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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

ATN1, ATXN1, LTBP3, TRAK1,
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
LTBP3 Dental anomalies and short stature, 601216 (3)
Geleophysic dysplasia 3, 617809 (3)
TRAK1 Epileptic encephalopathy, early infantile, 68, 618201 (3)

Genes at Clinical Genomics Database

ATN1, ATXN1, LTBP3,
ATN1 Dentatorubro-pallidoluysian atrophy
ATXN1 Spinocerebellar ataxia 1
LTBP3 Dental anomalies and short stature

Genes at HGMD

Summary

Number of Variants: 512
Number of Genes: 14

Export to: CSV

AC008686.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 19 rs780460521
dbSNP Clinvar
13899041 248.32 CT... CT... PASS 0/3 23 FRAME_SHIFT HIGH None None None None None None None None

ATN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 12 . 7045891 3369.13 AC... AC... PASS 0/3 122 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATN1|0.702926343|8.41%

ATXN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 6 rs797045409
dbSNP Clinvar
16327915 1808.1 ATGC AT... PASS 0/3 69 CODON_INSERTION MODERATE None None None None None None None ATXN1|0.832563526|5.05%

CDC27

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 17 . 45221346 4433.37 G GC... PASS 0/3 213 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None CDC27|0.658499283|9.78%

CNOT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 12 . 70747693 54.9 TA... TA... PASS 0/3 13 None None None None None None None None None CNOT2|0.864864784|4.39%

LTBP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 11 rs761360910
dbSNP Clinvar
65325325 143.07 CCAG C,... PASS 0/3 47 CODON_INSERTION MODERATE None 0.26129 None None None None None None LTBP3|0.150450065|42.94%

MDK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 11 rs760818036
dbSNP Clinvar
46404340 1700.36 GCCC GC... PASS 0/3 107 FRAME_SHIFT HIGH None None None None None None None MDK|0.315014935|26.43%

MUC4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 3 . 195513398 11904.8 C CG... PASS 0/3 546 CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%

MUC6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 11 rs76461263
dbSNP Clinvar
1016978 2216.51 T C,A,G PASS 0/3 1129 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.20 0.00 None None None None None None MUC6|0.00166044|92.04%

PSMG4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 6 rs754754047
dbSNP Clinvar
3290215 150.13 CTTT CT... PASS 0/3 33 None None None None None None None None None PSMG4|0.027056167|70.84%,SLC22A23|0.102232564|50.77%

RBM6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 3 rs751626525
dbSNP Clinvar
50098993 419.42 CTTTT CT... PASS 0/3 45 None None None None None None None None None RBM6|0.375632091|22.35%

TDG

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 12 rs764159587
dbSNP Clinvar
104378698 88.39 G GA... PASS 0/3 145 None None None None None None None None None TDG|0.358733871|23.52%

TIMM44

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 19 rs753419157
dbSNP Clinvar
8000052 291.81 CTT CT... PASS 0/3 90 None None None None None None None None None TIMM44|0.163638215|41.07%

TRAK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 3 rs753440774
dbSNP Clinvar
42251577 605.99 CGGA CG... PASS 0/3 110 None None None None None None None None None TRAK1|0.190086585|37.8%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_48.variant12 2 rs146650342
dbSNP Clinvar
20836788 796.46 G GG... PASS 0/3 27 None None None None None None None None None HS1BP3|0.009037808|81.62%
View combined sample_48.variant12 1 rs879230025
dbSNP Clinvar
231161817 36.59 TA TA... PASS 0/3 17 None None None None None None None None None FAM89A|0.016091293|76.43%
View combined sample_48.variant12 1 rs765139420
dbSNP Clinvar
217603167 228.73 CA... CA... PASS 0/3 30 None None None None None None None None None GPATCH2|0.28849799|28.48%
View combined sample_48.variant12 1 . 237794913 486.27 AT... AT... PASS 0/3 6 None None None None None None None None None RYR2|0.544008282|14.03%
View combined sample_48.variant12 2 rs760800444
dbSNP Clinvar
25061810 471.61 ATT AT... PASS 0/3 22 None None None None None None None None None ADCY3|0.184618724|38.39%
View combined sample_48.variant12 2 . 43817783 35.67 CAAA C,... PASS 0/3 4 None None None None None None None None None THADA|0.225784314|33.79%
View combined sample_48.variant12 2 . 96049917 411.61 TACAC TA... PASS 0/3 17 None None None None None None None None None KCNIP3|0.160681289|41.44%
View combined sample_48.variant12 2 . 88328163 159.35 CT C,... PASS 0/3 25 None None None None None None None None None KRCC1|0.059327134|60.08%
View combined sample_48.variant12 2 . 109004251 119.25 ATT AT... PASS 0/3 18 None None None None None None None None None SULT1C4|0.013862627|77.97%
View combined sample_48.variant12 2 rs71403288,rs200054956
dbSNP Clinvar
192225477 453.18 G GT... PASS 0/3 20 None None None None None None None None None MYO1B|0.346998521|24.36%
View combined sample_48.variant12 2 rs758436981
dbSNP Clinvar
192818609 150.31 AT... A,... PASS 0/3 6 None None None None None None None None None TMEFF2|0.80996566|5.56%
View combined sample_48.variant12 2 . 199011927 1881.57 AGT AG... PASS 0/3 38 None None None None None None None None None PLCL1|0.302015105|27.49%
View combined sample_48.variant12 2 rs761174657
dbSNP Clinvar
201280996 126.75 CAA CA... PASS 0/3 22 None None None None None None None None None SPATS2L|0.27212886|29.72%
View combined sample_48.variant12 2 rs57205763,rs550377398,rs869035962
dbSNP Clinvar
201470233 448.88 ATTTT AT... PASS 0/3 11 None None None 0.37080 None None None None None None AOX1|0.048138399|63.27%
View combined sample_48.variant12 2 rs879206278,rs745627681
dbSNP Clinvar
219447916 61.95 TT... TT... PASS 0/3 12 None None None None None None None None None RQCD1|0.61394631|11.33%
View combined sample_48.variant12 3 rs774559721
dbSNP Clinvar
40503864 754.5 CTTT CT... PASS 0/3 43 None None None None None None None None None None
View combined sample_48.variant12 3 . 41960087 103.22 CT... CT... PASS 0/3 6 None None None 0.30378 None None None None None None ULK4|0.102483555|50.69%
View combined sample_48.variant12 3 rs3076826
dbSNP Clinvar
42799554 319.26 TA... TA... PASS 0/3 36 None None None None None None None None None CCDC13|0.02751687|70.65%,HIGD1A|0.115082095|48.3%
View combined sample_48.variant12 3 rs748507581
dbSNP Clinvar
122078677 402.93 TA... TA... PASS 0/3 18 None None None None None None None None None CCDC58|0.598609006|11.8%
View combined sample_48.variant12 3 . 153842161 361.05 CTT CT... PASS 0/3 26 None None None None None None None None None ARHGEF26|0.061409989|59.47%
View combined sample_48.variant12 4 . 2159449 111.1 CA... CA... PASS 0/3 5 None None None None None None None None None POLN|0.02012469|74.11%
View combined sample_48.variant12 4 rs111780747,rs3043434
dbSNP Clinvar
39034119 1317.88 T TA... PASS 0/3 51 None None None 0.54413 0.54410 None None None None None None TMEM156|0.013336926|78.29%
View combined sample_48.variant12 4 rs200660972
dbSNP Clinvar
39501722 418.18 CAAAA CA... PASS 0/3 26 None None None None None None None None None UGDH|0.555641398|13.5%
View combined sample_48.variant12 4 . 73984597 66.08 CTTTT CT... PASS 0/3 27 None None None None None None None None None ANKRD17|0.584903468|12.36%
View combined sample_48.variant12 4 . 74274864 104.69 GCACA GC... PASS 0/3 11 None None None None None None None None None ALB|0.999994036|0.04%
View combined sample_48.variant12 4 rs773358912
dbSNP Clinvar
74364992 211.83 CTTT CT... PASS 0/3 31 None None None None None None None None None AFM|0.006233548|84.36%
View combined sample_48.variant12 4 rs71596388,rs10676315,rs57424390
dbSNP Clinvar
103941410 1884.52 G GT... PASS 0/3 80 None None None 0.28934 0.28930 None None None None None None SLC9B2|0.023717842|72.32%
View combined sample_48.variant12 4 . 106767825 104.64 CTT CT... PASS 0/3 26 None None None None None None None None None INTS12|0.42202568|19.51%,GSTCD|0.054548598|61.32%
View combined sample_48.variant12 4 rs754007285
dbSNP Clinvar
110569880 528.08 CAAAA CA... PASS 0/3 18 None None None None None None None None None CCDC109B|0.014014782|77.87%
View combined sample_48.variant12 5 . 106715248 322.71 CAA CA... PASS 0/3 49 None None None None None None None None None EFNA5|0.996767944|0.7%
View combined sample_48.variant12 5 . 184106 64.43 CGATA C,... PASS 0/3 15 None None None None None None None None None None
View combined sample_48.variant12 5 rs796952963
dbSNP Clinvar
31326787 1039.07 AAT A,... PASS 0/3 40 None None None None None None None None None CDH6|0.802178804|5.78%
View combined sample_48.variant12 5 rs779513492
dbSNP Clinvar
75967514 286.45 GAAA GA... PASS 0/3 17 None None None None None None None None None IQGAP2|0.062153927|59.28%
View combined sample_48.variant12 5 rs774670771
dbSNP Clinvar
115168268 229.61 CT... CT... PASS 0/3 46 None None None None None None None None None ATG12|0.05925466|60.09%
View combined sample_48.variant12 5 rs10591869
dbSNP Clinvar
146258290 587.85 AGCT AG... PASS 0/3 24 None None None None None None None None None PPP2R2B|0.952734839|2.17%
View combined sample_48.variant12 5 . 175805895 482.2 CAA CA... PASS 0/3 21 None None None None None None None None None ARL10|0.060845523|59.64%
View combined sample_48.variant12 5 rs576733198
dbSNP Clinvar
169809944 563.12 CA... C,... PASS 0/3 14 None None None 0.00120 0.02796 None None None None None None KCNIP1|0.505334604|15.55%,KCNMB1|0.076024429|56.08%
View combined sample_48.variant12 5 rs111773832,rs68060196
dbSNP Clinvar
172261583 66.23 GC GC... PASS 0/3 27 None None None 0.94030 0.94030 None None None None None None ERGIC1|0.105920796|50.02%
View combined sample_48.variant12 5 rs879130412
dbSNP Clinvar
173383606 95.11 CT C,... PASS 0/3 79 None None None None None None None None None CPEB4|0.605253311|11.63%
View combined sample_48.variant12 6 . 2970958 80.08 CAA CA... PASS 0/3 17 None None None None None None None None None SERPINB6|0.030895679|69%
View combined sample_48.variant12 6 . 2889932 51.77 GAA GA... PASS 0/3 11 None None None None None None None None None SERPINB9|0.00333374|88.04%
View combined sample_48.variant12 6 . 7249295 269.16 TG... TG... PASS 0/3 9 None None None None None None None None None RREB1|0.126211873|46.42%
View combined sample_48.variant12 6 rs778465409
dbSNP Clinvar
31322214 56.8 CA... CC... PASS 0/3 24 None None None 0.07159 None None None None None None HLA-B|0.04113834|65.4%
View combined sample_48.variant12 6 rs111351256
dbSNP Clinvar
38939248 66.69 AT AT... PASS 0/3 12 None None None None None None None None None DNAH8|0.998961058|0.42%
View combined sample_48.variant12 6 rs147180551
dbSNP Clinvar
41740483 113.79 CG... CG... PASS 0/3 14 None None None None None None None None None FRS3|0.212100128|35.33%
View combined sample_48.variant12 6 . 42018118 103.63 CAAA CA... PASS 0/3 15 None None None None None None None None None None
View combined sample_48.variant12 6 . 116782955 686.98 TA TA... PASS 0/3 24 None None None None None None None None None FAM26F|0.002519689|89.62%
View combined sample_48.variant12 6 rs3839419
dbSNP Clinvar
152539572 786.06 TAA TA... PASS 0/3 23 None None None None None None None None None SYNE1|0.298400892|27.77%
View combined sample_48.variant12 7 . 39125699 802.26 A AC... PASS 0/3 81 None None None None None None None None None POU6F2|0.980791853|1.44%
View combined sample_48.variant12 7 . 43847099 33.4 CTT CT... PASS 0/3 5 None None None None None None None None None None
View combined sample_48.variant12 7 rs141286287
dbSNP Clinvar
63033167 532.43 TG... TG... PASS 0/3 43 None None None None None None None None None None
View combined sample_48.variant12 7 rs796445092
dbSNP Clinvar
141374030 215.23 AAC AA... PASS 0/3 10 None None None None None None None None None KIAA1147|0.226564743|33.71%
View combined sample_48.variant12 7 rs796193299,rs35268349
dbSNP Clinvar
141765768 556.52 GT G,... PASS 0/3 14 None None None None None None None None None MGAM|0.010840797|80.22%
View combined sample_48.variant12 8 . 38988475 34.49 CT C,... PASS 0/3 7 None None None None None None None None None ADAM32|0.008880265|81.76%
View combined sample_48.variant12 8 rs879132776
dbSNP Clinvar
40011767 398.22 CTT CT... PASS 0/3 33 None None None None None None None None None C8orf4|0.263856916|30.39%
View combined sample_48.variant12 8 rs764536816
dbSNP Clinvar
40388026 49.77 AA... AA... PASS 0/3 8 None None None None None None None None None None
View combined sample_48.variant12 8 rs749391395
dbSNP Clinvar
42761230 650.2 CA... C,... PASS 0/3 31 None None None None None None None None None HOOK3|0.362513826|23.26%
View combined sample_48.variant12 8 rs769653138
dbSNP Clinvar
105264087 445.55 CA CA... PASS 0/3 40 None None None None None None None None None RIMS2|0.589624962|12.15%
View combined sample_48.variant12 9 rs201923199
dbSNP Clinvar
15183462 812.72 CAA C,... PASS 0/3 44 None None None None None None None None None TTC39B|0.159826211|41.57%
View combined sample_48.variant12 9 rs878885996
dbSNP Clinvar
71849286 78.77 TTTTC TT... PASS 0/3 19 None None None None None None None None None TJP2|0.24805836|31.7%
View combined sample_48.variant12 9 rs547644753
dbSNP Clinvar
109774386 2212.08 CT... C,... PASS 0/3 24 None None None 0.61621 0.61620 None None None None None None ZNF462|0.795334543|5.96%
View combined sample_48.variant12 10 . 11797322 1075.83 CAAAA CA... PASS 0/3 64 None None None None None None None None None ECHDC3|0.029496468|69.61%
View combined sample_48.variant12 10 . 12009545 40.48 GTTT GT... PASS 0/3 12 None None None None None None None None None UPF2|0.592170876|12.07%
View combined sample_48.variant12 10 rs77041585
dbSNP Clinvar
12875916 675.15 TAA TA... PASS 0/3 76 None None None None None None None None None CAMK1D|0.393461852|21.18%
View combined sample_48.variant12 10 . 63853410 373.88 CTTT CT... PASS 0/3 39 None None None None None None None None None ARID5B|0.90719341|3.3%
View combined sample_48.variant12 10 rs56147683
dbSNP Clinvar
75405936 378.71 GC... GC... PASS 0/3 10 None None None None None None None None None SYNPO2L|0.0660965|58.34%
View combined sample_48.variant12 10 . 90425494 153.43 AT... AT... PASS 0/3 9 None None None None None None None None None LIPF|0.008432404|82.22%
View combined sample_48.variant12 10 rs11345469
dbSNP Clinvar
134146818 224.5 CT C,... PASS 0/3 13 None None None 0.62899 0.62900 None None None None None None LRRC27|0.00038144|99.07%
View combined sample_48.variant12 11 . 3121248 487.7 CA CA... PASS 0/3 27 None None None None None None None None None OSBPL5|0.016850543|75.98%
View combined sample_48.variant12 11 rs775988989
dbSNP Clinvar
14535078 118.89 CAAAA CA... PASS 0/3 17 None None None None None None None None None PSMA1|0.576602072|12.74%
View combined sample_48.variant12 11 rs796644248,rs548971228
dbSNP Clinvar
47187071 1331.52 GAA GA... PASS 0/3 71 None None None 0.01498 None None None None None None ARFGAP2|0.358971982|23.5%
View combined sample_48.variant12 11 . 47251369 159.02 CTT CT... PASS 0/3 14 None None None None None None None None None DDB2|0.316525468|26.33%
View combined sample_48.variant12 11 rs768375619
dbSNP Clinvar
47727193 51.29 CA CA... PASS 0/3 12 None None None None None None None None None AGBL2|0.048331714|63.19%
View combined sample_48.variant12 11 rs61767069
dbSNP Clinvar
76735316 587.06 CA... C,... PASS 0/3 5 None None None None None None None None None ACER3|0.282744715|28.9%
View combined sample_48.variant12 11 rs112246665,rs386374734,rs386374735,rs374781756
dbSNP Clinvar
103780121 2661.36 C CA... PASS 0/3 161 None None None 0.09046 0.35720 None None None None None None PDGFD|0.366857768|22.97%
View combined sample_48.variant12 11 . 108061039 80.15 CA... CA... PASS 0/3 6 None None None None None None None None None NPAT|0.494424012|16.12%
View combined sample_48.variant12 12 . 18491597 188.12 CT... CT... PASS 0/3 6 None None None None None None None None None PIK3C2G|0.036855769|66.84%
View combined sample_48.variant12 12 rs878941631
dbSNP Clinvar
32797822 192.44 CA C,... PASS 0/3 321 None None None None None None None None None FGD4|0.105322897|50.19%
View combined sample_48.variant12 12 rs71434320,rs869222569
dbSNP Clinvar
40830599 417.2 CG... CG... PASS 0/3 19 None None None 0.69010 0.69010 None None None None None None MUC19|0.001564481|92.49%
View combined sample_48.variant12 12 . 54792619 58.7 CTTT CT... PASS 0/3 12 None None None None None None None None None ITGA5|0.422637925|19.47%
View combined sample_48.variant12 12 . 76441207 68.46 CTT CT... PASS 0/3 28 None None None None None None None None None NAP1L1|0.82796299|5.15%
View combined sample_48.variant12 12 rs66850526,rs398020188
dbSNP Clinvar
76749942 111.5 TG T,... PASS 0/3 5 None None None None None None None None None OSBPL8|0.604412233|11.66%
View combined sample_48.variant12 12 rs770751139
dbSNP Clinvar
104131384 752.53 CTTT C,... PASS 0/3 24 None None None None None None None None None STAB2|0.011236223|79.86%
View combined sample_48.variant12 12 rs758994050
dbSNP Clinvar
104179529 572.14 TA... TA... PASS 0/3 30 None None None None None None None None None NT5DC3|0.098618908|51.45%
View combined sample_48.variant12 12 . 105454605 129.74 GA... GA... PASS 0/3 16 None None None None None None None None None ALDH1L2|0.155583388|42.19%
View combined sample_48.variant12 12 . 123276749 144.06 GTT GT... PASS 0/3 32 None None None None None None None None None CCDC62|0.028902466|69.95%