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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


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

BIN1, COL6A3, DES, DYSF, KLHL41, LIMS2, NEB, SPEG, TTN,
BIN1 Centronuclear myopathy 2, 255200 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
DES Cardiomyopathy, dilated, 1I, 604765 (3)
Myopathy, myofibrillar, 1, 601419 (3)
Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)
DYSF Miyoshi muscular dystrophy 1, 254130 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3)
Myopathy, distal, with anterior tibial onset, 606768 (3)
KLHL41 Nemaline myopathy 9, 615731 (3)
LIMS2 ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, 616827 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
SPEG Centronuclear myopathy 5, 615959 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)

Genes at Clinical Genomics Database

BIN1, COL6A3, DES, DYSF, KLHL41, LIMS2, NEB, SPEG, TTN,
BIN1 Myopathy, centronuclear, 2
COL6A3 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
Dystonia 27
DES Myopathy, myofibrillar 1
Cardiomyopathy, dilated, 1I
DYSF Miyoshi muscular dystrophy 1
Muscular dystrophy, limb-girdle, type 2B
Myopathy, distal, with anterior tibial onset
KLHL41 Nemaline myopathy 9
LIMS2 Muscular dystrophy, limb-girdle, type 2W
NEB Nemaline myopathy 2
SPEG Centronuclear myopathy 5
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G

Genes at HGMD

Summary

Number of Variants: 300
Number of Genes: 9

Export to: CSV

BIN1

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 annovar hg19_multianno_pass 2 rs1060743
dbSNP Clinvar
127826533 1547.77 A G . 1/1 53 SYNONYMOUS_CODING LOW None 0.35463 0.35460 0.27180 None None None None None None BIN1|0.158796127|41.75%

COL6A3

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 annovar hg19_multianno_pass 2 rs2270669
dbSNP Clinvar
238243464 1413.77 C G . 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.79233 0.79230 0.16492 1.00 0.00 None None None None None None COL6A3|0.068829768|57.76%
View annovar hg19_multianno_pass 2 rs2270671
dbSNP Clinvar
238243285 739.77 G A . 0/1 50 SYNONYMOUS_CODING LOW None 0.10044 0.10040 0.09995 None None None None None None COL6A3|0.068829768|57.76%
View annovar hg19_multianno_pass 2 rs10084221
dbSNP Clinvar
238253332 945.77 G A . 0/1 95 SYNONYMOUS_CODING LOW None 0.07089 0.07089 0.07520 None None None None None None COL6A3|0.068829768|57.76%
View annovar hg19_multianno_pass 2 rs2646258
dbSNP Clinvar
238253149 1191.77 G A . 0/1 72 SYNONYMOUS_CODING LOW None 0.10843 0.10840 0.10042 None None None None None None COL6A3|0.068829768|57.76%
View annovar hg19_multianno_pass 2 rs2646254
dbSNP Clinvar
238267717 1802.77 C T . 0/1 129 SYNONYMOUS_CODING LOW None 0.33087 0.33090 0.24919 None None None None None None COL6A3|0.068829768|57.76%
View annovar hg19_multianno_pass 2 rs36117715
dbSNP Clinvar
238262021 517.77 G A . 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.07408 0.07408 0.08304 0.18 0.00 None None None None None None COL6A3|0.068829768|57.76%
View annovar hg19_multianno_pass 2 rs6728818
dbSNP Clinvar
238244963 6424.77 A G . 1/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.63658 0.63660 0.30345 0.79 0.00 None None None None None None COL6A3|0.068829768|57.76%
View annovar hg19_multianno_pass 2 rs2646265
dbSNP Clinvar
238257013 608.77 G A . 0/1 42 SYNONYMOUS_CODING LOW None 0.10643 0.10640 0.09772 None None None None None None COL6A3|0.068829768|57.76%
View annovar hg19_multianno_pass 2 rs10201909
dbSNP Clinvar
238243369 733.77 G A . 0/1 55 SYNONYMOUS_CODING LOW None 0.07089 0.07089 0.07527 None None None None None None COL6A3|0.068829768|57.76%

DES

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 annovar hg19_multianno_pass 2 rs1318299
dbSNP Clinvar
220283259 7989.77 A G . 1/1 250 SYNONYMOUS_CODING LOW None 0.88618 0.88620 0.10277 None None None None None None DES|0.992332049|0.99%
View annovar hg19_multianno_pass 2 rs1058261
dbSNP Clinvar
220285309 614.77 C T . 0/1 58 SYNONYMOUS_CODING LOW None 0.33746 0.33750 0.38452 None None None None None None DES|0.992332049|0.99%
View annovar hg19_multianno_pass 2 rs12920
dbSNP Clinvar
220285666 343.77 G C . 0/1 31 SYNONYMOUS_CODING LOW None 0.33766 0.33770 0.38659 None None None None None None DES|0.992332049|0.99%
View annovar hg19_multianno_pass 2 rs1058284
dbSNP Clinvar
220286142 583.77 G A . 0/1 79 SYNONYMOUS_CODING LOW None 0.33367 0.33370 0.38444 None None None None None None DES|0.992332049|0.99%
View annovar hg19_multianno_pass 2 rs2017800
dbSNP Clinvar
220283277 7966.77 T C . 1/1 244 SYNONYMOUS_CODING LOW None 0.86601 0.86600 0.12061 None None None None None None DES|0.992332049|0.99%

DYSF

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 annovar hg19_multianno_pass 2 rs2303596
dbSNP Clinvar
71780215 1635.77 T C . 1/1 53 SYNONYMOUS_CODING LOW None 0.57548 0.57550 0.26511 None None None None None None DYSF|0.429167677|19.17%
View annovar hg19_multianno_pass 2 rs2288355
dbSNP Clinvar
71795152 2332.77 A T . 1/1 75 SYNONYMOUS_CODING LOW None 0.55052 0.55050 0.28379 None None None None None None DYSF|0.429167677|19.17%
View annovar hg19_multianno_pass 2 rs62145939
dbSNP Clinvar
71886100 1367.77 G A . 0/1 134 SYNONYMOUS_CODING LOW None 0.00739 0.00739 0.01991 None None None None None None DYSF|0.429167677|19.17%

KLHL41

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 annovar hg19_multianno_pass 2 rs28763868
dbSNP Clinvar
170367099 1629.77 G A . 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.05970 0.05970 0.08796 0.52 0.01 None None None None None None BBS5|0.653409405|9.97%,KLHL41|0.247324385|31.79%

LIMS2

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 annovar hg19_multianno_pass 2 rs4662751
dbSNP Clinvar
128400608 975.77 C T . 1/1 31 SYNONYMOUS_CODING LOW None 0.54513 0.54510 0.49360 None None None None None None LIMS2|0.178462666|39.21%

NEB

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 annovar hg19_multianno_pass 2 rs6710212
dbSNP Clinvar
152490458 4751.77 A G . 1/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.97205 0.97200 0.02431 0.76 0.00 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs4611637
dbSNP Clinvar
152573981 115.77 A G . 0/1 57 SYNONYMOUS_CODING LOW None 0.56929 0.56930 0.31389 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs6713162
dbSNP Clinvar
152496526 578.77 A G . 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.44529 0.44530 0.30102 1.00 0.00 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs7575451
dbSNP Clinvar
152352843 1814.77 C G . 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.62780 0.62780 0.37120 0.35 0.00 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs115631125
dbSNP Clinvar
152417767 593.77 C A . 0/1 38 SYNONYMOUS_CODING LOW None 0.00539 0.00539 0.00503 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs2288210
dbSNP Clinvar
152422076 1710.77 C G . 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.65316 0.65320 0.35023 1.00 0.00 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs10170273
dbSNP Clinvar
152521096 483.77 C T . 0/1 48 SYNONYMOUS_CODING LOW None 0.43490 0.43490 0.29511 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs16830192
dbSNP Clinvar
152398045 757.77 G C . 0/1 53 SYNONYMOUS_CODING LOW None 0.08407 0.08407 0.03650 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs7426114
dbSNP Clinvar
152527572 966.77 C T . 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.53315 0.53310 0.33854 0.04 0.98 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs34577613
dbSNP Clinvar
152527608 910.77 C T . 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.33526 0.33530 0.19139 1.00 0.00 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs6711382
dbSNP Clinvar
152531077 492.77 A G . 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.71605 0.71610 0.18222 1.00 0.00 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs35227368
dbSNP Clinvar
152432811 1313.77 A T . 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.07788 0.07788 0.03166 0.28 0.99 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs6735208
dbSNP Clinvar
152536498 633.77 T A . 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.58347 0.58350 0.30143 0.03 1.00 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs200602229
dbSNP Clinvar
152436014 41.74 G C . 1/1 2 SYNONYMOUS_CODING LOW None 0.05012 0.05012 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs2288200
dbSNP Clinvar
152404218 1351.77 T A . 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.08826 0.08826 0.03911 0.00 1.00 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs10172023
dbSNP Clinvar
152476028 1063.77 C G . 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.21985 0.21980 0.26874 0.00 1.00 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs6709886
dbSNP Clinvar
152490219 2242.77 A G . 0/1 164 SYNONYMOUS_CODING LOW None 0.62600 0.62600 0.40123 None None None None None None NEB|0.790698728|6.11%

SPEG

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 annovar hg19_multianno_pass 2 rs10167209
dbSNP Clinvar
220333950 7800.77 T C . 1/1 247 SYNONYMOUS_CODING LOW None 0.98383 0.98380 0.01610 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs45519033
dbSNP Clinvar
220342004 1145.77 G A . 0/1 250 SYNONYMOUS_CODING LOW None 0.04073 0.04073 0.05259 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs12464085
dbSNP Clinvar
220355529 1778.77 A G . 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.40096 0.40100 0.38953 1.00 0.00 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs530008202
dbSNP Clinvar
220357365 1917.77 G A . 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.10 0.15 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs10755037
dbSNP Clinvar
220348751 2127.77 C T . 0/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.28554 0.28550 0.25084 0.10 0.00 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs875098
dbSNP Clinvar
220353013 588.77 G A . 0/1 54 SYNONYMOUS_CODING LOW None 0.28634 0.28630 0.25636 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs12473286
dbSNP Clinvar
220356520 366.77 G T . 0/1 40 SYNONYMOUS_CODING LOW None 0.28075 0.28080 0.25690 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs10932806
dbSNP Clinvar
220315970 633.77 G A . 1/1 21 SYNONYMOUS_CODING LOW None 0.43231 0.43230 0.40948 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs772920788
dbSNP Clinvar
220353614 2346.77 G A . 0/1 249 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.07 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs55760516
dbSNP Clinvar
220354108 582.77 A G . 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.40835 0.40830 0.37368 0.51 0.00 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs56132883
dbSNP Clinvar
220354365 1144.77 C T . 0/1 69 SYNONYMOUS_CODING LOW None 0.28654 0.28650 0.25679 None None None None None None SPEG|0.194067813|37.41%
View annovar hg19_multianno_pass 2 rs55969678
dbSNP Clinvar
220354542 455.77 G A . 0/1 55 SYNONYMOUS_CODING LOW None 0.05671 0.05671 0.05605 None None None None None None SPEG|0.194067813|37.41%

TTN

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 annovar hg19_multianno_pass 2 rs1552280
dbSNP Clinvar
179644035 2052.77 G A . 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.92013 0.92010 0.04914 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs35833641
dbSNP Clinvar
179462494 3040.77 A G . 1/1 103 SYNONYMOUS_CODING LOW None 0.12700 0.12700 0.22001 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs922986
dbSNP Clinvar
179615994 3000.77 T C . 1/1 89 None None None 0.97504 0.97500 0.02753 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs13021201
dbSNP Clinvar
179449131 1053.77 G A . 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.01078 0.01078 0.03170 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs4145333
dbSNP Clinvar
179444768 4313.77 C G . 1/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.99461 0.99460 0.00438 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs12464787
dbSNP Clinvar
179440029 3144.77 G A . 1/1 93 SYNONYMOUS_CODING LOW None 0.14657 0.14660 0.23862 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs2742348
dbSNP Clinvar
179600563 2167.77 G A . 1/1 68 SYNONYMOUS_CODING LOW None 0.98183 0.98180 0.01897 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs10803917
dbSNP Clinvar
179614952 4678.77 A G . 1/1 144 None None None 0.97504 0.97500 0.02745 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs922984
dbSNP Clinvar
179615887 1735.77 T C . 1/1 52 None None None 0.73303 0.73300 0.18194 0.00 0.00 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs922985
dbSNP Clinvar
179615931 1845.77 C G . 1/1 55 None None None 0.97504 0.97500 0.02755 0.08 0.00 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs12463674
dbSNP Clinvar
179432185 3228.29 A G . 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.12999 0.13000 0.22586 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs10497520
dbSNP Clinvar
179644855 2818.77 T C . 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.50020 0.50020 0.26511 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs2244492
dbSNP Clinvar
179554305 3011.77 C T . 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.41334 0.41330 0.43349 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs7585334
dbSNP Clinvar
179620951 968.77 C T . 1/1 29 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.80451 0.80450 0.09719 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs6433728
dbSNP Clinvar
179621477 1151.77 C T . 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00083 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs2291310
dbSNP Clinvar
179623758 4065.77 C T . 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.80891 0.80890 0.09765 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs6715406
dbSNP Clinvar
179650701 2849.77 C T . 1/1 91 SYNONYMOUS_CODING LOW None 0.20467 0.20470 0.33600 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs36051007
dbSNP Clinvar
179545859 2807.77 C T . 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.12600 0.12600 0.22636 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs4894043
dbSNP Clinvar
179629363 1805.77 T C . 1/1 58 SYNONYMOUS_CODING LOW None 0.97364 0.97360 0.02968 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs2291311
dbSNP Clinvar
179629461 1491.77 C T . 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.80491 0.80490 0.10349 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 rs2562831
dbSNP Clinvar
179585266 3437.77 C T . 1/1 104 SYNONYMOUS_CODING LOW None 0.98203 0.98200 0.01859 None None None None None None TTN|0.331370966|25.39%
View annovar hg19_multianno_pass 2 . 179498810 542.77 C A . 0/1 42 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None None None None None None None TTN|0.331370966|25.39%
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 annovar hg19_multianno_pass 2 rs75308426
dbSNP Clinvar
127821839 31.77 G C . 0/1 3 None None None 0.34525 0.34520 None None None None None None BIN1|0.158796127|41.75%
View annovar hg19_multianno_pass 2 rs3768858
dbSNP Clinvar
127826833 36.77 G A . 0/1 4 None None None 0.15735 0.15730 None None None None None None BIN1|0.158796127|41.75%
View annovar hg19_multianno_pass 2 rs7562227
dbSNP Clinvar
127834459 306.78 T C . 1/1 9 None None None 0.58646 0.58650 None None None None None None BIN1|0.158796127|41.75%
View annovar hg19_multianno_pass 2 rs4663093
dbSNP Clinvar
127839434 172.77 C T . 0/1 28 None None None 0.07208 0.07208 None None None None None None BIN1|0.158796127|41.75%
View annovar hg19_multianno_pass 2 rs891515
dbSNP Clinvar
128396807 47.77 A G . 0/1 16 None None None 0.58467 0.58470 0.39989 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs201050671
dbSNP Clinvar
128396831 116.77 G A . 0/1 20 None None None 0.00419 0.00419 0.00015 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs2244507
dbSNP Clinvar
128401091 761.77 A G . 0/1 70 None None None 0.65815 0.65810 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs6707277
dbSNP Clinvar
128411934 681.77 A G . 1/1 23 None None None 0.87460 0.87460 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs6707282
dbSNP Clinvar
128411950 739.77 A G . 1/1 26 None None None 0.87540 0.87540 0.15539 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs13426503
dbSNP Clinvar
128413311 51.74 C T . 1/1 2 None None None 0.32109 0.32110 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs34006819
dbSNP Clinvar
128421763 51.74 C T . 1/1 2 None None None 0.14397 0.14400 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs6430942
dbSNP Clinvar
128431188 509.77 A G . 0/1 43 None None None 0.38538 0.38540 0.34385 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs7591197
dbSNP Clinvar
128431397 348.77 A G . 0/1 23 None None None 0.21366 0.21370 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs79485780
dbSNP Clinvar
128432534 188.77 A G . 0/1 23 None None None 0.18990 0.18990 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs11893824
dbSNP Clinvar
128438709 30.77 A G . 0/1 6 None None None 0.43530 0.43530 None None None None None None LIMS2|0.178462666|39.21%
View annovar hg19_multianno_pass 2 rs11684706
dbSNP Clinvar
128439411 477.77 A G . 0/1 32 None None None 0.14617 0.14620 None None None None None None None
View annovar hg19_multianno_pass 2 rs11695285
dbSNP Clinvar
152342674 161.9 C T . 1/1 5 None None None 0.06230 0.06230 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs557696314
dbSNP Clinvar
152348569 902.77 C T . 0/1 85 None None None 0.00020 0.00020 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs115730804
dbSNP Clinvar
152349798 1128.77 G A . 1/1 33 None None None 0.05731 0.05731 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs4664455
dbSNP Clinvar
152350462 959.77 T C . 1/1 30 None None None 0.64117 0.64120 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs16830106
dbSNP Clinvar
152352590 34.77 T G . 0/1 4 None None None 0.04832 0.04832 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs114687041
dbSNP Clinvar
152352658 360.77 A G . 0/1 21 None None None 0.05032 0.05032 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs115394251
dbSNP Clinvar
152358042 1200.77 T C . 0/1 68 None None None 0.05871 0.05871 0.00679 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs3213817
dbSNP Clinvar
152359762 408.77 C T . 0/1 26 None None None 0.00859 0.00859 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs3835058,rs796288491
dbSNP Clinvar
152360136 220.25 AT A . 0/1 10 None None None 0.62560 0.62560 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs114244531
dbSNP Clinvar
152362423 31.77 G A . 0/1 5 None None None 0.04792 0.04792 None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 . 152363310 99.77 T A . 0/1 8 None None None None None None None None None RIF1|0.090258604|53.18%,NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs13023600
dbSNP Clinvar
152369117 649.77 T C . 1/1 18 None None None 0.99661 0.99660 None None None None None None NEB|0.790698728|6.11%
View annovar hg19_multianno_pass 2 rs7566225
dbSNP Clinvar
152369791 75.78 C T . 0/1 4 None None None 0.62800 0.62800 None None None None None None NEB|0.790698728|6.11%