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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 25

+ Genes associated with diseases 21

Genes at Omim

ALMS1, ANLN, APOL1, CFH, COL4A3, COL4A4, COQ2, COQ6, COQ7, COQ9, CRB2, CUBN, ITGB4, KANK1, MEFV, MYH9, NPHS1, NUP205, PLCE1, TRPC6, TTC21B,
ALMS1 Alstrom syndrome, 203800 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
APOL1 {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
CFH Basal laminar drusen, 126700 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3)
{Macular degeneration, age-related, 4}, 610698 (3)
Complement factor H deficiency, 609814 (3)
COL4A3 Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Hematuria, benign familial, 141200 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 (3)
COQ7 ?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
COQ9 Coenzyme Q10 deficiency, primary, 5, 614654 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
ITGB4 Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MYH9 Deafness, autosomal dominant 17, 603622 (3)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NUP205 ?Nephrotic syndrome, type 13, 616893 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
TRPC6 Glomerulosclerosis, focal segmental, 2, 603965 (3)
TTC21B Nephronophthisis 12, 613820 (3)
Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)

Genes at Clinical Genomics Database

ADCK4, ALMS1, ANLN, CFH, COL4A3, COL4A4, COQ2, COQ6, COQ7, COQ9, CRB2, CUBN, ITGB4, KANK1, MEFV, MYH9, NPHS1, NUP205, PLCE1, TRPC6, TTC21B,
ADCK4 Nephrotic syndrome, type 9
ALMS1 Alstrom syndrome
ANLN Focal segmental glomerulosclerosis 8
CFH Hemolytic uremic syndrome, atypical
Complement factor H deficiency
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL4A4 Alport syndrome, autosomal recessive
COQ2 Coenzyme Q10 deficiency 1
COQ6 Coenzyme Q10 deficiency, primary 6
COQ7 Coenzyme Q10 deficiency, primary 8
COQ9 Coenzyme Q10 deficiency 5
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
CUBN Megaloblastic anemia-1, Finnish type
ITGB4 Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa simplex, Weber-Cockayne type
KANK1 Cerebral palsy, spastic quadriplegic, 2
MEFV Familial Mediterranean fever
MYH9 Sebastian syndrome
May-Hegglin anomaly
Fechtner syndrome
Epstein syndrome
Macrothrombocytopenia and progressive sensorineural deafness
NPHS1 Nephrotic syndrome, type 1
NUP205 Nephrotic syndrome, type 13
PLCE1 Nephrotic syndrome, type 3
TRPC6 Focal segmental glomerulosclerosis 2
TTC21B Nephronophthisis 12
Short-rib thoracic dysplasia 4 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 56
Number of Genes: 25

Export to: CSV
  • Page 1 of 1

ADCK4
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 sample_hardfiltered 19 rs3865452
dbSNP Clinvar 		41211056 384.77 T C ReadPosRankSumTest 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47744 0.47740 0.45248 0.53 0.00 None None None None None None ADCK4|0.043749388|64.59%

ALMS1
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 sample_hardfiltered 2 rs1052161
dbSNP Clinvar 		73828538 3801.77 G A PASS 1/1 123 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58227 0.58230 0.46339 0.00 None None None None None None ALMS1|0.012791041|78.65%
View sample_hardfiltered 2 rs2037814
dbSNP Clinvar 		73675669 1871.77 T G PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87220 0.87220 0.11943 0.00 None None None None None None ALMS1|0.012791041|78.65%
View sample_hardfiltered 2 rs546111188
dbSNP Clinvar 		73678899 913.77 A G ReadPosRankSumTest 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00339 0.00340 0.99 None None None None None None ALMS1|0.012791041|78.65%

ANLN
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 sample_hardfiltered 7 rs197367
dbSNP Clinvar 		36445856 1098.77 G A ReadPosRankSumTest 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62061 0.62060 0.46094 1.00 0.00 None None None None None None ANLN|0.180116375|39.04%

APOL1
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 sample_hardfiltered 22 rs136175
dbSNP Clinvar 		36661566 3375.77 G A PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86422 0.86420 0.15308 0.04 0.00 None None None None None None APOL1|0.000329557|99.31%
View sample_hardfiltered 22 rs136176
dbSNP Clinvar 		36661646 4070.77 G A PASS 1/1 130 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86262 0.86260 0.15101 1.00 0.00 None None None None None None APOL1|0.000329557|99.31%
View sample_hardfiltered 22 rs2239785
dbSNP Clinvar 		36661330 2845.77 G A PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67812 0.67810 0.34715 0.16 0.78 None None None None None None APOL1|0.000329557|99.31%

CFH
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 sample_hardfiltered 1 rs800292
dbSNP Clinvar 		196642233 1339.77 G A ReadPosRankSumTest 0/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46805 0.46810 0.38659 1.00 0.00 None None None None None None CFH|0.021522909|73.44%
View sample_hardfiltered 1 rs1061170
dbSNP Clinvar 		196659237 1209.77 C T ReadPosRankSumTest 0/1 103 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73343 0.73340 0.37567 1.00 0.00 None None None None None None CFH|0.021522909|73.44%

COL4A3
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 sample_hardfiltered 2 rs6436669
dbSNP Clinvar 		228113175 542.77 A G ReadPosRankSumTest 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79633 0.79630 0.22987 1.00 0.01 None None None None None None COL4A3|0.119573089|47.51%
View sample_hardfiltered 2 rs10178458
dbSNP Clinvar 		228111435 662.77 T C ReadPosRankSumTest 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79673 0.79670 0.22958 1.00 0.01 None None None None None None COL4A3|0.119573089|47.51%
View sample_hardfiltered 2 rs28381984
dbSNP Clinvar 		228135631 1412.77 C T ReadPosRankSumTest 0/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39996 0.40000 0.38901 0.01 1.00 None None None None None None COL4A3|0.119573089|47.51%
View sample_hardfiltered 2 rs55703767
dbSNP Clinvar 		228121101 1496.77 G T ReadPosRankSumTest 0/1 129 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11582 0.11580 0.16577 0.06 0.16 None None None None None None COL4A3|0.119573089|47.51%

COL4A4
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 sample_hardfiltered 2 rs2229814
dbSNP Clinvar 		227954599 838.77 G A ReadPosRankSumTest 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54852 0.54850 0.49096 0.87 0.00 None None None None None None COL4A4|0.099677436|51.24%
View sample_hardfiltered 2 rs3752895
dbSNP Clinvar 		227886773 295.77 A G ReadPosRankSumTest 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52616 0.52620 0.47825 0.95 0.00 None None None None None None COL4A4|0.099677436|51.24%
View sample_hardfiltered 2 rs2229813
dbSNP Clinvar 		227892720 1009.77 C T ReadPosRankSumTest 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49301 0.49300 0.45483 1.00 0.00 None None None None None None COL4A4|0.099677436|51.24%
View sample_hardfiltered 2 rs1800517
dbSNP Clinvar 		227915832 1925.77 G A ReadPosRankSumTest 0/1 158 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54732 0.54730 0.48141 0.01 0.20 None None None None None None COL4A4|0.099677436|51.24%

COQ2
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 sample_hardfiltered 4 rs6818847
dbSNP Clinvar 		84205872 3656.77 C A ReadPosRankSumTest 0/1 329 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64976 0.64980 0.31481 0.33 0.00 None None None None None None COQ2|0.032632343|68.33%

COQ6
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 sample_hardfiltered 14 rs2074930
dbSNP Clinvar 		74428000 1083.77 A T ReadPosRankSumTest 0/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14956 0.14960 0.07981 0.41 0.01 None None None None None None COQ6|0.155475963|42.22%,ENTPD5|0.24144342|32.32%

COQ7
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 sample_hardfiltered 16 rs11074359
dbSNP Clinvar 		19085298 787.77 C T ReadPosRankSumTest 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57468 0.57470 0.46244 0.06 0.63 None None None None None None COQ7|0.07755176|55.76%

COQ9
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 sample_hardfiltered 16 rs547254482
dbSNP Clinvar 		57486832 545.77 T C ReadPosRankSumTest 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00140 0.00140 0.00 0.92 None None None None None None COQ9|0.108502854|49.46%

CRB2
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 sample_hardfiltered 9 rs2488601
dbSNP Clinvar 		126135715 8162.77 A G PASS 1/1 263 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97624 0.97620 0.02453 0.84 0.00 None None None None None None CRB2|0.035723803|67.22%
View sample_hardfiltered 9 rs2488602
dbSNP Clinvar 		126133547 8740.77 T C ReadPosRankSumTest 1/1 293 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99661 0.99660 0.00277 1.00 0.00 None None None None None None CRB2|0.035723803|67.22%
View sample_hardfiltered 9 rs2808415
dbSNP Clinvar 		126125318 2491.77 C A PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99701 0.99700 0.00277 1.00 0.00 None None None None None None CRB2|0.035723803|67.22%

CUBN
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 sample_hardfiltered 10 rs1276712
dbSNP Clinvar 		16967401 2797.77 C T PASS 1/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99341 0.99340 0.00038 1.00 0.00 None None None None None None CUBN|0.033721807|67.86%
View sample_hardfiltered 10 rs3740168
dbSNP Clinvar 		16948390 1072.77 G C ReadPosRankSumTest 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06749 0.06749 0.01215 0.21 0.10 None None None None None None CUBN|0.033721807|67.86%
View sample_hardfiltered 10 rs2796835
dbSNP Clinvar 		16943371 1705.77 G C PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00008 1.00 0.00 None None None None None None CUBN|0.033721807|67.86%
View sample_hardfiltered 10 rs1801232
dbSNP Clinvar 		16870912 4199.77 G T PASS 1/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00599 0.00599 0.05567 0.15 0.19 None None None None None None CUBN|0.033721807|67.86%
View sample_hardfiltered 10 rs1801224
dbSNP Clinvar 		17147521 2547.77 G T PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53435 0.53430 0.41243 0.03 0.21 None None None None None None CUBN|0.033721807|67.86%
View sample_hardfiltered 10 rs1801231
dbSNP Clinvar 		17024503 1187.77 G A ReadPosRankSumTest 0/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61342 0.61340 0.25127 0.61 0.05 None None None None None None CUBN|0.033721807|67.86%
View sample_hardfiltered 10 rs2271460
dbSNP Clinvar 		16961995 942.77 A C ReadPosRankSumTest 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03375 0.03375 0.00715 0.00 1.00 None None None None None None CUBN|0.033721807|67.86%

FAT1
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 sample_hardfiltered 4 rs3733414
dbSNP Clinvar 		187629770 1226.77 A C ReadPosRankSumTest 0/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39896 0.39900 0.45684 0.39 0.03 None None None None None None FAT1|0.058949696|60.16%
View sample_hardfiltered 4 rs367863
dbSNP Clinvar 		187629140 1604.77 G C ReadPosRankSumTest 0/1 103 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69050 0.69050 0.21992 1.00 0.00 None None None None None None FAT1|0.058949696|60.16%
View sample_hardfiltered 4 rs1877731
dbSNP Clinvar 		187628398 1476.77 C G ReadPosRankSumTest 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68910 0.68910 0.22448 1.00 0.00 None None None None None None FAT1|0.058949696|60.16%
View sample_hardfiltered 4 rs11939575
dbSNP Clinvar 		187627792 871.77 T C ReadPosRankSumTest 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74581 0.74580 0.17278 1.00 0.00 None None None None None None FAT1|0.058949696|60.16%
View sample_hardfiltered 4 rs1280097
dbSNP Clinvar 		187519206 2205.77 C G PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99740 0.99740 0.00479 1.00 0.00 None None None None None None FAT1|0.058949696|60.16%
View sample_hardfiltered 4 rs3733413
dbSNP Clinvar 		187629538 1023.77 C T ReadPosRankSumTest 0/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33886 0.33890 0.46072 0.29 0.09 None None None None None None FAT1|0.058949696|60.16%

ITGB4
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 sample_hardfiltered 17 rs871443
dbSNP Clinvar 		73753503 811.77 T C ReadPosRankSumTest 0/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57149 0.57150 0.39643 0.00 0.83 None None None None None None ITGB4|0.346553835|24.38%,GALK1|0.289083483|28.42%

KANK1
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 sample_hardfiltered 9 rs4465020
dbSNP Clinvar 		712060 1081.77 G C ReadPosRankSumTest 0/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23522 0.23520 0.28802 0.07 0.09 None None None None None None KANK1|0.107252286|49.74%

KANK4
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 sample_hardfiltered 1 rs2941679
dbSNP Clinvar 		62713224 1418.77 C G PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98622 0.98620 0.02922 0.94 0.00 None None None None None None KANK4|0.062859636|59.12%
View sample_hardfiltered 1 rs11207949
dbSNP Clinvar 		62732421 587.77 T C ReadPosRankSumTest 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30551 0.30550 0.23743 0.12 0.01 None None None None None None KANK4|0.062859636|59.12%
View sample_hardfiltered 1 rs2258470
dbSNP Clinvar 		62728838 4751.77 T C PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71625 0.71630 0.32539 0.22 0.00 None None None None None None KANK4|0.062859636|59.12%
View sample_hardfiltered 1 rs2666472
dbSNP Clinvar 		62728784 2171.77 A G PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71586 0.71590 0.32570 0.93 0.06 None None None None None None KANK4|0.062859636|59.12%

LDHAL6B
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 sample_hardfiltered 15 rs3825937
dbSNP Clinvar 		59500116 1448.77 T C ReadPosRankSumTest 0/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39896 0.39900 0.27234 0.06 0.62 None None None None None None MYO1E|0.320334371|26.13%,LDHAL6B|0.001955723|91.11%
View sample_hardfiltered 15 rs3809529
dbSNP Clinvar 		59499228 546.77 C T ReadPosRankSumTest 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49121 0.49120 0.35758 0.12 0.00 None None None None None None MYO1E|0.320334371|26.13%,LDHAL6B|0.001955723|91.11%
View sample_hardfiltered 15 rs3809530
dbSNP Clinvar 		59499179 412.77 G A ReadPosRankSumTest 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40276 0.40280 0.28082 0.15 0.01 None None None None None None MYO1E|0.320334371|26.13%,LDHAL6B|0.001955723|91.11%

MEFV
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 sample_hardfiltered 16 rs3743930
dbSNP Clinvar 		3304626 704.77 C G ReadPosRankSumTest 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12640 0.12640 0.01120 0.03 0.85 None None None None None None MEFV|0.009048238|81.61%

MYH9
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 sample_hardfiltered 22 rs559841300
dbSNP Clinvar 		36716390 1259.77 G A ReadPosRankSumTest 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.13 0.19 None None None None None None MYH9|0.668562251|9.42%
View sample_hardfiltered 22 rs2269529
dbSNP Clinvar 		36684354 2234.77 T C ReadPosRankSumTest 0/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29413 0.29410 0.15554 0.34 0.04 None None None None None None MYH9|0.668562251|9.42%

NPHS1
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 sample_hardfiltered 19 rs3814995
dbSNP Clinvar 		36342212 583.77 C T ReadPosRankSumTest 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29193 0.29190 0.23320 0.04 0.97 None None None None None None NPHS1|0.136914546|44.89%

NUP205
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 sample_hardfiltered 7 rs7810767
dbSNP Clinvar 		135304273 2854.77 G C PASS 1/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98003 0.98000 0.01615 1.00 0.00 None None None None None None NUP205|0.611820323|11.41%

PLCE1
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 sample_hardfiltered 10 rs2274224
dbSNP Clinvar 		96039597 12366.77 G C PASS 1/1 401 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48622 0.48620 0.47594 0.69 0.00 None None None None None None PLCE1|0.494563686|16.1%

TRPC6
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 sample_hardfiltered 11 rs36111323
dbSNP Clinvar 		101359750 554.77 G A ReadPosRankSumTest 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06430 0.06430 0.08820 0.28 1.00 None None None None None None TRPC6|0.710147935|8.23%
View sample_hardfiltered 11 rs3802829
dbSNP Clinvar 		101454192 1633.77 G A ReadPosRankSumTest 0/1 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06769 0.06769 0.06317 0.24 0.07 None None None None None None TRPC6|0.710147935|8.23%

TTC21B
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 sample_hardfiltered 2 rs7592429
dbSNP Clinvar 		166788336 3102.77 T C PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94808 0.94810 0.05428 1.00 0.00 None None None None None None TTC21B|0.262775254|30.49%
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