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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

CASP12, CASR, SLC26A3,
CASP12 {Sepsis, susceptibility to} (3)
CASR {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
SLC26A3 Diarrhea 1, secretory chloride, congenital, 214700 (3)

Genes at Clinical Genomics Database

CASR, DYX1C1, SLC26A3,
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
DYX1C1 Ciliary dyskinesia, primary 25
SLC26A3 Diarrhea 1, secretory chloride, congenital

Genes at HGMD

Summary

Number of Variants: 51
Number of Genes: 49

Export to: CSV
  • Page 1 of 1

ARMS2

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 tsvc_variants_ionxpress_001-5225 10 rs2736911
dbSNP Clinvar
124214355 149.007 C T PASS 0/1 73 STOP_GAINED HIGH None 0.11442 0.11440 0.12546 None None None None None None ARMS2|0.000659964|97.48%

C2orf83

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 tsvc_variants_ionxpress_001-5225 2 rs2176186
dbSNP Clinvar
228476140 106.473 C T PASS 0/1 90 STOP_GAINED HIGH None 0.31390 0.31390 0.28079 None None None None None None C2orf83|0.001157033|94.67%

C5orf20

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 tsvc_variants_ionxpress_001-5225 5 rs12520799
dbSNP Clinvar
134782450 121.395 T A PASS 0/1 48 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

CASP12

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 tsvc_variants_ionxpress_001-5225 11 rs497116
dbSNP Clinvar
104763117 393.072 G A PASS 1/1 42 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CASR

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 tsvc_variants_ionxpress_001-5225 3 rs886041637
dbSNP Clinvar
122000981 48.2448 C T PASS 0/1 20 STOP_GAINED HIGH None None None None None None None CASR|0.90333935|3.37%

CCDC144NL

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 tsvc_variants_ionxpress_001-5225 17 rs79930314
dbSNP Clinvar
20769899 187.054 G T PASS 0/1 79 STOP_GAINED HIGH None None None None None None None CCDC144NL|0.000779475|96.79%

CCHCR1

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 tsvc_variants_ionxpress_001-5225 6 rs3130453
dbSNP Clinvar
31124849 353.74 C T PASS 1/1 39 STOP_GAINED HIGH None 0.46925 0.46920 0.48507 None None None None None None CCHCR1|0.032661886|68.3%

CLDN5

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 tsvc_variants_ionxpress_001-5225 22 rs885985
dbSNP Clinvar
19511925 1038.7 G A PASS 1/1 109 STOP_GAINED HIGH None 0.49681 0.49680 None None None None None None CLDN5|0.101200006|50.93%

DBI

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 2 rs3731608
dbSNP Clinvar
120125053 43.7076 C G PASS 0/1 32 STOP_GAINED HIGH None 0.16034 0.16030 None None None None None None DBI|0.035649756|67.26%

DYX1C1

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 tsvc_variants_ionxpress_001-5225 15 rs57809907
dbSNP Clinvar
55722882 202.561 C A PASS 0/1 58 STOP_GAINED HIGH None 0.17552 0.17550 0.19988 None None None None None None DYX1C1|0.073770721|56.56%

EML3

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 tsvc_variants_ionxpress_001-5225 11 rs35156678
dbSNP Clinvar
62369881 198.577 G A PASS 0/1 85 STOP_GAINED HIGH None 0.16554 0.16550 0.00153 None None None None None None EML3|0.147500051|43.38%

FAM187B

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 tsvc_variants_ionxpress_001-5225 19 rs541169
dbSNP Clinvar
35719020 819.025 C T PASS 1/1 92 STOP_GAINED HIGH None 0.31829 0.31830 0.32539 None None None None None None FAM187B|0.000243224|99.64%

GAB4

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 tsvc_variants_ionxpress_001-5225 22 rs28502153
dbSNP Clinvar
17469049 59.7512 C A PASS 0/1 47 STOP_GAINED HIGH None 0.35363 0.35360 0.33850 None None None None None None GAB4|0.003932508|87.14%

H2BFM

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 tsvc_variants_ionxpress_001-5225 X rs2301384
dbSNP Clinvar
103294760 272.668 C T PASS 1/1 30 STOP_GAINED HIGH None 0.30649 0.30650 0.31444 None None None None None None H2BFM|0.000467272|98.6%

HOXD12

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 tsvc_variants_ionxpress_001-5225 2 rs200302685
dbSNP Clinvar
176965465 312.782 G T PASS 0/1 136 STOP_GAINED HIGH None None None None None None None HOXD12|0.790605297|6.11%

LCN10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 9 rs9886752
dbSNP Clinvar
139634495 48.8501 G A PASS 0/1 28 STOP_GAINED HIGH None 0.19928 0.19930 0.16256 None None None None None None LCN10|0.001307936|93.85%

MAP2K3

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 tsvc_variants_ionxpress_001-5225 17 rs55796947
dbSNP Clinvar
21204210 180.232 C T PASS 0/1 93 STOP_GAINED HIGH None None None None None None None MAP2K3|0.4379498|18.79%

MOB3C

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 tsvc_variants_ionxpress_001-5225 1 rs6671527
dbSNP Clinvar
47080679 135.811 G A PASS 0/1 66 STOP_GAINED HIGH None 0.64217 0.64220 0.49877 None None None None None None MKNK1|0.390435521|21.38%,MOB3C|0.199575043|36.77%

NACA2

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 tsvc_variants_ionxpress_001-5225 17 rs17610181
dbSNP Clinvar
59667953 239.998 G A PASS 0/1 108 STOP_GAINED HIGH None 0.14796 0.14800 0.12133 None None None None None None NACA2|0.016130697|76.39%

NWD1

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 tsvc_variants_ionxpress_001-5225 19 rs113728633
dbSNP Clinvar
16855433 94.4312 G T PASS 0/1 41 STOP_GAINED HIGH None 0.02336 0.02336 None None None None None None NWD1|0.007412041|83.12%

OR10X1

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 tsvc_variants_ionxpress_001-5225 1 rs863362
dbSNP Clinvar
158549492 547.1 C T PASS 1/1 61 STOP_GAINED HIGH None 0.50240 0.50240 0.48631 None None None None None None OR10X1|0.012275665|79.05%

OR2L8

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 tsvc_variants_ionxpress_001-5225 1 rs10888281
dbSNP Clinvar
248113026 564.03 T A PASS 1/1 60 STOP_GAINED HIGH None 0.74581 0.74580 0.25235 None None None None None None OR2L13|0.004043561|86.95%,OR2L8|0.001567189|92.47%

OR4C11

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 tsvc_variants_ionxpress_001-5225 11 rs75423534
dbSNP Clinvar
55371381 244.406 G A PASS 0/1 110 STOP_GAINED HIGH None 0.06909 0.06909 0.09861 None None None None None None OR4C11|0.003674981|87.48%

OR4C3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 11 rs72473368
dbSNP Clinvar
48347014 216.204 G A PASS 0/1 176 STOP_GAINED HIGH None None None None None None None OR4C3|0.012915684|78.55%

OR4P4

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 tsvc_variants_ionxpress_001-5225 11 rs76160133
dbSNP Clinvar
55406022 97.9929 C G PASS 0/1 51 STOP_GAINED HIGH None 0.28514 0.28510 0.13421 None None None None None None OR4P4|0.003381547|87.96%

OR4X1

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 tsvc_variants_ionxpress_001-5225 11 rs10838851
dbSNP Clinvar
48286231 113.767 T A PASS 0/1 55 STOP_GAINED HIGH None 0.60423 0.60420 0.30936 None None None None None None OR4X1|0.01331956|78.29%

OR4X2

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 tsvc_variants_ionxpress_001-5225 11 rs7120775
dbSNP Clinvar
48266736 261.757 C G PASS 0/1 172 STOP_GAINED HIGH None 0.00280 0.17470 0.17849 None None None None None None OR4X2|0.0362389|67.03%

OR51I1

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 tsvc_variants_ionxpress_001-5225 11 rs16930998
dbSNP Clinvar
5462702 74.8409 G A PASS 0/1 72 STOP_GAINED HIGH None 0.12840 0.12840 0.01916 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I1|0.041373753|65.35%

OR5AR1

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 tsvc_variants_ionxpress_001-5225 11 rs11228710
dbSNP Clinvar
56431216 563.902 C T PASS 1/1 60 STOP_GAINED HIGH None 0.62300 0.62300 0.42966 None None None None None None OR5AR1|0.094213809|52.31%

OR6C74

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 tsvc_variants_ionxpress_001-5225 12 rs4522268
dbSNP Clinvar
55641255 39.1601 C T PASS 0/1 34 STOP_GAINED HIGH None 0.23562 0.23560 0.27195 None None None None None None OR6C74|0.008073423|82.57%

PDE4DIP

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 tsvc_variants_ionxpress_001-5225 1 rs2762779
dbSNP Clinvar
145075683 256.553 C T PASS 0/1 523 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%
View tsvc_variants_ionxpress_001-5225 1 rs1778111
dbSNP Clinvar
144915561 216.416 G A PASS 0/1 118 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%

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 tsvc_variants_ionxpress_001-5225 16 rs7499011
dbSNP Clinvar
81242198 539.89 G A PASS 1/1 64 STOP_GAINED HIGH None 0.16174 0.16170 0.29020 None None None None None None PKD1L2|0.005531409|85.17%
View tsvc_variants_ionxpress_001-5225 16 rs59980974
dbSNP Clinvar
81183325 134.984 T A PASS 0/1 72 STOP_GAINED HIGH None 0.16154 0.16150 0.07323 None None None None None None PKD1L2|0.005531409|85.17%

PLA2G2C

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 tsvc_variants_ionxpress_001-5225 1 rs12139100
dbSNP Clinvar
20501582 101.613 G A PASS 0/1 42 STOP_GAINED HIGH None 0.24022 0.24020 0.19971 None None None None None None PLA2G2C|0.019385415|74.49%

PRSS45

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 tsvc_variants_ionxpress_001-5225 3 rs753539604
dbSNP Clinvar
46786206 82.1297 C A PASS 0/1 77 STOP_GAINED HIGH None None None None None None None PRSS50|0.001682428|91.95%,PRSS45|0.008042933|82.6%

PVRIG

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 tsvc_variants_ionxpress_001-5225 7 rs7786505
dbSNP Clinvar
99817585 466.17 G T PASS 1/1 50 STOP_GAINED HIGH None 0.15415 0.15420 0.22270 None None None None None None STAG3|0.033904803|67.81%,GATS|0.004892386|85.92%,PVRIG|0.001754281|91.66%

RMDN2

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 tsvc_variants_ionxpress_001-5225 2 rs140191801
dbSNP Clinvar
38178404 116.705 C T PASS 0/1 54 STOP_GAINED HIGH None 0.00280 0.00280 0.00300 None None None None None None RMDN2|0.050273081|62.58%

SATL1

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 tsvc_variants_ionxpress_001-5225 X rs201698668
dbSNP Clinvar
84349207 357.173 G C PASS 1/1 39 STOP_GAINED HIGH None 0.00185 0.00185 0.00019 None None None None None None SATL1|0.000341371|99.25%

SLC22A10

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 tsvc_variants_ionxpress_001-5225 11 rs1790218
dbSNP Clinvar
63057925 163.427 G A PASS 0/1 54 STOP_GAINED HIGH None 0.43351 0.43350 0.47938 None None None None None None SLC22A10|0.000698114|97.25%

SLC26A3

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 tsvc_variants_ionxpress_001-5225 7 rs121913032
dbSNP Clinvar
107431504 71.9498 C A PASS 0/1 32 STOP_GAINED HIGH None None None None None None None SLC26A3|0.056559277|60.78%

SLC5A9

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 tsvc_variants_ionxpress_001-5225 1 rs850763
dbSNP Clinvar
48708228 51.3529 G T PASS 0/1 49 STOP_GAINED HIGH None 0.11382 0.11380 0.14809 None None None None None None SLC5A9|0.077112807|55.87%

SLC6A18

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 tsvc_variants_ionxpress_001-5225 5 rs7447815
dbSNP Clinvar
1240757 253.05 C G PASS 0/1 101 STOP_GAINED HIGH None 0.00060 0.34860 0.36445 None None None None None None SLC6A18|0.029366379|69.67%

TAS2R46

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 12 rs2708381
dbSNP Clinvar
11214145 225.678 C T PASS 0/1 133 STOP_GAINED HIGH None 0.21186 0.21190 0.22759 None None None None None None PRR4|0.000493683|98.46%,TAS2R14|0.00022192|99.72%,TAS2R46|0.000713016|97.2%

TPTE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 21 rs1810540
dbSNP Clinvar
10942756 45.635 G A PASS 0/1 135 STOP_GAINED HIGH None None None None None None None TPTE|0.001635216|92.18%

TTC4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 1 rs1147990
dbSNP Clinvar
55182300 77.4935 T A PASS 0/1 49 STOP_GAINED HIGH None 0.66833 0.66830 0.47509 0.27 0.00 None None None None None None TTC4|0.085109121|54.15%

ULK3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 15 . 75132030 118.806 G A PASS 0/1 31 STOP_GAINED HIGH None None None None None None None ULK3|0.181646729|38.83%

USP29

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 19 rs9973206
dbSNP Clinvar
57642782 486.275 C A PASS 1/1 55 STOP_GAINED HIGH None 0.95208 0.95210 0.11704 None None None None None None USP29|0.000863165|96.27%

ZNF117

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 7 rs1404453
dbSNP Clinvar
64438667 348.745 G A PASS 1/1 39 STOP_GAINED HIGH None 0.88179 0.88180 0.10150 None None None None None None ZNF117|0.000669116|97.44%

ZNF544

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 19 rs753737901
dbSNP Clinvar
58772412 64.8625 C A PASS 0/1 48 STOP_GAINED HIGH None None None None None None None ZNF544|0.001055336|95.13%

ZNF607

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 tsvc_variants_ionxpress_001-5225 19 rs759314904
dbSNP Clinvar
38189291 59.5736 G A PASS 0/1 30 STOP_GAINED HIGH None None None None None None None ZNF607|0.002324929|90.11%
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