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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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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
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Genes at Omim

HMGA1, INF2, PLCZ1, PRKCSH, SMPD1,
HMGA1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
INF2 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (3)
PLCZ1 ?Spermatogenic failure 17, 617214 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
SMPD1 Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)

Genes at Clinical Genomics Database

INF2, PRKCSH, SMPD1,
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
PRKCSH Polycystic liver disease
SMPD1 Niemann-Pick disease, type A
Niemann-Pick disease, type B

Genes at HGMD

Summary

Number of Variants: 449
Number of Genes: 11

Export to: CSV

ADAMTS8

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_56.variant19 11 rs10548872
dbSNP Clinvar
130298117 1186.28 GGCA GG... PASS 2/2 56 CODON_INSERTION MODERATE None 0.07728 0.47700 0.51250 None None None None None None ADAMTS8|0.042125202|65.07%

DUX4L5

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_56.variant19 4 . 190999075 55.75 C G,T PASS 2/2 2 STOP_GAINED HIGH None None None None None None None DUX4L5|0.001502836|92.77%

FMNL2

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_56.variant19 2 rs5835439
dbSNP Clinvar
153476066 826.25 G C,... PASS 2/2 10 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99800 0.99800 None None None None None None FMNL2|0.571016453|12.93%

HMGA1

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_56.variant19 6 rs2780219
dbSNP Clinvar
34212743 1874.47 A C,G PASS 2/2 73 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.07 0.00 None None None None None None HMGA1|0.240174971|32.42%

INF2

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_56.variant19 14 rs1128840
dbSNP Clinvar
105180706 6636.59 A C,G PASS 2/2 290 SYNONYMOUS_CODING LOW None 0.20967 0.69490 0.35022 None None None None None None INF2|0.011319835|79.76%

NOP9

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_56.variant19 14 rs113258190
dbSNP Clinvar
24769849 2155.73 A AG... PASS 2/2 71 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None NOP9|0.084378166|54.34%

PCSK5

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_56.variant19 9 rs781082708,rs4281168
dbSNP Clinvar
78790153 1910.51 A G,... PASS 2/2 43 None None None 0.88978 0.88980 None None None None None None PCSK5|0.396702016|20.98%
View combined sample_56.variant19 9 rs796174415
dbSNP Clinvar
78790207 2525.38 CG... CG... PASS 2/2 106 None None None None None None None None None PCSK5|0.396702016|20.98%

PKD1L2

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_56.variant19 16 rs1453325
dbSNP Clinvar
81190601 3449.81 T A,C PASS 2/2 169 NON_SYNONYMOUS_CODING MODERATE None 0.00998 0.00998 0.02316 0.00 0.89 None None None None None None PKD1L2|0.005531409|85.17%

PLCZ1

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_56.variant19 12 rs767045590
dbSNP Clinvar
18854540 2303.04 AT... AT... PASS 2/2 84 None None None None None None None None None PLCZ1|0.037940053|66.47%

PRKCSH

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_56.variant19 19 rs71166603
dbSNP Clinvar
11558340 1902.38 AG... A,... PASS 2/2 108 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None PRKCSH|0.082465223|54.69%

SMPD1

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_56.variant19 11 rs3838786,rs558809956
dbSNP Clinvar
6411935 8110.44 TG... T,... PASS 2/2 199 NON_SYNONYMOUS_CODING MODERATE None None None None None None None SMPD1|0.395074723|21.07%
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_56.variant19 1 . 162768784 81.82 CAAA CA... PASS 2/2 16 None None None None None None None None None HSD17B7|0.023533529|72.41%
View combined sample_56.variant19 1 rs66800417,rs879046695,rs58727696
dbSNP Clinvar
165378729 228.31 TACAC TAC,T PASS 2/2 44 None None None None None None None None None RXRG|0.195811421|37.18%
View combined sample_56.variant19 2 . 37447471 268.83 AA... AAT,A PASS 2/2 3 None None None None None None None None None CEBPZ|0.235504478|32.84%
View combined sample_56.variant19 2 rs80309223,rs398090387
dbSNP Clinvar
70437241 2388.29 TA TAA,T PASS 2/2 178 None None None 0.08027 0.08027 None None None None None None C2orf42|0.286589289|28.59%,TIA1|0.886431556|3.8%
View combined sample_56.variant19 2 rs763791656
dbSNP Clinvar
211036019 794.42 GG... GG... PASS 2/2 13 None None None None None None None None None KANSL1L|0.271793554|29.78%
View combined sample_56.variant19 2 rs35745624,rs78477398
dbSNP Clinvar
141598473 2685.77 A T,AT PASS 2/2 74 None None None 0.00120 0.00120 0.02189 None None None None None None LRP1B|0.97329857|1.62%
View combined sample_56.variant19 2 rs5834931,rs3069632
dbSNP Clinvar
143718459 485.54 T TA... PASS 2/2 28 None None None 0.18890 0.42450 None None None None None None KYNU|0.158092814|41.86%
View combined sample_56.variant19 2 rs5834993
dbSNP Clinvar
144934819 465.84 T TA... PASS 2/2 56 None None None 0.60683 None None None None None None GTDC1|0.922516559|2.92%
View combined sample_56.variant19 2 . 198540312 1078.21 CA CA... PASS 2/2 18 None None None None None None None None None RFTN2|0.038537985|66.28%
View combined sample_56.variant19 2 rs553027002,rs532523591,rs56400417
dbSNP Clinvar
219270736 138.02 GCCC GC,G PASS 2/2 12 None None None 1.00000 1.00000 None None None None None None None
View combined sample_56.variant19 2 rs59713184
dbSNP Clinvar
219616633 496.25 C CT,T PASS 2/2 22 None None None None None None None None None TTLL4|0.074949486|56.31%
View combined sample_56.variant19 2 rs113517613
dbSNP Clinvar
239229029 179.87 C G,A PASS 2/2 27 None None None 0.04633 0.13160 None None None None None None None
View combined sample_56.variant19 3 rs113831361
dbSNP Clinvar
9896822 854.22 GA G,GAA PASS 2/2 48 None None None None None None None None None TTLL3|0.034571307|67.6%
View combined sample_56.variant19 3 rs758502481
dbSNP Clinvar
10005140 115.32 T TA... PASS 2/2 15 None None None None None None None None None EMC3|0.367251837|22.95%
View combined sample_56.variant19 3 rs56412101,rs771354922,rs398062255
dbSNP Clinvar
38397741 86.54 CAAA CA... PASS 2/2 25 None None None None None None None None None XYLB|0.051125156|62.31%
View combined sample_56.variant19 3 rs112524625,rs63694161,rs72579928
dbSNP Clinvar
38627658 129.89 T TC... PASS 2/2 13 None None None 0.24121 0.28490 None None None None None None SCN5A|0.505326843|15.55%
View combined sample_56.variant19 3 . 49292991 51.55 CTTTT CT... PASS 2/2 13 None None None None None None None None None CCDC36|0.007535564|83.03%
View combined sample_56.variant19 3 rs762340731
dbSNP Clinvar
73025077 273.33 CTTTT CT... PASS 2/2 24 None None None None None None None None None GXYLT2|0.227761838|33.54%
View combined sample_56.variant19 3 rs144735433,rs386356241
dbSNP Clinvar
114619353 142.65 A AA... PASS 2/2 2 None None None None None None None None None ZBTB20|0.999874095|0.19%
View combined sample_56.variant19 3 rs201120646,rs763342139
dbSNP Clinvar
116746457 2050.69 GTTA GT... PASS 2/2 40 None None None 0.00240 0.35840 None None None None None None LSAMP|0.999921905|0.17%
View combined sample_56.variant19 3 . 154890512 244.47 CT CT... PASS 2/2 24 None None None None None None None None None MME|0.543919168|14.04%
View combined sample_56.variant19 3 rs146160361,rs869249152
dbSNP Clinvar
158537415 1163.94 CT... C,... PASS 2/2 27 None None None None None None None None None MFSD1|0.104583457|50.31%
View combined sample_56.variant19 3 rs57458521,rs7618477
dbSNP Clinvar
193090101 1175.38 A G,... PASS 2/2 22 None None None None None None None None None ATP13A5|0.051025682|62.36%
View combined sample_56.variant19 3 rs200499336
dbSNP Clinvar
193130295 53.09 AA... AA... PASS 2/2 9 None None None None None None None None None ATP13A4|0.189604914|37.86%
View combined sample_56.variant19 4 rs546709908,rs752755165,rs531853401
dbSNP Clinvar
39321969 326.28 CAAA C,CA PASS 2/2 8 None None None 0.93231 0.93230 None None None None None None RFC1|0.459631964|17.7%
View combined sample_56.variant19 4 . 73933671 2613.21 AT... AT... PASS 2/2 67 None None None None None None None None None COX18|0.044414214|64.37%
View combined sample_56.variant19 4 rs753153960
dbSNP Clinvar
81978361 1591.06 AA... A,AAT PASS 2/2 60 None None None None None None None None None BMP3|0.245532193|31.98%
View combined sample_56.variant19 4 . 86491517 367.95 CT... CT... PASS 2/2 8 None None None None None None None None None ARHGAP24|0.256470392|31.01%
View combined sample_56.variant19 4 rs35239689,rs60181711
dbSNP Clinvar
88585217 3555.99 ATT A,AT PASS 2/2 233 None None None 0.34864 0.34860 None None None None None None DMP1|0.009519189|81.24%
View combined sample_56.variant19 4 rs796461957
dbSNP Clinvar
121631375 38.4 GAC G,... PASS 2/2 44 None None None None None None None None None PRDM5|0.189342478|37.9%
View combined sample_56.variant19 5 rs548597950
dbSNP Clinvar
4702352 269.26 T TG... PASS 2/2 23 None None None None None None None None None None
View combined sample_56.variant19 5 . 50690278 1218.31 GA GA... PASS 2/2 146 None None None None None None None None None ISL1|0.998713077|0.45%
View combined sample_56.variant19 5 rs746900252
dbSNP Clinvar
43122348 43.09 CTTT CT... PASS 2/2 4 None None None None None None None None None ZNF131|0.298427161|27.76%
View combined sample_56.variant19 5 . 43175821 577.93 TA T,... PASS 2/2 124 None None None None None None None None None ZNF131|0.298427161|27.76%
View combined sample_56.variant19 5 rs747797340
dbSNP Clinvar
43454310 158.42 ATTTT AT... PASS 2/2 6 None None None None None None None None None C5orf28|0.133932661|45.3%
View combined sample_56.variant19 5 rs141222541
dbSNP Clinvar
52251176 4339.05 CA... C,... PASS 2/2 62 None None None 0.40635 0.40630 None None None None None None ITGA1|0.38715487|21.59%
View combined sample_56.variant19 5 rs72051298,rs570189255
dbSNP Clinvar
153369624 646.68 TC... TC... PASS 2/2 46 None None None None None None None None None None
View combined sample_56.variant19 5 rs745428444,rs144701880
dbSNP Clinvar
156469452 171.9 CAAA C,... PASS 2/2 5 None None None None None None None None None HAVCR1|0.00064813|97.55%
View combined sample_56.variant19 5 rs759166186
dbSNP Clinvar
157094771 980.67 TACAC T,TAC PASS 2/2 29 None None None None None None None None None SOX30|0.134534403|45.17%
View combined sample_56.variant19 6 rs199798515
dbSNP Clinvar
13980432 142.31 TT... TT... PASS 2/2 3 None None None None None None None None None RNF182|0.077488399|55.77%
View combined sample_56.variant19 6 rs199698020
dbSNP Clinvar
21597753 464.9 CT... C,... PASS 2/2 26 None None None None None None None None None SOX4|0.342126623|24.67%
View combined sample_56.variant19 6 rs141284004,rs36177729,rs56304833
dbSNP Clinvar
63922929 51.5 A AA... PASS 2/2 3 None None None 0.96266 0.96270 None None None None None None FKBP1C|0.018544536|74.95%
View combined sample_56.variant19 6 rs374955689
dbSNP Clinvar
66005740 1329.82 GA G,GAA PASS 2/2 59 None None None None None None None None None EYS|0.327790298|25.63%
View combined sample_56.variant19 6 . 100005664 46.41 CAAA CA,C PASS 2/2 4 None None None None None None None None None CCNC|0.941035003|2.45%
View combined sample_56.variant19 6 . 100833545 3515.41 AT... A,... PASS 2/2 55 None None None None None None None None None SIM1|0.939430189|2.5%
View combined sample_56.variant19 6 rs796171233
dbSNP Clinvar
105300074 793.24 CTG CT... PASS 2/2 40 None None None None None None None None None HACE1|0.579561368|12.61%
View combined sample_56.variant19 6 rs559468619,rs61352735
dbSNP Clinvar
134536272 1862.04 C T,... PASS 2/2 84 None None None 0.18490 0.67190 None None None None None None SGK1|0.894668453|3.54%
View combined sample_56.variant19 6 . 134581804 1610.5 CAA C,CA PASS 2/2 62 None None None None None None None None None SGK1|0.894668453|3.54%
View combined sample_56.variant19 6 rs537998104
dbSNP Clinvar
138744952 46.05 CA... CA... PASS 2/2 6 None None None None None None None None None NHSL1|0.130769163|45.78%
View combined sample_56.variant19 7 rs35458825,rs10624330,rs200378658
dbSNP Clinvar
27166574 6672.53 A AT... PASS 2/2 145 None None None 0.86961 0.86960 None None None None None None HOXA3|0.96040856|1.95%
View combined sample_56.variant19 7 rs71818924,rs60093686
dbSNP Clinvar
75419315 301.59 TCTCC TC... PASS 2/2 11 None None None 0.83906 0.83910 None None None None None None None
View combined sample_56.variant19 7 rs759064578
dbSNP Clinvar
99636938 326.29 GA... G,... PASS 2/2 15 None None None None None None None None None ZKSCAN1|0.096037093|51.93%
View combined sample_56.variant19 7 rs796247008,rs548078791
dbSNP Clinvar
120739962 2782.52 GTT G,GT PASS 2/2 80 None None None 0.61700 None None None None None None CPED1|0.185612719|38.28%
View combined sample_56.variant19 7 rs759351347
dbSNP Clinvar
144380278 74.44 CTT C,CT PASS 2/2 15 None None None None None None None None None TPK1|0.147921317|43.3%
View combined sample_56.variant19 8 rs796616994
dbSNP Clinvar
10622563 168.55 GAC G,... PASS 2/2 125 None None None None None None None None None SOX7|0.347029658|24.36%,PINX1|0.194708071|37.3%
View combined sample_56.variant19 8 . 27884279 223.64 TT... T,... PASS 2/2 6 None None None None None None None None None NUGGC|0.064981901|58.65%
View combined sample_56.variant19 8 rs142096249
dbSNP Clinvar
93328793 136.55 T G,A PASS 2/2 4 None None None None None None None None None None
View combined sample_56.variant19 8 rs67211071,rs572740320
dbSNP Clinvar
95840273 212.95 GTT GT,G PASS 2/2 3 None None None 0.55032 0.55030 None None None None None None INTS8|0.521775216|14.91%
View combined sample_56.variant19 9 rs200145454
dbSNP Clinvar
74828718 136.14 CA... CA... PASS 2/2 18 None None None 0.36382 0.36380 None None None None None None GDA|0.269959107|29.88%
View combined sample_56.variant19 9 . 117554504 1074.65 TA... TA... PASS 2/2 44 None None None None None None None None None TNFSF15|0.088374278|53.57%
View combined sample_56.variant19 9 . 136335311 1572.75 CT... CT... PASS 2/2 65 None None None None None None None None None CACFD1|0.051141294|62.3%
View combined sample_56.variant19 10 . 21812819 32.39 TAAA TA... PASS 2/2 2 None None None None None None None None None SKIDA1|0.439515262|18.69%
View combined sample_56.variant19 10 . 20506525 155.73 CT... C,... PASS 2/2 20 None None None None None None None None None PLXDC2|0.401730057|20.65%
View combined sample_56.variant19 10 rs61366126,rs398075124,rs397723327
dbSNP Clinvar
50190923 7757.06 G A,GA PASS 2/2 198 None None None 0.87021 0.87020 None None None None None None WDFY4|0.061116122|59.55%
View combined sample_56.variant19 10 rs796323012
dbSNP Clinvar
78730087 103.0 GAAAA G,... PASS 2/2 3 None None None 0.72284 0.72280 None None None None None None KCNMA1|0.993929534|0.89%
View combined sample_56.variant19 10 rs199643324,rs554877514,rs869160819
dbSNP Clinvar
124595874 2224.37 GAA G,GA PASS 2/2 126 None None None 0.16270 None None None None None None CUZD1|0.014333195|77.61%
View combined sample_56.variant19 11 rs35556457,rs774338148,rs74537032
dbSNP Clinvar
27412782 276.61 CTTT C,... PASS 2/2 25 None None None None None None None None None LGR4|0.274795395|29.54%
View combined sample_56.variant19 11 . 5655722 260.72 TA... TA... PASS 2/2 3 None None None None None None None None None HBG2|0.024133976|72.16%,TRIM6-TRIM34|0.003746095|87.35%,TRIM34|0.007077239|83.41%
View combined sample_56.variant19 11 rs10766477
dbSNP Clinvar
18434536 220.15 T TC,C PASS 2/2 16 None None None None None None None None None LDHC|0.041479586|65.31%
View combined sample_56.variant19 11 rs5794752,rs869113425,rs397713358
dbSNP Clinvar
111367617 6587.95 G GA... PASS 2/2 221 None None None 0.99820 0.99820 None None None None None None BTG4|0.055894031|60.93%
View combined sample_56.variant19 12 rs5796258,rs768487238,rs35906082
dbSNP Clinvar
7290391 799.76 T A,... PASS 2/2 13 None None None None None None None None None CLSTN3|0.12743225|46.28%
View combined sample_56.variant19 12 rs11446411,rs61319012
dbSNP Clinvar
40345185 580.49 G GA... PASS 2/2 7 None None None 0.02276 0.51140 None None None None None None SLC2A13|0.157441978|41.95%
View combined sample_56.variant19 12 . 117296379 147.52 TC... TC... PASS 2/2 14 None None None None None None None None None HRK|0.139245074|44.52%
View combined sample_56.variant19 13 rs10626538
dbSNP Clinvar
49854941 52.94 A AA... PASS 2/2 2 None None None 0.27217 0.27220 None None None None None None CDADC1|0.301878995|27.51%
View combined sample_56.variant19 13 rs3039280,rs386379143,rs386379144,rs397807681
dbSNP Clinvar
50121311 1903.47 C CA... PASS 2/2 69 None None None 0.61482 0.61480 None None None None None None RCBTB1|0.271975199|29.74%
View combined sample_56.variant19 13 rs9550063
dbSNP Clinvar
113032962 1214.79 G A,C PASS 2/2 103 None None None 0.01637 0.01637 None None None None None None SPACA7|0.000422564|98.83%
View combined sample_56.variant19 13 rs757286592,rs56024277
dbSNP Clinvar
113622456 264.11 T TG... PASS 2/2 12 None None None None None None None None None MCF2L|0.031326843|68.87%
View combined sample_56.variant19 13 rs150762485,rs45606038,rs57038702,rs397717032
dbSNP Clinvar
113818817 2901.35 T C,TC PASS 2/2 134 None None None 0.00819 0.66710 None None None None None None PROZ|0.002511319|89.67%
View combined sample_56.variant19 14 rs762552348
dbSNP Clinvar
24782787 123.12 CT... C,... PASS 2/2 7 None None None None None None None None None LTB4R|0.031854015|68.67%
View combined sample_56.variant19 14 rs369702496
dbSNP Clinvar
32142544 45.72 AT A,ATT PASS 2/2 3 None None None 0.46560 None None None None None None NUBPL|0.359363492|23.47%
View combined sample_56.variant19 14 rs543527890,rs201803767
dbSNP Clinvar
34270939 670.92 TA T,TAA PASS 2/2 45 None None None 0.07808 0.07808 None None None None None None NPAS3|0.999985495|0.09%
View combined sample_56.variant19 14 rs757918841
dbSNP Clinvar
62211578 62.84 CG... CG... PASS 2/2 4 None None None None None None None None None HIF1A|0.997457006|0.62%
View combined sample_56.variant19 14 . 75506549 167.64 CA... CA... PASS 2/2 9 None None None None None None None None None MLH3|0.168045017|40.57%
View combined sample_56.variant19 14 rs61979250,rs398025758
dbSNP Clinvar
76668905 4138.13 C G,CAG PASS 2/2 70 None None None 0.73103 0.73100 None None None None None None GPATCH2L|0.283468162|28.84%
View combined sample_56.variant19 14 rs751970974
dbSNP Clinvar
77880524 483.34 CTTT C,... PASS 2/2 20 None None None None None None None None None NOXRED1|0.009676263|81.08%
View combined sample_56.variant19 15 rs140570640,rs113062201
dbSNP Clinvar
35083508 756.12 TC... TC... PASS 2/2 33 None None None None None None None None None ACTC1|0.66284814|9.59%
View combined sample_56.variant19 15 rs768750416,rs55800536
dbSNP Clinvar
45361046 143.24 ATTTT AT... PASS 2/2 9 None None None None None None None None None SORD|0.113530567|48.57%
View combined sample_56.variant19 15 . 64447709 88.53 CA... CA... PASS 2/2 5 None None None None None None None None None SNX22|0.06222831|59.26%