354841 SNP

FRAME_SHIFT exon_1_172557900_172559066 NONE protein_coding HIGH ENST00000263688 DELETION

NON_SYNONYMOUS_CODING exon_1_176563660_176564731 MISSENSE protein_coding MODERATE ENST00000367661 SNP

NON_SYNONYMOUS_CODING exon_1_181695201_181695298 MISSENSE protein_coding MODERATE ENST00000367567 SNP

NON_SYNONYMOUS_CODING exon_1_201175211_201182749 MISSENSE nonsense_mediated_decay MODERATE ENST00000335211 SNP

SPLICE_SITE_ACCEPTOR NA NONE protein_coding HIGH ENST00000236918 DELETION

NON_SYNONYMOUS_CODING exon_1_208315674_208315808 MISSENSE protein_coding MODERATE ENST00000367033 SNP

NON_SYNONYMOUS_CODING exon_1_210761242_210761443 MISSENSE protein_coding MODERATE ENST00000541565 SNP

NON_SYNONYMOUS_CODING exon_1_216061768_216062396 MISSENSE protein_coding MODERATE ENST00000307340 SNP

NON_SYNONYMOUS_CODING exon_1_216221876_216221989 MISSENSE protein_coding MODERATE ENST00000307340 SNP

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NON_SYNONYMOUS_CODING exon_1_220151888_220152061 MISSENSE protein_coding MODERATE ENST00000366923 SNP

NON_SYNONYMOUS_CODING exon_1_222903369_222903519 MISSENSE protein_coding MODERATE ENST00000539697 SNP

NON_SYNONYMOUS_CODING exon_1_225328470_225328723 MISSENSE protein_coding MODERATE ENST00000445597 SNP

NON_SYNONYMOUS_CODING exon_1_240070733_240078750 MISSENSE processed_transcript MODERATE ENST00000255380 SNP

NON_SYNONYMOUS_CODING exon_1_244780831_244780988 MISSENSE processed_transcript MODERATE ENST00000366531 SNP

NON_SYNONYMOUS_CODING exon_1_245848707_245852109 MISSENSE protein_coding MODERATE ENST00000407071 SNP

NON_SYNONYMOUS_CODING exon_2_1544366_1547483 MISSENSE processed_transcript MODERATE ENST00000422464 SNP

STOP_GAINED exon_2_15326866_15327004 NONSENSE protein_coding HIGH ENST00000441750 SNP

STOP_GAINED exon_2_21360337_21366144 NONSENSE protein_coding HIGH ENST00000405799 SNP

NON_SYNONYMOUS_CODING exon_2_21360337_21366144 MISSENSE protein_coding MODERATE ENST00000405799 SNP

NON_SYNONYMOUS_CODING exon_2_26203242_26204352 MISSENSE protein_coding MODERATE ENST00000542511 SNP

NON_SYNONYMOUS_CODING exon_2_27277498_27277675 MISSENSE protein_coding MODERATE ENST00000323064 SNP

NON_SYNONYMOUS_CODING exon_2_32770710_32770927 MISSENSE protein_coding MODERATE ENST00000421745 SNP

NON_SYNONYMOUS_CODING exon_2_36805740_36806008 MISSENSE nonsense_mediated_decay MODERATE ENST00000305852 SNP

NON_SYNONYMOUS_CODING exon_2_38526398_38526469 MISSENSE protein_coding MODERATE ENST00000402054 SNP

FRAME_SHIFT exon_2_50733633_50733755 NONE protein_coding HIGH ENST00000401669 INSERTION

NON_SYNONYMOUS_CODING exon_2_74689123_74690139 MISSENSE protein_coding MODERATE ENST00000448666 SNP

CODON_DELETION exon_2_74708944_74710123 NONE nonsense_mediated_decay MODERATE ENST00000290418 DELETION

FRAME_SHIFT exon_2_97426639_97428138 NONE protein_coding HIGH ENST00000377075 DELETION

NON_SYNONYMOUS_CODING exon_2_99226219_99226502 MISSENSE protein_coding MODERATE ENST00000357765 SNP

NON_SYNONYMOUS_CODING exon_2_100903376_100903525 MISSENSE protein_coding MODERATE ENST00000409647 SNP

NON_SYNONYMOUS_CODING exon_2_109388157_109388327 MISSENSE protein_coding MODERATE ENST00000409491 SNP

NON_SYNONYMOUS_CODING exon_2_113943538_113943832 MISSENSE processed_transcript MODERATE ENST00000441564 SNP

NON_SYNONYMOUS_CODING exon_2_120900579_120900707 MISSENSE protein_coding MODERATE ENST00000263713 SNP

NON_SYNONYMOUS_CODING exon_2_136467629_136467801 MISSENSE processed_transcript MODERATE ENST00000329971 SNP

NON_SYNONYMOUS_CODING exon_2_159077107_159077225 MISSENSE protein_coding MODERATE ENST00000283233 SNP

NON_SYNONYMOUS_CODING exon_2_160086089_160089166 MISSENSE protein_coding MODERATE ENST00000454300 SNP

NON_SYNONYMOUS_CODING exon_2_160193973_160194283 MISSENSE protein_coding MODERATE ENST00000426648 SNP

FRAME_SHIFT exon_2_160993945_160994362 NONE protein_coding HIGH ENST00000283249 DELETION

NON_SYNONYMOUS_CODING exon_2_163031377_163031476 MISSENSE nonsense_mediated_decay MODERATE ENST00000443424 SNP

NON_SYNONYMOUS_CODING exon_2_163031377_163031476 MISSENSE nonsense_mediated_decay MODERATE ENST00000443424 SNP

FRAME_SHIFT exon_2_168099079_168108457 NONE protein_coding HIGH ENST00000295237 INSERTION

FRAME_SHIFT exon_2_176988662_176989853 NONE protein_coding HIGH ENST00000249499 DELETION

NON_SYNONYMOUS_CODING exon_2_177053307_177054181 MISSENSE protein_coding MODERATE ENST00000331462 SNP

NON_SYNONYMOUS_CODING exon_2_177053307_177054181 MISSENSE protein_coding MODERATE ENST00000331462 SNP

NON_SYNONYMOUS_CODING exon_2_179412134_179414200 MISSENSE protein_coding MODERATE ENST00000356127 SNP

NON_SYNONYMOUS_CODING exon_2_179414713_179415000 MISSENSE protein_coding MODERATE ENST00000356127 SNP

NON_SYNONYMOUS_CODING exon_2_179448334_179448633 MISSENSE protein_coding MODERATE ENST00000356127 SNP

STOP_GAINED exon_2_179610047_179616766 NONSENSE protein_coding HIGH ENST00000360870 SNP

NON_SYNONYMOUS_CODING exon_2_179640083_179641776 MISSENSE protein_coding MODERATE ENST00000342175 SNP

NON_SYNONYMOUS_CODING exon_2_186664424_186673860 MISSENSE protein_coding MODERATE ENST00000424728 SNP

NON_SYNONYMOUS_CODING exon_2_201342359_201343253 MISSENSE protein_coding MODERATE ENST00000360760 SNP

FRAME_SHIFT exon_2_204298405_204306136 NONE protein_coding HIGH ENST00000319170 DELETION

NON_SYNONYMOUS_CODING exon_2_218999500_219001976 MISSENSE protein_coding MODERATE ENST00000318507 SNP

Page 14

KMH2

NON_SYNONYMOUS_CODING exon_2_229888705_229890824 MISSENSE processed_transcript MODERATE ENST00000409462 SNP

CODON_CHANGE_PLUS_CODON_DELETION exon_2_232325380_232325577 NONE protein_coding MODERATE ENST00000322723 DELETION

NON_SYNONYMOUS_CODING exon_2_239102916_239102972 MISSENSE protein_coding MODERATE ENST00000254654 SNP

NON_SYNONYMOUS_CODING exon_3_6902802_6903594 MISSENSE nonsense_mediated_decay MODERATE ENST00000357716 SNP

CODON_DELETION exon_3_10979936_10982419 NONE protein_coding MODERATE ENST00000254488 DELETION

NON_SYNONYMOUS_CODING exon_3_12650265_12650422 MISSENSE protein_coding MODERATE ENST00000251849 SNP

NON_SYNONYMOUS_CODING exon_3_14813574_14813708 MISSENSE protein_coding MODERATE ENST00000412910 SNP

NON_SYNONYMOUS_CODING exon_3_16679392_16679592 MISSENSE protein_coding MODERATE ENST00000454457 SNP

NON_SYNONYMOUS_CODING exon_3_23250183_23250366 MISSENSE protein_coding MODERATE ENST00000396703 SNP

NON_SYNONYMOUS_CODING exon_3_39224706_39231016 MISSENSE protein_coding MODERATE ENST00000340369 SNP

NON_SYNONYMOUS_CODING exon_3_44905689_44905835 MISSENSE protein_coding MODERATE ENST00000302392 SNP

NON_SYNONYMOUS_CODING exon_3_47618323_47619418 MISSENSE protein_coding MODERATE ENST00000264723 SNP

NON_SYNONYMOUS_CODING exon_3_57301770_57301820 MISSENSE protein_coding MODERATE ENST00000288266 SNP

NON_SYNONYMOUS_CODING exon_3_58834758_58835135 MISSENSE protein_coding MODERATE ENST00000394474 SNP

NON_SYNONYMOUS_CODING exon_3_71101688_71101777 MISSENSE protein_coding MODERATE ENST00000318789 SNP

NON_SYNONYMOUS_CODING exon_3_129275926_129276066 MISSENSE protein_coding MODERATE ENST00000324093 SNP

FRAME_SHIFT exon_3_135745674_135745940 NONE protein_coding HIGH ENST00000264977 DELETION

NON_SYNONYMOUS_CODING exon_3_137786373_137786542 MISSENSE protein_coding MODERATE ENST00000327532 SNP

STOP_GAINED exon_3_137786373_137786542 NONSENSE protein_coding HIGH ENST00000327532 SNP

NON_SYNONYMOUS_CODING exon_3_138256020_138256189 MISSENSE protein_coding MODERATE ENST00000468900 SNP

NON_SYNONYMOUS_CODING exon_3_142151503_142151735 MISSENSE protein_coding MODERATE ENST00000264951 SNP

NON_SYNONYMOUS_CODING exon_3_157814972_157816073 MISSENSE protein_coding MODERATE ENST00000313019 SNP

NON_SYNONYMOUS_CODING exon_3_159974780_159976423 MISSENSE protein_coding MODERATE ENST00000483465 SNP

NON_SYNONYMOUS_CODING exon_3_169654127_169654237 MISSENSE protein_coding MODERATE ENST00000335556 SNP

NON_SYNONYMOUS_CODING exon_3_176755886_176755960 MISSENSE protein_coding MODERATE ENST00000536758 SNP

NON_SYNONYMOUS_CODING exon_3_180334304_180334405 MISSENSE protein_coding MODERATE ENST00000489868 SNP

NON_SYNONYMOUS_CODING exon_3_195515489_195518372 MISSENSE nonsense_mediated_decay MODERATE ENST00000392409 SNP

NON_SYNONYMOUS_CODING exon_3_195597140_195597275 MISSENSE protein_coding MODERATE ENST00000316664 SNP

NON_SYNONYMOUS_CODING exon_4_843680_843856 MISSENSE retained_intron MODERATE ENST00000511163 SNP

CODON_INSERTION exon_4_2965588_2965849 NONE protein_coding MODERATE ENST00000442472 INSERTION

NON_SYNONYMOUS_CODING exon_4_15004298_15005959 MISSENSE protein_coding MODERATE ENST00000442003 SNP

NON_SYNONYMOUS_CODING exon_4_15687859_15690724 MISSENSE processed_transcript MODERATE ENST00000422728 SNP

NON_SYNONYMOUS_CODING exon_4_30723976_30726218 MISSENSE protein_coding MODERATE ENST00000333135 SNP

NON_SYNONYMOUS_CODING exon_4_40103695_40104838 MISSENSE protein_coding MODERATE ENST00000261435 SNP

NON_SYNONYMOUS_CODING exon_4_74364831_74364963 MISSENSE protein_coding MODERATE ENST00000226355 SNP

NON_SYNONYMOUS_CODING exon_4_77274276_77274434 MISSENSE retained_intron MODERATE ENST00000388914 SNP

NON_SYNONYMOUS_CODING exon_4_77292570_77292689 MISSENSE retained_intron MODERATE ENST00000388914 SNP

NON_SYNONYMOUS_CODING exon_4_87735609_87736302 MISSENSE protein_coding MODERATE ENST00000316707 SNP

CODON_DELETION exon_4_88534937_88538062 NONE protein_coding MODERATE ENST00000282478 DELETION

STOP_GAINED exon_4_96761239_96762625 NONSENSE protein_coding HIGH ENST00000295266 SNP

NON_SYNONYMOUS_CODING exon_4_98105244_98108984 MISSENSE protein_coding MODERATE ENST00000522676 SNP

NON_SYNONYMOUS_CODING exon_4_99982305_99983175 MISSENSE protein_coding MODERATE ENST00000514051 SNP

NON_SYNONYMOUS_CODING exon_4_109088711_109089578 MISSENSE protein_coding MODERATE ENST00000265165 SNP

NON_SYNONYMOUS_CODING exon_4_123179856_123179998 MISSENSE protein_coding MODERATE ENST00000264501 SNP

Page 15

KMH2

NON_SYNONYMOUS_CODING exon_4_123855252_123855893 MISSENSE protein_coding MODERATE ENST00000274008 SNP

NON_SYNONYMOUS_CODING exon_4_126237554_126242741 MISSENSE protein_coding MODERATE ENST00000394329 SNP

NON_SYNONYMOUS_CODING exon_4_126369616_126373965 MISSENSE protein_coding MODERATE ENST00000335110 SNP

NON_SYNONYMOUS_CODING exon_4_144498455_144499005 MISSENSE protein_coding MODERATE ENST00000329798 SNP

FRAME_SHIFT exon_4_147149362_147149674 NONE protein_coding HIGH ENST00000504313 INSERTION

NON_SYNONYMOUS_CODING exon_4_155241531_155242374 MISSENSE protein_coding MODERATE ENST00000357232 SNP

NON_SYNONYMOUS_CODING exon_4_156721029_156721226 MISSENSE protein_coding MODERATE ENST00000505154 SNP

FRAME_SHIFT exon_4_156830039_156830166 NONE processed_transcript HIGH ENST00000506072 DELETION

NON_SYNONYMOUS_CODING exon_4_159051938_159052164 MISSENSE protein_coding MODERATE ENST00000505460 SNP

NON_SYNONYMOUS_CODING exon_4_160131652_160131735 MISSENSE protein_coding MODERATE ENST00000505478 SNP

FRAME_SHIFT exon_4_165961221_165962665 NONE protein_coding HIGH ENST00000341062 DELETION

NON_SYNONYMOUS_CODING exon_4_187557739_187558068 MISSENSE protein_coding MODERATE ENST00000260147 SNP

NON_SYNONYMOUS_CODING exon_5_35876085_35879705 MISSENSE protein_coding MODERATE ENST00000303115 SNP

NON_SYNONYMOUS_CODING exon_5_37703051_37703189 MISSENSE protein_coding MODERATE ENST00000265107 SNP

FRAME_SHIFT exon_5_38960500_38960635 NONE protein_coding HIGH ENST00000296782 INSERTION

FRAME_SHIFT exon_5_41049382_41049538 NONE retained_intron HIGH ENST00000296803 DELETION

NON_SYNONYMOUS_CODING exon_5_42695019_42695191 MISSENSE protein_coding MODERATE ENST00000357703 SNP

FRAME_SHIFT exon_5_61811215_61811328 NONE protein_coding HIGH ENST00000325324 DELETION

CODON_DELETION exon_5_68709858_68710626 NONE processed_transcript MODERATE ENST00000358030 DELETION

NON_SYNONYMOUS_CODING exon_5_73128163_73128284 MISSENSE protein_coding MODERATE ENST00000287898 SNP

NON_SYNONYMOUS_CODING exon_5_73128163_73128284 MISSENSE protein_coding MODERATE ENST00000287898 SNP

NON_SYNONYMOUS_CODING exon_5_89925027_89925356 MISSENSE protein_coding MODERATE ENST00000296619 SNP

NON_SYNONYMOUS_CODING exon_5_101592819_101593014 MISSENSE protein_coding MODERATE ENST00000310954 SNP

NON_SYNONYMOUS_CODING exon_5_110092402_110092459 MISSENSE processed_transcript MODERATE ENST00000509432 SNP

NON_SYNONYMOUS_CODING exon_5_118484434_118486116 MISSENSE processed_transcript MODERATE ENST00000311085 SNP

NON_SYNONYMOUS_CODING exon_5_129519922_129522327 MISSENSE protein_coding MODERATE ENST00000305031 SNP

NON_SYNONYMOUS_CODING exon_5_140165876_140168446 MISSENSE protein_coding MODERATE ENST00000378133 SNP

NON_SYNONYMOUS_CODING exon_5_140603481_140605665 MISSENSE protein_coding MODERATE ENST00000515856 SNP

NON_SYNONYMOUS_CODING exon_5_140864741_140867182 MISSENSE protein_coding MODERATE ENST00000306593 SNP

NON_SYNONYMOUS_CODING exon_5_149323763_149324356 MISSENSE protein_coding MODERATE ENST00000255266 SNP

NON_SYNONYMOUS_CODING exon_5_158500404_158500472 MISSENSE protein_coding MODERATE ENST00000313708 SNP

NON_SYNONYMOUS_CODING exon_5_158500404_158500472 MISSENSE protein_coding MODERATE ENST00000313708 SNP

NON_SYNONYMOUS_CODING exon_5_161128504_161129598 MISSENSE processed_transcript MODERATE ENST00000523217 SNP

NON_SYNONYMOUS_CODING exon_6_24840351_24841003 MISSENSE protein_coding MODERATE ENST00000540914 SNP

NON_SYNONYMOUS_CODING exon_6_29341200_29343068 MISSENSE protein_coding MODERATE ENST00000377143 SNP

NON_SYNONYMOUS_CODING exon_6_31626075_31628549 MISSENSE protein_coding MODERATE ENST00000375911 SNP

NON_SYNONYMOUS_CODING exon_6_31760534_31760672 MISSENSE processed_transcript MODERATE ENST00000375663 SNP

NON_SYNONYMOUS_CODING exon_6_33554447_33554565 MISSENSE protein_coding MODERATE ENST00000374458 SNP

NON_SYNONYMOUS_CODING exon_6_33633612_33633753 MISSENSE protein_coding MODERATE ENST00000374316 SNP

NON_SYNONYMOUS_CODING exon_6_42571326_42571456 MISSENSE protein_coding MODERATE ENST00000372899 SNP

NON_SYNONYMOUS_CODING exon_6_47251674_47252168 MISSENSE protein_coding MODERATE ENST00000296861 SNP

NON_SYNONYMOUS_CODING exon_6_54001513_54002707 MISSENSE protein_coding MODERATE ENST00000503951 SNP

NON_SYNONYMOUS_CODING exon_6_73904175_73905137 MISSENSE protein_coding MODERATE ENST00000414165 SNP

NON_SYNONYMOUS_CODING exon_6_94119372_94120888 MISSENSE protein_coding MODERATE ENST00000369297 SNP

Page 16

KMH2

NON_SYNONYMOUS_CODING exon_6_97512504_97512602 MISSENSE protein_coding MODERATE ENST00000544166 SNP

STOP_GAINED exon_6_107954718_107956673 NONSENSE protein_coding HIGH ENST00000317357 SNP

NON_SYNONYMOUS_CODING exon_6_107954718_107956673 MISSENSE protein_coding MODERATE ENST00000317357 SNP

CODON_DELETION exon_6_109848832_109850276 NONE protein_coding MODERATE ENST00000355283 DELETION

SPLICE_SITE_ACCEPTOR NA NONE protein_coding HIGH ENST00000448084 SNP

NON_SYNONYMOUS_CODING exon_6_112469359_112469538 MISSENSE protein_coding MODERATE ENST00000389463 SNP

STOP_GAINED exon_6_116756750_116759442 NONSENSE protein_coding HIGH ENST00000331677 SNP

NON_SYNONYMOUS_CODING exon_6_119345124_119345978 MISSENSE protein_coding MODERATE ENST00000352896 SNP

NON_SYNONYMOUS_CODING exon_6_129759791_129759907 MISSENSE protein_coding MODERATE ENST00000354729 SNP

NON_SYNONYMOUS_CODING exon_6_131903761_131903855 MISSENSE protein_coding MODERATE ENST00000368087 SNP

NON_SYNONYMOUS_CODING exon_6_132891512_132892163 MISSENSE protein_coding MODERATE ENST00000539228 SNP

NON_SYNONYMOUS_CODING exon_6_142409374_142409936 MISSENSE processed_transcript MODERATE ENST00000258042 SNP

NON_SYNONYMOUS_CODING exon_6_146719905_146720835 MISSENSE retained_intron MODERATE ENST00000282753 SNP

NON_SYNONYMOUS_CODING exon_6_152708207_152708516 MISSENSE protein_coding MODERATE ENST00000265368 SNP

NON_SYNONYMOUS_CODING exon_6_152777021_152777179 MISSENSE protein_coding MODERATE ENST00000495090 SNP

NON_SYNONYMOUS_CODING exon_6_155126503_155126620 MISSENSE protein_coding MODERATE ENST00000367178 SNP

NON_SYNONYMOUS_CODING exon_6_165792683_165792855 MISSENSE protein_coding MODERATE ENST00000392126 SNP

NON_SYNONYMOUS_CODING exon_7_2472198_2474242 MISSENSE protein_coding MODERATE ENST00000258711 SNP

NON_SYNONYMOUS_CODING exon_7_2956924_2957019 MISSENSE protein_coding MODERATE ENST00000396946 SNP

CODON_DELETION exon_7_2978313_2978465 NONE protein_coding MODERATE ENST00000396946 DELETION

NON_SYNONYMOUS_CODING exon_7_5427303_5428967 MISSENSE protein_coding MODERATE ENST00000399537 SNP

NON_SYNONYMOUS_CODING exon_7_11582589_11582744 MISSENSE protein_coding MODERATE ENST00000262042 SNP

NON_SYNONYMOUS_CODING exon_7_12610312_12610611 MISSENSE nonsense_mediated_decay MODERATE ENST00000297029 SNP

NON_SYNONYMOUS_CODING exon_7_21742328_21742420 MISSENSE processed_transcript MODERATE ENST00000328843 SNP

STOP_GAINED exon_7_23871755_23872126 NONSENSE protein_coding HIGH ENST00000354639 SNP

FRAME_SHIFT exon_7_44150512_44150656 NONE protein_coding HIGH ENST00000223357 DELETION

NON_SYNONYMOUS_CODING exon_7_48431518_48431736 MISSENSE nonsense_mediated_decay MODERATE ENST00000435803 SNP

NON_SYNONYMOUS_CODING exon_7_55272949_55275030 MISSENSE protein_coding MODERATE ENST00000395504 SNP

NON_SYNONYMOUS_CODING exon_7_77539562_77539726 MISSENSE protein_coding MODERATE ENST00000275575 SNP

NON_SYNONYMOUS_CODING exon_7_82544002_82546189 MISSENSE protein_coding MODERATE ENST00000333891 SNP

NON_SYNONYMOUS_CODING exon_7_82581172_82586251 MISSENSE protein_coding MODERATE ENST00000431819 SNP

SPLICE_SITE_DONOR NA NONE protein_coding HIGH ENST00000005260 SNP

NON_SYNONYMOUS_CODING exon_7_100551250_100552774 MISSENSE processed_transcript MODERATE ENST00000319509 SNP

SPLICE_SITE_ACCEPTOR NA NONE nonsense_mediated_decay HIGH ENST00000340010 SNP

NON_SYNONYMOUS_CODING exon_7_108213343_108215294 MISSENSE protein_coding MODERATE ENST00000249356 SNP

NON_SYNONYMOUS_CODING exon_7_139313699_139313785 MISSENSE protein_coding MODERATE ENST00000342645 SNP

NON_SYNONYMOUS_CODING exon_7_150730692_150731004 MISSENSE protein_coding MODERATE ENST00000358849 SNP

NON_SYNONYMOUS_CODING exon_7_150817074_150817232 MISSENSE processed_transcript MODERATE ENST00000468796 SNP

NON_SYNONYMOUS_CODING exon_8_1496792_1497849 MISSENSE protein_coding MODERATE ENST00000421627 SNP

NON_SYNONYMOUS_CODING exon_8_2033395_2033522 MISSENSE protein_coding MODERATE ENST00000262113 SNP

FRAME_SHIFT exon_8_10480103_10480730 NONE protein_coding HIGH ENST00000382483 INSERTION

NON_SYNONYMOUS_CODING exon_8_16927197_16927228 MISSENSE protein_coding MODERATE ENST00000318063 SNP

NON_SYNONYMOUS_CODING exon_8_48879925_48880045 MISSENSE protein_coding MODERATE ENST00000429229 SNP

NON_SYNONYMOUS_CODING exon_8_53568568_53570468 MISSENSE protein_coding MODERATE ENST00000025008 SNP

Page 17

KMH2

NON_SYNONYMOUS_CODING exon_8_80942271_80942506 MISSENSE protein_coding MODERATE ENST00000276585 SNP

NON_SYNONYMOUS_CODING exon_8_81899605_81899701 MISSENSE processed_transcript MODERATE ENST00000220597 SNP

NON_SYNONYMOUS_CODING exon_8_86027610_86027819 MISSENSE protein_coding MODERATE ENST00000426019 SNP

CODON_DELETION exon_8_95680177_95680478 NONE protein_coding MODERATE ENST00000517610 DELETION

NON_SYNONYMOUS_CODING exon_8_113246594_113246706 MISSENSE protein_coding MODERATE ENST00000339701 SNP

NON_SYNONYMOUS_CODING exon_8_125082708_125082839 MISSENSE protein_coding MODERATE ENST00000399018 SNP

NON_SYNONYMOUS_CODING exon_8_135612679_135612911 MISSENSE protein_coding MODERATE ENST00000318135 SNP

NON_SYNONYMOUS_CODING exon_8_144732068_144733434 MISSENSE protein_coding MODERATE ENST00000328466 SNP

NON_SYNONYMOUS_CODING exon_8_145007365_145007519 MISSENSE protein_coding MODERATE ENST00000398774 SNP

NON_SYNONYMOUS_CODING exon_8_145732293_145732554 MISSENSE protein_coding MODERATE ENST00000394955 SNP

CODON_CHANGE_PLUS_CODON_DELETION exon_9_4629091_4629168 NONE nonsense_mediated_decay MODERATE ENST00000454239 DELETION

NON_SYNONYMOUS_CODING exon_9_6644614_6644692 MISSENSE protein_coding MODERATE ENST00000321612 SNP

SPLICE_SITE_DONOR NA NONE protein_coding HIGH ENST00000418122 SNP

NON_SYNONYMOUS_CODING exon_9_24545887_24545944 MISSENSE protein_coding MODERATE ENST00000418122 SNP

NON_SYNONYMOUS_CODING exon_9_32629452_32635667 MISSENSE protein_coding MODERATE ENST00000242310 SNP

FRAME_SHIFT exon_9_35825561_35826158 NONE nonsense_mediated_decay HIGH ENST00000377984 DELETION

NON_SYNONYMOUS_CODING exon_9_35825561_35826158 MISSENSE nonsense_mediated_decay MODERATE ENST00000377984 SNP

FRAME_SHIFT exon_9_37819285_37819398 NONE protein_coding HIGH ENST00000242323 DELETION

NON_SYNONYMOUS_CODING exon_9_77595936_77598784 MISSENSE protein_coding MODERATE ENST00000376834 SNP

NON_SYNONYMOUS_CODING exon_9_82321662_82321814 MISSENSE protein_coding MODERATE ENST00000265284 SNP

NON_SYNONYMOUS_CODING exon_9_91615969_91619925 MISSENSE protein_coding MODERATE ENST00000358157 SNP

NON_SYNONYMOUS_CODING exon_9_111679827_111679950 MISSENSE protein_coding MODERATE ENST00000374647 SNP

NON_SYNONYMOUS_CODING exon_9_112151513_112151659 MISSENSE protein_coding MODERATE ENST00000394827 SNP

NON_SYNONYMOUS_CODING exon_9_117788813_117788974 MISSENSE protein_coding MODERATE ENST00000345230 SNP

NON_SYNONYMOUS_CODING exon_9_124906337_124906657 MISSENSE protein_coding MODERATE ENST00000373768 SNP

NON_SYNONYMOUS_CODING exon_9_131588301_131588431 MISSENSE protein_coding MODERATE ENST00000372618 SNP

NON_SYNONYMOUS_CODING exon_9_134000993_134001076 MISSENSE protein_coding MODERATE ENST00000540899 SNP

STOP_GAINED exon_9_139388896_139392010 NONSENSE protein_coding HIGH ENST00000277541 SNP

NON_SYNONYMOUS_CODING exon_9_140150359_140150522 MISSENSE protein_coding MODERATE ENST00000343053 SNP

FRAME_SHIFT exon_10_696728_698593 NONE protein_coding HIGH ENST00000441152 DELETION

NON_SYNONYMOUS_CODING exon_10_13702316_13702553 MISSENSE protein_coding MODERATE ENST00000358621 SNP

NON_SYNONYMOUS_CODING exon_10_21102868_21102972 MISSENSE protein_coding MODERATE ENST00000377122 SNP

NON_SYNONYMOUS_CODING exon_10_22634652_22634975 MISSENSE protein_coding MODERATE ENST00000376603 SNP

STOP_GAINED exon_10_30653635_30653996 NONSENSE protein_coding HIGH ENST00000358107 SNP

NON_SYNONYMOUS_CODING exon_10_30918522_30918691 MISSENSE processed_transcript MODERATE ENST00000375318 SNP

NON_SYNONYMOUS_CODING exon_10_35484075_35484142 MISSENSE protein_coding MODERATE ENST00000356917 SNP

NON_SYNONYMOUS_CODING exon_10_50530447_50532664 MISSENSE protein_coding MODERATE ENST00000323868 SNP

NON_SYNONYMOUS_CODING exon_10_64564516_64568238 MISSENSE protein_coding MODERATE ENST00000373783 SNP

NON_SYNONYMOUS_CODING exon_10_70706108_70706603 MISSENSE protein_coding MODERATE ENST00000373585 SNP

NON_SYNONYMOUS_CODING exon_10_118969008_118969810 MISSENSE protein_coding MODERATE ENST00000334549 SNP

NON_SYNONYMOUS_CODING exon_10_123842162_123847474 MISSENSE retained_intron MODERATE ENST00000340076 SNP

NON_SYNONYMOUS_CODING exon_10_123842162_123847474 MISSENSE retained_intron MODERATE ENST00000340076 SNP

CODON_CHANGE_PLUS_CODON_DELETION exon_10_129676105_129676684 NONE protein_coding MODERATE ENST00000368671 DELETION

NON_SYNONYMOUS_CODING exon_10_129900843_129907687 MISSENSE protein_coding MODERATE ENST00000368653 SNP

Page 18

KMH2

NON_SYNONYMOUS_CODING exon_10_129913192_129914271 MISSENSE protein_coding MODERATE ENST00000368654 SNP

NON_SYNONYMOUS_CODING exon_11_613206_613595 MISSENSE protein_coding MODERATE ENST00000525445 SNP

NON_SYNONYMOUS_CODING exon_11_1481730_1482944 MISSENSE protein_coding MODERATE ENST00000528841 SNP

NON_SYNONYMOUS_CODING exon_11_4510109_4511138 MISSENSE protein_coding MODERATE ENST00000307632 SNP

NON_SYNONYMOUS_CODING exon_11_6413020_6413272 MISSENSE protein_coding MODERATE ENST00000530395 SNP

NON_SYNONYMOUS_CODING exon_11_6462111_6462294 MISSENSE protein_coding MODERATE ENST00000265983 SNP

NON_SYNONYMOUS_CODING exon_11_6621716_6621812 MISSENSE protein_coding MODERATE ENST00000254605 SNP

NON_SYNONYMOUS_CODING exon_11_17655227_17655421 MISSENSE protein_coding MODERATE ENST00000342528 SNP

NON_SYNONYMOUS_CODING exon_11_22770666_22770807 MISSENSE protein_coding MODERATE ENST00000278187 SNP

NON_SYNONYMOUS_CODING exon_11_27395522_27395593 MISSENSE protein_coding MODERATE ENST00000389858 SNP

NON_SYNONYMOUS_CODING exon_11_46563495_46564531 MISSENSE protein_coding MODERATE ENST00000314823 SNP

FRAME_SHIFT exon_11_55587086_55588073 NONE protein_coding HIGH ENST00000333976 DELETION

NON_SYNONYMOUS_CODING exon_11_56127691_56128764 MISSENSE protein_coding MODERATE ENST00000303039 SNP

NON_SYNONYMOUS_CODING exon_11_57367352_57367850 MISSENSE protein_coding MODERATE ENST00000278407 SNP

NON_SYNONYMOUS_CODING exon_11_62762014_62762228 MISSENSE retained_intron MODERATE ENST00000535878 SNP

NON_SYNONYMOUS_CODING exon_11_62996723_62997124 MISSENSE protein_coding MODERATE ENST00000306494 SNP

NON_SYNONYMOUS_CODING exon_11_66297290_66297423 MISSENSE nonsense_mediated_decay MODERATE ENST00000393994 SNP

NON_SYNONYMOUS_CODING exon_11_67053864_67054007 MISSENSE protein_coding MODERATE ENST00000526285 SNP

NON_SYNONYMOUS_CODING exon_11_71818969_71819165 MISSENSE protein_coding MODERATE ENST00000419228 SNP

NON_SYNONYMOUS_CODING exon_11_72536347_72536452 MISSENSE protein_coding MODERATE ENST00000538973 SNP

NON_SYNONYMOUS_CODING exon_11_75282826_75283827 MISSENSE protein_coding MODERATE ENST00000525876 SNP

NON_SYNONYMOUS_CODING exon_11_102201730_102201972 MISSENSE processed_transcript MODERATE ENST00000263464 SNP

NON_SYNONYMOUS_CODING exon_11_102398255_102398403 MISSENSE protein_coding MODERATE ENST00000260227 SNP

NON_SYNONYMOUS_CODING exon_11_108376159_108385602 MISSENSE protein_coding MODERATE ENST00000443411 SNP

NON_SYNONYMOUS_CODING exon_11_111931762_111931898 MISSENSE protein_coding MODERATE ENST00000537636 SNP

NON_SYNONYMOUS_CODING exon_11_113295089_113295404 MISSENSE protein_coding MODERATE ENST00000346454 SNP

NON_SYNONYMOUS_CODING exon_11_117110517_117110576 MISSENSE protein_coding MODERATE ENST00000300650 SNP

NON_SYNONYMOUS_CODING exon_11_118360507_118360602 MISSENSE protein_coding MODERATE ENST00000354520 SNP

NON_SYNONYMOUS_CODING exon_11_123893720_123894655 MISSENSE protein_coding MODERATE ENST00000375024 SNP

NON_SYNONYMOUS_CODING exon_11_126162372_126162950 MISSENSE processed_transcript MODERATE ENST00000279992 SNP

NON_SYNONYMOUS_CODING exon_12_283765_286390 MISSENSE protein_coding MODERATE ENST00000326261 SNP

NON_SYNONYMOUS_CODING exon_12_7247150_7249759 MISSENSE nonsense_mediated_decay MODERATE ENST00000266542 SNP

NON_SYNONYMOUS_CODING exon_12_8210898_8212791 MISSENSE protein_coding MODERATE ENST00000307637 SNP

FRAME_SHIFT exon_12_10131935_10132123 NONE protein_coding HIGH ENST00000304361 INSERTION

NON_SYNONYMOUS_CODING exon_12_18434978_18435693 MISSENSE protein_coding MODERATE ENST00000266497 SNP

NON_SYNONYMOUS_CODING exon_12_18891045_18892121 MISSENSE protein_coding MODERATE ENST00000317658 SNP

NON_SYNONYMOUS_CODING exon_12_19498776_19498822 MISSENSE protein_coding MODERATE ENST00000539256 SNP

NON_SYNONYMOUS_CODING exon_12_21068938_21069658 MISSENSE protein_coding MODERATE ENST00000261196 SNP

NON_SYNONYMOUS_CODING exon_12_25699308_25699488 MISSENSE protein_coding MODERATE ENST00000413632 SNP

NON_SYNONYMOUS_CODING exon_12_41302156_41302295 MISSENSE protein_coding MODERATE ENST00000347616 SNP

NON_SYNONYMOUS_CODING exon_12_41330583_41330707 MISSENSE protein_coding MODERATE ENST00000348761 SNP

NON_SYNONYMOUS_CODING exon_12_50386333_50386438 MISSENSE protein_coding MODERATE ENST00000549342 SNP

NON_SYNONYMOUS_CODING exon_12_51501019_51501129 MISSENSE protein_coding MODERATE ENST00000548108 SNP

NON_SYNONYMOUS_CODING exon_12_53189182_53189892 MISSENSE protein_coding MODERATE ENST00000309505 SNP

Page 19

KMH2

NON_SYNONYMOUS_CODING exon_12_53664162_53664266 MISSENSE processed_transcript MODERATE ENST00000257934 SNP

NON_SYNONYMOUS_CODING exon_12_56397402_56399309 MISSENSE protein_coding MODERATE ENST00000266971 SNP

NON_SYNONYMOUS_CODING exon_12_56397938_56398457 MISSENSE protein_coding MODERATE ENST00000551841 SNP

NON_SYNONYMOUS_CODING exon_12_59282601_59282744 MISSENSE protein_coding MODERATE ENST00000379141 SNP

NON_SYNONYMOUS_CODING exon_12_66698511_66698930 MISSENSE protein_coding MODERATE ENST00000247815 SNP

FRAME_SHIFT exon_12_80239082_80239200 NONE protein_coding HIGH ENST00000261207 DELETION

NON_SYNONYMOUS_CODING exon_12_80604627_80604666 MISSENSE protein_coding MODERATE ENST00000458043 SNP

NON_SYNONYMOUS_CODING exon_12_81769575_81769721 MISSENSE protein_coding MODERATE ENST00000443686 SNP

NON_SYNONYMOUS_CODING exon_12_82850506_82850599 MISSENSE protein_coding MODERATE ENST00000248306 SNP

NON_SYNONYMOUS_CODING exon_12_85492645_85492772 MISSENSE retained_intron MODERATE ENST00000378580 SNP

NON_SYNONYMOUS_CODING exon_12_85638567_85638883 MISSENSE retained_intron MODERATE ENST00000393217 SNP

NON_SYNONYMOUS_CODING exon_12_95415669_95416179 MISSENSE protein_coding MODERATE ENST00000333003 SNP

NON_SYNONYMOUS_CODING exon_12_100377882_100378015 MISSENSE nonsense_mediated_decay MODERATE ENST00000329257 SNP

STOP_GAINED exon_12_102572370_102572548 NONSENSE protein_coding HIGH ENST00000327680 SNP

FRAME_SHIFT exon_12_107090061_107090224 NONE protein_coding HIGH ENST00000229387 DELETION

NON_SYNONYMOUS_CODING exon_12_112587555_112587675 MISSENSE protein_coding MODERATE ENST00000257604 SNP

NON_SYNONYMOUS_CODING exon_12_116445216_116445441 MISSENSE processed_transcript MODERATE ENST00000281928 SNP

SPLICE_SITE_ACCEPTOR NA NONE protein_coding HIGH ENST00000257552 SNP

FRAME_SHIFT exon_12_121093102_121094075 NONE protein_coding HIGH ENST00000453000 DELETION

NON_SYNONYMOUS_CODING exon_12_124139471_124139545 MISSENSE nonsense_mediated_decay MODERATE ENST00000542231 SNP

FRAME_SHIFT exon_12_130184355_130185243 NONE protein_coding HIGH ENST00000422113 DELETION

NON_SYNONYMOUS_CODING exon_12_133198061_133198126 MISSENSE protein_coding MODERATE ENST00000351222 SNP

NON_SYNONYMOUS_CODING exon_13_20409617_20409829 MISSENSE retained_intron MODERATE ENST00000502168 SNP

NON_SYNONYMOUS_CODING exon_13_20796110_20797634 MISSENSE protein_coding MODERATE ENST00000241124 SNP

NON_SYNONYMOUS_CODING exon_13_23902965_23915829 MISSENSE protein_coding MODERATE ENST00000402364 SNP

NON_SYNONYMOUS_CODING exon_13_37446795_37447052 MISSENSE protein_coding MODERATE ENST00000350148 SNP

NON_SYNONYMOUS_CODING exon_13_38144717_38144806 MISSENSE protein_coding MODERATE ENST00000379742 SNP

NON_SYNONYMOUS_CODING exon_13_39261266_39266654 MISSENSE protein_coding MODERATE ENST00000280481 SNP

NON_SYNONYMOUS_CODING exon_13_52535973_52536049 MISSENSE protein_coding MODERATE ENST00000400366 SNP

NON_SYNONYMOUS_CODING exon_13_52710252_52710395 MISSENSE nonsense_mediated_decay MODERATE ENST00000547422 SNP

NON_SYNONYMOUS_CODING exon_13_67799537_67802572 MISSENSE protein_coding MODERATE ENST00000328454 SNP

NON_SYNONYMOUS_CODING exon_13_78492226_78492759 MISSENSE protein_coding MODERATE ENST00000377211 SNP

NON_SYNONYMOUS_CODING exon_13_103459705_103460095 MISSENSE protein_coding MODERATE ENST00000418659 SNP

NON_SYNONYMOUS_CODING exon_13_110863994_110864020 MISSENSE protein_coding MODERATE ENST00000375820 SNP

FRAME_SHIFT exon_13_114079367_114079494 NONE protein_coding HIGH ENST00000356501 DELETION

NON_SYNONYMOUS_CODING exon_14_21834598_21834688 MISSENSE protein_coding MODERATE ENST00000216297 SNP

NON_SYNONYMOUS_CODING exon_14_23072295_23072667 MISSENSE protein_coding MODERATE ENST00000428304 SNP

NON_SYNONYMOUS_CODING exon_14_47504214_47504507 MISSENSE protein_coding MODERATE ENST00000357362 SNP

NON_SYNONYMOUS_CODING exon_14_50550369_50550727 MISSENSE protein_coding MODERATE ENST00000305273 SNP

NON_SYNONYMOUS_CODING exon_14_50605330_50605502 MISSENSE protein_coding MODERATE ENST00000543680 SNP

NON_SYNONYMOUS_CODING exon_14_51273455_51273536 MISSENSE protein_coding MODERATE ENST00000453401 SNP

NON_SYNONYMOUS_CODING exon_14_77872996_77873218 MISSENSE protein_coding MODERATE ENST00000298358 SNP

NON_SYNONYMOUS_CODING exon_14_81651875_81651964 MISSENSE protein_coding MODERATE ENST00000344860 SNP

NON_SYNONYMOUS_CODING exon_14_99864083_99865462 MISSENSE protein_coding MODERATE ENST00000331768 SNP

Page 20

KMH2

NON_SYNONYMOUS_CODING exon_14_103988638_103988842 MISSENSE protein_coding MODERATE ENST00000348956 SNP

NON_SYNONYMOUS_CODING exon_15_27773079_27773138 MISSENSE protein_coding MODERATE ENST00000333743 SNP

NON_SYNONYMOUS_CODING exon_15_30112730_30112877 MISSENSE protein_coding MODERATE ENST00000400011 SNP

NON_SYNONYMOUS_CODING exon_15_31341578_31341712 MISSENSE protein_coding MODERATE ENST00000397793 SNP

NON_SYNONYMOUS_CODING exon_15_40500856_40500971 MISSENSE protein_coding MODERATE ENST00000442874 SNP

NON_SYNONYMOUS_CODING exon_15_42143257_42143348 MISSENSE protein_coding MODERATE ENST00000320955 SNP

NON_SYNONYMOUS_CODING exon_15_42168746_42168845 MISSENSE protein_coding MODERATE ENST00000320955 SNP

NON_SYNONYMOUS_CODING exon_15_42171458_42171697 MISSENSE protein_coding MODERATE ENST00000320955 SNP

NON_SYNONYMOUS_CODING exon_15_43571315_43571475 MISSENSE protein_coding MODERATE ENST00000452443 SNP

NON_SYNONYMOUS_CODING exon_15_44048847_44048964 MISSENSE protein_coding MODERATE ENST00000300289 SNP

NON_SYNONYMOUS_CODING exon_15_44955589_44955862 MISSENSE protein_coding MODERATE ENST00000261866 SNP

NON_SYNONYMOUS_CODING exon_15_45470363_45470504 MISSENSE protein_coding MODERATE ENST00000290894 SNP

NON_SYNONYMOUS_CODING exon_15_49303928_49304060 MISSENSE protein_coding MODERATE ENST00000261847 SNP

NON_SYNONYMOUS_CODING exon_15_54305101_54308083 MISSENSE protein_coding MODERATE ENST00000260323 SNP

NON_SYNONYMOUS_CODING exon_15_54914525_54914617 MISSENSE protein_coding MODERATE ENST00000537900 SNP

NON_SYNONYMOUS_CODING exon_15_66819628_66819721 MISSENSE protein_coding MODERATE ENST00000446801 SNP

NON_SYNONYMOUS_CODING exon_15_78384927_78385102 MISSENSE protein_coding MODERATE ENST00000328828 SNP

FRAME_SHIFT exon_15_78882147_78882978 NONE protein_coding HIGH ENST00000299565 DELETION

NON_SYNONYMOUS_CODING exon_15_79045455_79045715 MISSENSE protein_coding MODERATE ENST00000434914 SNP

STOP_GAINED exon_15_91485667_91485835 NONSENSE processed_transcript HIGH ENST00000394275 SNP

NON_SYNONYMOUS_CODING exon_16_461361_461578 MISSENSE protein_coding MODERATE ENST00000424398 SNP

NON_SYNONYMOUS_CODING exon_16_1257275_1257430 MISSENSE protein_coding MODERATE ENST00000348261 SNP

STOP_LOST exon_16_1415000_1416396 MISSENSE protein_coding HIGH ENST00000397464 SNP

NON_SYNONYMOUS_CODING exon_16_1445645_1445813 MISSENSE protein_coding MODERATE ENST00000397462 SNP

NON_SYNONYMOUS_CODING exon_16_2223183_2223400 MISSENSE protein_coding MODERATE ENST00000326181 SNP

NON_SYNONYMOUS_CODING exon_16_2811562_2818262 MISSENSE protein_coding MODERATE ENST00000426305 SNP

NON_SYNONYMOUS_CODING exon_16_3117378_3117416 MISSENSE protein_coding MODERATE ENST00000008180 SNP

STOP_GAINED exon_16_4163751_4165486 NONSENSE protein_coding HIGH ENST00000294016 SNP

NON_SYNONYMOUS_CODING exon_16_14029003_14029601 MISSENSE protein_coding MODERATE ENST00000389138 SNP

NON_SYNONYMOUS_CODING exon_16_19746675_19746772 MISSENSE protein_coding MODERATE ENST00000308214 SNP

NON_SYNONYMOUS_CODING exon_16_21261052_21263750 MISSENSE protein_coding MODERATE ENST00000311620 SNP

NON_SYNONYMOUS_CODING exon_16_21728228_21728368 MISSENSE protein_coding MODERATE ENST00000388957 SNP

SPLICE_SITE_ACCEPTOR NA NONE protein_coding HIGH ENST00000540145 SNP

NON_SYNONYMOUS_CODING exon_16_52553318_52553491 MISSENSE protein_coding MODERATE ENST00000407228 SNP

NON_SYNONYMOUS_CODING exon_16_61760998_61761119 MISSENSE protein_coding MODERATE ENST00000299345 SNP

NON_SYNONYMOUS_CODING exon_16_88675342_88675459 MISSENSE protein_coding MODERATE ENST00000545404 SNP

NON_SYNONYMOUS_CODING exon_16_88781590_88781728 MISSENSE protein_coding MODERATE ENST00000378384 SNP

STOP_GAINED exon_16_89234517_89235555 NONSENSE protein_coding HIGH ENST00000378340 SNP

FRAME_SHIFT exon_17_3352101_3352443 NONE protein_coding HIGH ENST00000268981 DELETION

CODON_DELETION exon_17_4500467_4500618 NONE protein_coding MODERATE ENST00000338859 DELETION

NON_SYNONYMOUS_CODING exon_17_5383374_5383464 MISSENSE protein_coding MODERATE ENST00000158771 SNP

NON_SYNONYMOUS_CODING exon_17_6673962_6674303 MISSENSE protein_coding MODERATE ENST00000346752 SNP

NON_SYNONYMOUS_CODING exon_17_7362685_7367209 MISSENSE protein_coding MODERATE ENST00000311403 SNP

NON_SYNONYMOUS_CODING exon_17_7727152_7727300 MISSENSE protein_coding MODERATE ENST00000360606 SNP

Page 21

KMH2

NON_SYNONYMOUS_CODING exon_17_7951704_7952428 MISSENSE protein_coding MODERATE ENST00000339694 SNP

NON_SYNONYMOUS_CODING exon_17_9680510_9680602 MISSENSE protein_coding MODERATE ENST00000330255 SNP

NON_SYNONYMOUS_CODING exon_17_17720570_17720771 MISSENSE processed_transcript MODERATE ENST00000395756 SNP

NON_SYNONYMOUS_CODING exon_17_18167024_18169095 MISSENSE protein_coding MODERATE ENST00000323019 SNP

NON_SYNONYMOUS_CODING exon_17_18538842_18539910 MISSENSE protein_coding MODERATE ENST00000345096 SNP

NON_SYNONYMOUS_CODING exon_17_19835118_19835291 MISSENSE protein_coding MODERATE ENST00000225737 SNP

SPLICE_SITE_ACCEPTOR NA NONE protein_coding HIGH ENST00000324238 DELETION

NON_SYNONYMOUS_CODING exon_17_34881059_34881172 MISSENSE protein_coding MODERATE ENST00000268852 SNP

NON_SYNONYMOUS_CODING exon_17_36481493_36487414 MISSENSE protein_coding MODERATE ENST00000342292 SNP

NON_SYNONYMOUS_CODING exon_17_38710021_38712070 MISSENSE protein_coding MODERATE ENST00000246657 SNP

NON_SYNONYMOUS_CODING exon_17_41327808_41327918 MISSENSE protein_coding MODERATE ENST00000341165 SNP

NON_SYNONYMOUS_CODING exon_17_42430585_42432559 MISSENSE protein_coding MODERATE ENST00000293443 SNP

FRAME_SHIFT exon_17_46882134_46882353 NONE protein_coding HIGH ENST00000393382 INSERTION

NON_SYNONYMOUS_CODING exon_17_47246885_47247351 MISSENSE protein_coding MODERATE ENST00000504681 SNP

NON_SYNONYMOUS_CODING exon_17_47655958_47657720 MISSENSE protein_coding MODERATE ENST00000328741 SNP

CODON_CHANGE_PLUS_CODON_INSERTION exon_17_48776760_48777254 NONE protein_coding MODERATE ENST00000285243 INSERTION

FRAME_SHIFT exon_17_55821842_55822673 NONE protein_coding HIGH ENST00000299415 DELETION

NON_SYNONYMOUS_CODING exon_17_56060060_56060754 MISSENSE protein_coding MODERATE ENST00000258963 SNP

FRAME_SHIFT exon_17_61488872_61489047 NONE protein_coding HIGH ENST00000389520 DELETION

NON_SYNONYMOUS_CODING exon_17_67121029_67121176 MISSENSE protein_coding MODERATE ENST00000284425 SNP

NON_SYNONYMOUS_CODING exon_17_71334078_71335079 MISSENSE protein_coding MODERATE ENST00000424778 SNP

FRAME_SHIFT exon_17_73945799_73945978 NONE protein_coding HIGH ENST00000293217 DELETION

NON_SYNONYMOUS_CODING exon_17_76419778_76420234 MISSENSE nonsense_mediated_decay MODERATE ENST00000300671 SNP

NON_SYNONYMOUS_CODING exon_17_76440686_76440879 MISSENSE nonsense_mediated_decay MODERATE ENST00000389840 SNP

NON_SYNONYMOUS_CODING exon_17_76565457_76565609 MISSENSE nonsense_mediated_decay MODERATE ENST00000300671 SNP

NON_SYNONYMOUS_CODING exon_17_78222953_78223086 MISSENSE protein_coding MODERATE ENST00000361193 SNP

NON_SYNONYMOUS_CODING exon_17_78444327_78444834 MISSENSE protein_coding MODERATE ENST00000535681 SNP

NON_SYNONYMOUS_CODING exon_18_6171827_6171941 MISSENSE protein_coding MODERATE ENST00000535782 SNP

FRAME_SHIFT exon_18_12325066_12326568 NONE protein_coding HIGH ENST00000317702 DELETION

NON_SYNONYMOUS_CODING exon_18_29052247_29052386 MISSENSE protein_coding MODERATE ENST00000257189 SNP

NON_SYNONYMOUS_CODING exon_18_51804073_51804225 MISSENSE protein_coding MODERATE ENST00000217800 SNP

NON_SYNONYMOUS_CODING exon_18_56939593_56939846 MISSENSE protein_coding MODERATE ENST00000334889 SNP

NON_SYNONYMOUS_CODING exon_18_74980541_74980858 MISSENSE protein_coding MODERATE ENST00000299727 SNP

NON_SYNONYMOUS_CODING exon_18_77488907_77489069 MISSENSE protein_coding MODERATE ENST00000299543 SNP

NON_SYNONYMOUS_CODING exon_19_812518_813895 MISSENSE protein_coding MODERATE ENST00000520876 SNP

NON_SYNONYMOUS_CODING exon_19_4429435_4429603 MISSENSE protein_coding MODERATE ENST00000301280 SNP

NON_SYNONYMOUS_CODING exon_19_9523272_9525396 MISSENSE protein_coding MODERATE ENST00000361151 SNP

FRAME_SHIFT exon_19_9638683_9640312 NONE protein_coding HIGH ENST00000253115 DELETION

NON_SYNONYMOUS_CODING exon_19_10668840_10668915 MISSENSE retained_intron MODERATE ENST00000361821 SNP

NON_SYNONYMOUS_CODING exon_19_11036362_11036449 MISSENSE protein_coding MODERATE ENST00000253031 SNP

CODON_CHANGE_PLUS_CODON_DELETION exon_19_11470208_11470396 NONE protein_coding MODERATE ENST00000251473 DELETION

NON_SYNONYMOUS_CODING exon_19_12186127_12192380 MISSENSE protein_coding MODERATE ENST00000439326 SNP

NON_SYNONYMOUS_CODING exon_19_13470420_13470613 MISSENSE protein_coding MODERATE ENST00000325084 SNP

NON_SYNONYMOUS_CODING exon_19_14626461_14626982 MISSENSE protein_coding MODERATE ENST00000396969 SNP

Page 22

KMH2

NON_SYNONYMOUS_CODING exon_19_17270205_17270294 MISSENSE protein_coding MODERATE ENST00000397274 SNP

NON_SYNONYMOUS_CODING exon_19_17611304_17611441 MISSENSE protein_coding MODERATE ENST00000252595 SNP

NON_SYNONYMOUS_CODING exon_19_17716860_17717163 MISSENSE protein_coding MODERATE ENST00000550896 SNP

NON_SYNONYMOUS_CODING exon_19_33233687_33233806 MISSENSE protein_coding MODERATE ENST00000421545 SNP

NON_SYNONYMOUS_CODING exon_19_36351811_36351938 MISSENSE protein_coding MODERATE ENST00000347900 SNP

NON_SYNONYMOUS_CODING exon_19_37642491_37642772 MISSENSE protein_coding MODERATE ENST00000355533 SNP

NON_SYNONYMOUS_CODING exon_19_38375572_38380916 MISSENSE protein_coding MODERATE ENST00000303868 SNP

NON_SYNONYMOUS_CODING exon_19_41442297_41442446 MISSENSE protein_coding MODERATE ENST00000541697 SNP

NON_SYNONYMOUS_CODING exon_19_42746927_42749125 MISSENSE protein_coding MODERATE ENST00000378108 SNP

NON_SYNONYMOUS_CODING exon_19_42857080_42857279 MISSENSE protein_coding MODERATE ENST00000334370 SNP

NON_SYNONYMOUS_CODING exon_19_42906759_42907183 MISSENSE protein_coding MODERATE ENST00000244289 SNP

NON_SYNONYMOUS_CODING exon_19_46307510_46308274 MISSENSE protein_coding MODERATE ENST00000221538 SNP

NON_SYNONYMOUS_CODING exon_19_47193857_47193963 MISSENSE protein_coding MODERATE ENST00000291281 SNP

NON_SYNONYMOUS_CODING exon_19_48259945_48260001 MISSENSE protein_coding MODERATE ENST00000446535 SNP

FRAME_SHIFT exon_19_50910240_50910431 NONE protein_coding HIGH ENST00000376930 DELETION

NON_SYNONYMOUS_CODING exon_19_52022984_52023509 MISSENSE protein_coding MODERATE ENST00000436458 SNP

NON_SYNONYMOUS_CODING exon_19_52567719_52570863 MISSENSE protein_coding MODERATE ENST00000389534 SNP

NON_SYNONYMOUS_CODING exon_19_52887102_52889048 MISSENSE protein_coding MODERATE ENST00000422689 SNP

NON_SYNONYMOUS_CODING exon_19_53611133_53613161 MISSENSE protein_coding MODERATE ENST00000440291 SNP

NON_SYNONYMOUS_CODING exon_19_57035693_57040270 MISSENSE protein_coding MODERATE ENST00000308031 SNP

NON_SYNONYMOUS_CODING exon_19_58048572_58052124 MISSENSE protein_coding MODERATE ENST00000240719 SNP

NON_SYNONYMOUS_CODING exon_19_58082935_58085069 MISSENSE protein_coding MODERATE ENST00000196489 SNP

FRAME_SHIFT exon_19_58101379_58103758 NONE protein_coding HIGH ENST00000307468 DELETION

NON_SYNONYMOUS_CODING exon_19_58380747_58386594 MISSENSE protein_coding MODERATE ENST00000435989 SNP

NON_SYNONYMOUS_CODING exon_19_58991010_58991386 MISSENSE protein_coding MODERATE ENST00000391694 SNP

FRAME_SHIFT exon_20_239718_241737 NONE protein_coding HIGH ENST00000382376 DELETION

NON_SYNONYMOUS_CODING exon_20_3776482_3777378 MISSENSE protein_coding MODERATE ENST00000245960 SNP

NON_SYNONYMOUS_CODING exon_20_16359450_16360808 MISSENSE protein_coding MODERATE ENST00000378003 SNP

NON_SYNONYMOUS_CODING exon_20_16362339_16362392 MISSENSE protein_coding MODERATE ENST00000354981 SNP

NON_SYNONYMOUS_CODING exon_20_25320258_25320367 MISSENSE protein_coding MODERATE ENST00000450393 SNP

NON_SYNONYMOUS_CODING exon_20_33575360_33575478 MISSENSE protein_coding MODERATE ENST00000262873 SNP

NON_SYNONYMOUS_CODING exon_20_40045838_40045989 MISSENSE protein_coding MODERATE ENST00000373233 SNP

NON_SYNONYMOUS_CODING exon_20_45848909_45848975 MISSENSE protein_coding MODERATE ENST00000458360 SNP

NON_SYNONYMOUS_CODING exon_20_51871420_51872983 MISSENSE protein_coding MODERATE ENST00000450262 SNP

NON_SYNONYMOUS_CODING exon_20_52198000_52199636 MISSENSE protein_coding MODERATE ENST00000302342 SNP

NON_SYNONYMOUS_CODING exon_20_54940143_54940318 MISSENSE protein_coding MODERATE ENST00000371384 SNP

FRAME_SHIFT exon_20_56735717_56736206 NONE protein_coding HIGH ENST00000371168 DELETION

FRAME_SHIFT exon_20_57428511_57430388 NONE protein_coding HIGH ENST00000306120 DELETION

NON_SYNONYMOUS_CODING exon_20_61916218_61916274 MISSENSE protein_coding MODERATE ENST00000519273 SNP

NON_SYNONYMOUS_CODING exon_20_62193873_62197584 MISSENSE protein_coding MODERATE ENST00000427522 SNP

NON_SYNONYMOUS_CODING exon_21_16333556_16340847 MISSENSE protein_coding MODERATE ENST00000318948 SNP

CODON_CHANGE_PLUS_CODON_INSERTION exon_21_27394156_27394358 NONE protein_coding MODERATE ENST00000354192 INSERTION

SPLICE_SITE_ACCEPTOR NA NONE protein_coding HIGH ENST00000399975 SNP

NON_SYNONYMOUS_CODING exon_21_30698380_30699714 MISSENSE protein_coding MODERATE ENST00000286800 SNP

Page 23

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NON_SYNONYMOUS_CODING exon_21_31587531_31588352 MISSENSE protein_coding MODERATE ENST00000286809 SNP

NON_SYNONYMOUS_CODING exon_21_31988750_31989003 MISSENSE protein_coding MODERATE ENST00000334664 SNP

STOP_GAINED exon_21_32492675_32493155 NONSENSE protein_coding HIGH ENST00000541036 SNP

NON_SYNONYMOUS_CODING exon_21_37417880_37418309 MISSENSE protein_coding MODERATE ENST00000399201 SNP

NON_SYNONYMOUS_CODING exon_21_46086106_46086844 MISSENSE protein_coding MODERATE ENST00000360770 SNP

NON_SYNONYMOUS_CODING exon_22_19220945_19221145 MISSENSE protein_coding MODERATE ENST00000263200 SNP

NON_SYNONYMOUS_CODING exon_22_19960642_19960840 MISSENSE protein_coding MODERATE ENST00000406522 SNP

NON_SYNONYMOUS_CODING exon_22_20102097_20102208 MISSENSE protein_coding MODERATE ENST00000252136 SNP

NON_SYNONYMOUS_CODING exon_22_20113826_20114704 MISSENSE protein_coding MODERATE ENST00000430524 SNP

NON_SYNONYMOUS_CODING exon_22_20785305_20785824 MISSENSE protein_coding MODERATE ENST00000266214 SNP

NON_SYNONYMOUS_CODING exon_22_31529392_31529469 MISSENSE processed_transcript MODERATE ENST00000401755 SNP

NON_SYNONYMOUS_CODING exon_22_32108069_32113277 MISSENSE protein_coding MODERATE ENST00000327423 SNP

NON_SYNONYMOUS_CODING exon_22_36536378_36538106 MISSENSE protein_coding MODERATE ENST00000361710 SNP

NON_SYNONYMOUS_CODING exon_22_37325681_37325849 MISSENSE protein_coding MODERATE ENST00000421539 SNP

NON_SYNONYMOUS_CODING exon_22_37333419_37334736 MISSENSE protein_coding MODERATE ENST00000536485 SNP

NON_SYNONYMOUS_CODING exon_22_40042574_40042886 MISSENSE protein_coding MODERATE ENST00000336649 SNP

NON_SYNONYMOUS_CODING exon_22_40061886_40062011 MISSENSE protein_coding MODERATE ENST00000400164 SNP

NON_SYNONYMOUS_CODING exon_22_42605657_42611446 MISSENSE protein_coding MODERATE ENST00000335626 SNP

STOP_GAINED exon_22_50013292_50014308 NONSENSE nonsense_mediated_decay HIGH ENST00000400023 SNP

NON_SYNONYMOUS_CODING exon_22_50656347_50656546 MISSENSE protein_coding MODERATE ENST00000248846 SNP

NON_SYNONYMOUS_CODING exon_22_50903644_50903757 MISSENSE protein_coding MODERATE ENST00000380817 SNP

NON_SYNONYMOUS_CODING exon_X_32398627_32398797 MISSENSE protein_coding MODERATE ENST00000535280 SNP

NON_SYNONYMOUS_CODING exon_X_38008589_38009147 MISSENSE protein_coding MODERATE ENST00000432886 SNP

FRAME_SHIFT exon_X_39931602_39934433 NONE protein_coding HIGH ENST00000342274 DELETION

NON_SYNONYMOUS_CODING exon_X_40569231_40569381 MISSENSE protein_coding MODERATE ENST00000324817 SNP

NON_SYNONYMOUS_CODING exon_X_44037613_44037810 MISSENSE protein_coding MODERATE ENST00000343571 SNP

NON_SYNONYMOUS_CODING exon_X_47271768_47273704 MISSENSE protein_coding MODERATE ENST00000377073 SNP

NON_SYNONYMOUS_CODING exon_X_49834534_49834685 MISSENSE protein_coding MODERATE ENST00000307367 SNP

NON_SYNONYMOUS_CODING exon_X_50051505_50054496 MISSENSE processed_transcript MODERATE ENST00000276014 SNP

NON_SYNONYMOUS_CODING exon_X_53438711_53438851 MISSENSE protein_coding MODERATE ENST00000375340 SNP

NON_SYNONYMOUS_CODING exon_X_77270159_77270250 MISSENSE protein_coding MODERATE ENST00000343533 SNP

NON_SYNONYMOUS_CODING exon_X_84362334_84363974 MISSENSE protein_coding MODERATE ENST00000332921 SNP

NON_SYNONYMOUS_CODING exon_X_85769282_85769394 MISSENSE protein_coding MODERATE ENST00000373131 SNP

NON_SYNONYMOUS_CODING exon_X_100910267_100912701 MISSENSE protein_coding MODERATE ENST00000328766 SNP

NON_SYNONYMOUS_CODING exon_X_106456103_106456258 MISSENSE protein_coding MODERATE ENST00000336387 SNP

NON_SYNONYMOUS_CODING exon_X_131205097_131205245 MISSENSE protein_coding MODERATE ENST00000394335 SNP

CODON_DELETION exon_X_136648301_136649910 NONE protein_coding MODERATE ENST00000287538 DELETION

STOP_GAINED exon_X_138684565_138684657 NONSENSE protein_coding HIGH ENST00000446225 SNP

NON_SYNONYMOUS_CODING exon_X_140993195_140997174 MISSENSE protein_coding MODERATE ENST00000285879 SNP

NON_SYNONYMOUS_CODING exon_X_147743429_147744289 MISSENSE protein_coding MODERATE ENST00000342251 SNP

NON_SYNONYMOUS_CODING exon_X_153032328_153033368 MISSENSE protein_coding MODERATE ENST00000361971 SNP

Page 24

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dbNSFP_Ensembl_transcriptid Polyphen2 SIFT_score IsHom

NA NA NA 1

ENST00000270720 P|P 0,09 0

ENST00000294599|ENST00000356575 D|D 0,32 0

NA NA NA 0

ENST00000361445|ENST00000376838 D 0,05 0

ENST00000314011|ENST00000374609|ENST00000374608 B 0,00 0

ENST00000374168|ENST00000374166|ENST00000526792|ENST00000374162|ENST00000530003|ENST00000531382 B|P|B 0,00 0

ENST00000401073|ENST00000373481|ENST00000373480 D|D|D 0,00 0

ENST00000401073|ENST00000373481|ENST00000373480 D|D|D 0,01 0

ENST00000357182 B 0,92 0

ENST00000373001 D|D 0,00 0

ENST00000372492 NA 0,33 0

ENST00000359947|ENST00000438120|ENST00000372414|ENST00000372413,ENST00000412568 D|D 0,13 0

ENST00000360584|ENST00000357730|ENST00000528803 B|B|B 0,46 0

ENST00000371204 B 0,00 0

ENST00000371080|ENST00000371079|ENST00000544776 D|B 0,01 0

ENST00000263441|ENST00000395325|ENST00000371069 P|D 0,04 0

ENST00000262340 P 0,13 0

ENST00000454967 NA 0,00 0

ENST00000370566|ENST00000460698|ENST00000317336|ENST00000370567|ENST00000394731 D|D|D 0,00 0

ENST00000424264 NA 0,00 0

ENST00000371846,ENST00000490388 NA 0,14 0

ENST00000527748|ENST00000286603 D 0,00 0

NA NA NA 1

ENST00000336338 B 0,83 0

ENST00000256646|ENST00000539617 D|P|D 0,27 0

ENST00000368985 B 1,00 0

ENST00000368742|ENST00000392652 B 0,00 0

ENST00000271857 NA 0,00 0

ENST00000368465|ENST00000368463|ENST00000351146|ENST00000539880|ENST00000543593|ENST00000542459 P 0,00 0

ENST00000368041|ENST00000341032|ENST00000263285|ENST00000542780|ENST00000368039|ENST00000392203|ENST00000368037 B|B|B|B|B|B 0,23 0

ENST00000367993|ENST00000392179 B|B 0,31 0

ENST00000367868 P 0,01 0

ENST00000367750|ENST00000433267|ENST00000354841 B|D 0,26 0

NA NA NA 0

ENST00000367662|ENST00000367661 D|D 0,00 0

ENST00000367570|ENST00000526775|ENST00000357570|ENST00000358338|ENST00000367567|ENST00000360108|ENST00000367573 P|P 0,00 0

ENST00000335211 NA NA 0

NA NA NA 0

ENST00000367033 B 0,05 0

ENST00000413764|ENST00000541565|ENST00000545154|ENST00000537898|ENST00000391905|ENST00000545781|ENST00000261458|ENST00000308852|ENST00000367010|ENST00000367009D|D|D|D|D 0,40 0

ENST00000307340|ENST00000366943 B 0,22 0

ENST00000307340|ENST00000366943 D 0,10 0

Page 25

KMH2

ENST00000366923 B 0,01 0

ENST00000340934|ENST00000537020|ENST00000539697 D|P|D 0,23 0

ENST00000445597|ENST00000430092|ENST00000439375|ENST00000328556 B 0,06 0

ENST00000255380 P 0,00 1

ENST00000366534|ENST00000428042|ENST00000366531 D|B 0,38 0

ENST00000407071|ENST00000366518|ENST00000413001 B|B 0,24 0

ENST00000422464 NA NA 0

ENST00000441750|ENST00000281513|ENST00000433283|ENST00000423602,ENST00000442506 NA 0,00 0

ENST00000405799 NA 0,35 0

ENST00000405799 NA 0,62 0

ENST00000264712|ENST00000542511|ENST00000405914 B|B 0,39 0

ENST00000323064|ENST00000360131 B|B|B 0,81 0

ENST00000421745 B 0,82 0

ENST00000379245|ENST00000305852|ENST00000405912|ENST00000357996,ENST00000441005 D|B|D|B 0,18 0

ENST00000378954|ENST00000406122|ENST00000402054|ENST00000539122|ENST00000332337|ENST00000419554|ENST00000452935|ENST00000546051 B|B|B|B|B 0,52 0

NA NA NA 1

ENST00000233616|ENST00000452063|ENST00000448666 B 0,29 0

NA NA NA 0

NA NA NA 0

ENST00000357765|ENST00000409975|ENST00000409347 P 0,17 0

ENST00000393437|ENST00000409647 D 0,03 0

ENST00000409491|ENST00000283195 P 0,41 0

ENST00000245796|ENST00000441564 B|P|B 0,08 0

ENST00000263713|ENST00000443902|ENST00000452780 B|B|B 0,47 0

ENST00000429703,ENST00000409478|ENST00000264160|ENST00000329971|ENST00000410054|ENST00000409606,ENST00000445855 P|B|B|B 0,18 0

ENST00000283233|ENST00000409187 B|B 0,35 0

ENST00000454300|ENST00000263635 B NA 0

ENST00000426648 NA 1,00 0

NA NA NA 0

ENST00000188790|ENST00000443424 D|D|D 0,00 0

ENST00000188790|ENST00000443424 D|D|D 0,00 0

NA NA NA 1

NA NA NA 0

ENST00000331462 P|P 0,23 0

ENST00000331462 B|B 0,25 0

ENST00000342992|ENST00000460472|ENST00000342175|ENST00000359218|ENST00000356127 P|P|P|P 0,00 0

ENST00000342992|ENST00000460472|ENST00000342175|ENST00000359218|ENST00000356127 D|D|D|D 0,00 0

ENST00000342992|ENST00000460472|ENST00000342175|ENST00000359218|ENST00000356127 D|D|D|D 0,00 0

ENST00000360870|ENST00000306136 NA 0,23 0

ENST00000342992|ENST00000460472|ENST00000342175|ENST00000359218|ENST00000356127|ENST00000360870 D|D|D|D|D 0,00 0

ENST00000343098|ENST00000424728 NA 0,09 1

ENST00000409718|ENST00000358677|ENST00000409988|ENST00000409385|ENST00000451764|ENST00000360760|ENST00000409140|ENST00000409755|ENST00000409151D|D|D 0,00 1

NA NA NA 0

ENST00000453237|ENST00000318507 D 0,00 0

Page 26

KMH2

ENST00000392054|ENST00000409462|ENST00000392055|ENST00000542363|ENST00000354069 P|B|B|B NA 1

NA NA NA 1

ENST00000254654|ENST00000457149 B 0,17 1

ENST00000357716|ENST00000486284|ENST00000389336|ENST00000403881|ENST00000525747|ENST00000402647|ENST00000413492 B|B|B 0,38 0

NA NA NA 0

ENST00000251849|ENST00000442415|ENST00000432427|ENST00000542177 D|P 0,00 0

ENST00000253697|ENST00000435614|ENST00000412910 B|B 0,43 0

ENST00000454457 NA 0,07 0

ENST00000425792|ENST00000452894|ENST00000396703 P 0,01 0

ENST00000396251|ENST00000340369 B|B 1,00 0

ENST00000302392 P 0,04 0

ENST00000383738|ENST00000264723 B|B 0,70 0

ENST00000288266 D|D 0,01 0

ENST00000482387|ENST00000394474 P NA 0

ENST00000318789|ENST00000318796|ENST00000475937|ENST00000339693|ENST00000491238|ENST00000493089|ENST00000498215|ENST00000468577|ENST00000485326|ENST00000497553D|D|D 0,00 0

ENST00000506979,ENST00000324093 B|D 1,00 0

NA NA NA 0

ENST00000327532 P 0,03 0

ENST00000327532 NA 0,04 0

ENST00000264982|ENST00000542237|ENST00000489254|ENST00000484888|ENST00000474781|ENST00000481834|ENST00000468900|ENST00000462419|ENST00000464035B|B|B|B 0,15 0

ENST00000264951|ENST00000392981|ENST00000463916 D|P|P 0,02 0

ENST00000425436|ENST00000490689|ENST00000389589|ENST00000313019|ENST00000441443|ENST00000483851 D|D|D 0,00 0

ENST00000326448|ENST00000483465|ENST00000496589 B 1,00 0

ENST00000428432|ENST00000335556 D 0,00 0

ENST00000430069|ENST00000457928|ENST00000536758 B 1,00 0

ENST00000489868|ENST00000442201,ENST00000473854 D 0,61 0

ENST00000463781|ENST00000475231|ENST00000392409 B|B 0,79 0

ENST00000316664 NA 0,19 0

ENST00000398567|ENST00000314167|ENST00000511163,ENST00000511980 P|P|P|P 0,15 0

NA NA NA 1

ENST00000538197|ENST00000541112|ENST00000442003 NA 0,00 0

ENST00000422728 B 0,11 0

ENST00000511884,ENST00000361762|ENST00000543491|ENST00000333135 P|B|P 0,00 0

ENST00000261435|ENST00000381804|ENST00000515550 B|B 0,47 0

ENST00000226355 P 0,01 0

ENST00000388914 D 0,12 0

ENST00000388914 P 0,15 0

ENST00000427191|ENST00000436978|ENST00000316707|ENST00000411767|ENST00000511467|ENST00000357349 B|B|B|P 0,07 0

NA NA NA 0

ENST00000295266 NA 0,01 0

ENST00000522676 NA 0,04 0

ENST00000296411|ENST00000544031|ENST00000510133|ENST00000514051 B NA 0

ENST00000265165|ENST00000379951|ENST00000438313 B|B|B 0,87 0

ENST00000264501|ENST00000388738|ENST00000455637,ENST00000419325 D|D|D 0,10 0

Page 27

KMH2

ENST00000274008 B|B 0,60 0

ENST00000394329 D 0,03 0

ENST00000394329|ENST00000335110 B|P|P 0,01 0

ENST00000329798 NA 0,13 0

NA NA NA 1

ENST00000357232 D 0,24 0

ENST00000505154|ENST00000502959|ENST00000505764|ENST00000507146|ENST00000264424|ENST00000503520|ENST00000513437 D|P|D|D|P 0,47 0

NA NA NA 0

ENST00000337222|ENST00000296530|ENST00000393807|ENST00000505460 D|D 0,01 0

ENST00000505478 NA 0,00 0

NA NA NA 0

ENST00000441802|ENST00000260147 D 0,00 1

ENST00000303115|ENST00000505875 P 0,11 0

ENST00000265107 B 0,13 0

NA NA NA 1

NA NA NA 0

ENST00000230882|ENST00000357703|ENST00000356276 D 0,00 0

NA NA NA 0

NA NA NA 0

ENST00000296794|ENST00000545377|ENST00000513042|ENST00000287898|ENST00000437974|ENST00000426542|ENST00000296799 B|B|B|B|B 0,09 0

ENST00000296794|ENST00000545377|ENST00000513042|ENST00000287898|ENST00000437974|ENST00000426542|ENST00000296799 P|P|P|P|P 0,00 0

ENST00000504142,ENST00000405460|ENST00000296619|ENST00000399043 P 0,21 1

ENST00000310954 D 0,02 0

ENST00000513807|ENST00000509442|ENST00000355943|ENST00000514046|ENST00000447245|ENST00000504098|ENST00000509432 D|P 0,24 0

ENST00000311085|ENST00000539542 P|P 0,23 0

ENST00000305031 D NA 0

ENST00000504120|ENST00000394633|ENST00000378133 B|B|B 0,12 0

ENST00000515856|ENST00000239449 P 0,04 0

ENST00000306593 B|B 0,19 0

ENST00000255266 B 0,00 0

ENST00000318060|ENST00000313708|ENST00000517373 D|D|D 0,06 0

ENST00000318060|ENST00000313708|ENST00000517373 D|D|D 0,00 0

ENST00000274545|ENST00000523217 B 0,31 0

ENST00000540914|ENST00000510784 B 0,02 0

ENST00000377143|ENST00000396806 P 0,22 0

ENST00000375911|ENST00000538106 D 0,02 0

ENST00000375663 B 0,05 0

ENST00000374458 NA 0,16 0

ENST00000374316 B 0,14 0

ENST00000372903|ENST00000372899|ENST00000372901 B|B 0,52 0

ENST00000296861 B 0,10 0

ENST00000514921|ENST00000503951|ENST00000502396 P|P|P 0,16 0

ENST00000342056|ENST00000451840|ENST00000355194|ENST00000370398|ENST00000402622|ENST00000355635|ENST00000403813|ENST00000414165 B|B|B|B|B 0,23 0

ENST00000369303|ENST00000369297 D|B|B|B 0,21 0

Page 28

KMH2

ENST00000544166 B NA 0

ENST00000317357 NA 1,00 0

ENST00000317357|ENST00000230065 D 0,05 0

NA NA NA 1

ENST00000424296|ENST00000368948|ENST00000285397|ENST00000448084|ENST00000532976 NA NA 0

ENST00000230538|ENST00000522006|ENST00000389463|ENST00000424408 D|D 0,14 0

ENST00000452085|ENST00000537543|ENST00000331677|ENST00000359564 NA 0,01 0

ENST00000338891|ENST00000352896|ENST00000368475|ENST00000521531|ENST00000522284 B|B|B 0,11 0

ENST00000358023|ENST00000354729|ENST00000421865|ENST00000443169 B|B 0,18 0

ENST00000368087|ENST00000356962|ENST00000476845 B|B 0,07 0

ENST00000275198|ENST00000539228 B 1,00 0

ENST00000258042 B 0,12 0

ENST00000361719|ENST00000392299|ENST00000492807|ENST00000282753|ENST00000355289|ENST00000507907 D|D|D 0,00 0

ENST00000367255|ENST00000423061|ENST00000265368|ENST00000448038|ENST00000341594 B|B|B|B 0,17 0

ENST00000367255|ENST00000423061|ENST00000265368|ENST00000448038|ENST00000341594|ENST00000367253|ENST00000367248|ENST00000413186|ENST00000495090D|D|D|D|D|D|D 0,08 0

ENST00000367178|ENST00000417268|ENST00000367186 B|B|B|B 0,27 0

ENST00000366882|ENST00000539869|ENST00000343842|ENST00000354448|ENST00000392126 D|P 0,00 0

ENST00000258711|ENST00000432336 D 0,06 0

ENST00000396946 P 0,23 0

NA NA NA 0

ENST00000399537|ENST00000430969|ENST00000413081 B 0,27 0

ENST00000262042|ENST00000423059 P 0,87 0

ENST00000297029|ENST00000417018 B 0,01 0

ENST00000328843 P 0,00 0

ENST00000355870|ENST00000433467|ENST00000354639|ENST00000428484 NA 1,00 0

NA NA NA 0

ENST00000435803 D|D 0,00 0

ENST00000395504|ENST00000275493|ENST00000454757 P 0,00 0

ENST00000427986|ENST00000422959|ENST00000307305|ENST00000424760|ENST00000415251|ENST00000275575|ENST00000450574|ENST00000416283|ENST00000248550D|D|D|P|D|D|D|D|P 0,70 0

ENST00000333891|ENST00000423517|ENST00000437081 D|D|D 0,00 0

ENST00000431819|ENST00000333891|ENST00000423517 P|P 0,00 0

ENST00000005260 NA NA 0

ENST00000319509 B 1,00 0

ENST00000422236|ENST00000340010 NA NA 1

ENST00000249356 B NA 0

ENST00000406875|ENST00000428878|ENST00000342645 D|D 0,01 0

ENST00000461373|ENST00000358849|ENST00000360651|ENST00000297504|ENST00000498578|ENST00000356058|ENST00000477719|ENST00000477092 P|P|P|P|P 0,06 1

ENST00000463381|ENST00000473312|ENST00000397238|ENST00000335355|ENST00000335367|ENST00000468796 D|D|D|D 0,00 0

ENST00000356067|ENST00000421627 B|B 0,05 0

ENST00000262113 D 0,00 1

NA NA NA 1

ENST00000318063,ENST00000517398 P 0,08 1

ENST00000523944|ENST00000262105|ENST00000396826|ENST00000429229|ENST00000520637 D|D 0,00 1

ENST00000025008|ENST00000435644|ENST00000539297 B|B 0,83 0

Page 29

KMH2

ENST00000276585|ENST00000521605 P 0,63 0

ENST00000220597 D 0,00 1

ENST00000426019|ENST00000360375|ENST00000414626 P|D|P 0,38 1

NA NA NA 0

ENST00000343508|ENST00000297405|ENST00000339701|ENST00000455883|ENST00000352409 D|D|D 0,01 0

ENST00000522917|ENST00000399018 D 0,00 1

ENST00000520356|ENST00000520727|ENST00000429442|ENST00000377838|ENST00000520214|ENST00000318135|ENST00000523399|ENST00000398946 D|D|D|D 0,00 0

ENST00000526926|ENST00000328466|ENST00000458270|ENST00000532796|ENST00000501748 P 0,00 0

ENST00000345136|ENST00000357649|ENST00000354589|ENST00000398774|ENST00000322810|ENST00000354958|ENST00000356346|ENST00000436759|ENST00000527096|ENST00000528025B|B|B|B|B|B|B|B 0,09 1

ENST00000528431|ENST00000394955 B 0,42 1

NA NA NA 0

ENST00000321612 B 0,56 0

ENST00000412335|ENST00000543880|ENST00000418122 NA NA 0

ENST00000418122 NA NA 0

ENST00000242310 B 0,03 0

NA NA NA 0

ENST00000423537|ENST00000377984 P 0,83 0

NA NA NA 0

ENST00000376834 B 0,00 0

ENST00000496114,ENST00000376552|ENST00000376520|ENST00000376537|ENST00000265284,ENST00000417836 B|D|D 0,02 0

ENST00000358157|ENST00000375846 P 0,15 0

ENST00000374647 D 0,04 0

ENST00000394831|ENST00000412145|ENST00000446349|ENST00000374541|ENST00000394827|ENST00000262539 P|P|P 0,00 0

ENST00000340094|ENST00000535648|ENST00000346706|ENST00000345230|ENST00000350763|ENST00000341037|ENST00000423613|ENST00000537320|ENST00000542877D|D 0,02 0

ENST00000373768 P 0,00 0

ENST00000361256|ENST00000372618 B|B 0,18 0

ENST00000540899 NA 0,06 0

ENST00000277541 NA 0,67 0

ENST00000343053 P 0,00 0

NA NA NA 0

ENST00000358621|ENST00000357447|ENST00000378503 P 0,03 0

ENST00000377122 B 0,28 0

ENST00000376603|ENST00000435326 NA NA 0

ENST00000358107 NA 1,00 0

ENST00000375318 B 0,54 0

ENST00000487763|ENST00000473940|ENST00000488328|ENST00000356917 B|B|B|B 1,00 0

ENST00000323868|ENST00000374144 P 0,09 0

ENST00000373783 P 0,13 0

ENST00000373585 P 0,13 0

ENST00000334549 B 0,42 0

ENST00000369005|ENST00000515273|ENST00000515603|ENST00000334433|ENST00000453444|ENST00000340076 B|B|B 0,04 0

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ENST00000368654|ENST00000537609 P NA 0

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ENST00000348956|ENST00000428256|ENST00000553878 B 0,73 1

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ENST00000380173|ENST00000339694|ENST00000380183 D|D|D|D 0,01 1

ENST00000330255 D|D 0,00 0

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ENST00000323019|ENST00000395706,ENST00000395704 B 0.10; 0.00 0

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ENST00000225737 B 0,51 0

NA NA NA 0

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KMH2

ENST00000397274 P|P|D 0,05 0

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KMH2

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