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READ DEPTH:

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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
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Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 126
Number of Genes: 1

Export to: CSV

MICALCL

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_62.variant24 11 rs761605598
dbSNP Clinvar
12316344 186.11 GC... GC... PASS 0/5 22 CODON_INSERTION MODERATE None None None None None None None MICALCL|0.003201698|88.32%
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_62.variant24 1 rs748034364
dbSNP Clinvar
114449826 490.04 GT... GT... PASS 0/5 23 None None None 0.06175 None None None None None None DCLRE1B|0.066067298|58.35%
View combined sample_62.variant24 2 . 7471480 47.12 TCACA TC... PASS 0/5 22 None None None None None None None None None None
View combined sample_62.variant24 2 rs375905591,rs397724817
dbSNP Clinvar
9661969 3020.68 T TC... PASS 0/5 66 None None None None None None None None None ADAM17|0.398835803|20.86%
View combined sample_62.variant24 2 . 45172449 165.18 TA... TA... PASS 0/5 9 None None None None None None None None None SIX3|0.588177172|12.2%
View combined sample_62.variant24 2 . 191552121 162.93 CA... CA... PASS 0/5 42 None None None None None None None None None NAB1|0.259710649|30.76%
View combined sample_62.variant24 2 . 197000501 139.34 CA CA... PASS 0/5 35 None None None None None None None None None STK17B|0.190903367|37.72%
View combined sample_62.variant24 2 . 217123230 73.82 GG... GG... PASS 0/5 39 None None None None None None None None None MARCH4|0.393664746|21.15%
View combined sample_62.variant24 3 . 196559607 113.35 CT... CT... PASS 0/5 6 None None None None None None None None None None
View combined sample_62.variant24 3 . 197613675 84.7 CAAAA CA... PASS 0/5 11 None None None None None None None None None LRCH3|0.208574321|35.75%
View combined sample_62.variant24 4 . 40812594 358.77 CAAA CA... PASS 0/5 74 None None None None None None None None None APBB2|0.401070014|20.7%
View combined sample_62.variant24 4 rs768174909
dbSNP Clinvar
122851985 95.53 TAAA TA... PASS 0/5 49 None None None None None None None None None TRPC3|0.716116848|8.1%
View combined sample_62.variant24 5 rs879243889
dbSNP Clinvar
125929000 374.21 AA... AA... PASS 0/5 14 None None None None None None None None None ALDH7A1|0.08379131|54.47%
View combined sample_62.variant24 5 rs765661151,rs3075597
dbSNP Clinvar
141034749 164.65 TACAC TA... PASS 0/5 9 None None None None None None None None None ARAP3|0.158448394|41.8%
View combined sample_62.variant24 5 . 179004160 218.66 CT... CT... PASS 0/5 19 None None None None None None None None None RUFY1|0.095927869|51.95%
View combined sample_62.variant24 6 rs759220446
dbSNP Clinvar
80409180 94.25 CTTT CT... PASS 0/5 31 None None None None None None None None None SH3BGRL2|0.347789913|24.29%
View combined sample_62.variant24 6 . 125409160 82.58 CT... CT... PASS 0/5 11 None None None None None None None None None RNF217|0.377303916|22.24%
View combined sample_62.variant24 7 rs768464611
dbSNP Clinvar
3180880 298.19 CT... CT... PASS 0/5 21 None None None None None None None None None None
View combined sample_62.variant24 7 rs766308418
dbSNP Clinvar
155465438 930.75 CAAAA C,... PASS 0/5 33 None None None None None None None None None RBM33|0.151811738|42.71%
View combined sample_62.variant24 9 . 112629444 381.53 CT... CT... PASS 0/5 22 None None None None None None None None None PALM2|0.566426234|13.14%,PALM2-AKAP2|0.163410266|41.09%,AKAP2|0.121220388|47.25%
View combined sample_62.variant24 9 . 127282180 232.11 CA... C,... PASS 0/5 23 None None None None None None None None None NR6A1|0.832541273|5.06%
View combined sample_62.variant24 10 . 31816340 649.21 AA... AA... PASS 0/5 74 None None None None None None None None None ZEB1|0.848008697|4.69%
View combined sample_62.variant24 11 rs151193662
dbSNP Clinvar
8797705 190.79 G GC... PASS 0/5 18 None None None None None None None None None ST5|0.586705088|12.27%
View combined sample_62.variant24 12 . 1021888 45.11 CA... C,... PASS 0/5 6 None None None None None None None None None RAD52|0.088397129|53.56%
View combined sample_62.variant24 11 . 76735117 42.17 CA... CA... PASS 0/5 30 None None None None None None None None None ACER3|0.282744715|28.9%
View combined sample_62.variant24 12 rs574938327
dbSNP Clinvar
50898784 896.05 T TG... PASS 0/5 43 None None None None None None None None None DIP2B|0.298176255|27.8%
View combined sample_62.variant24 13 . 79894084 41.76 CT... CT... PASS 0/5 27 SPLICE_SITE_REGION LOW None None None None None None None RBM26|0.590270463|12.12%
View combined sample_62.variant24 15 rs878911812
dbSNP Clinvar
35044155 218.0 GG... GA... PASS 0/5 11 None None None None None None None None None GJD2|0.601939407|11.72%
View combined sample_62.variant24 15 . 43698238 496.21 CAAAA CA... PASS 0/5 41 None None None None None None None None None TUBGCP4|0.546542388|13.88%
View combined sample_62.variant24 15 rs878864381
dbSNP Clinvar
63616886 43.96 ATT AT... PASS 0/5 25 None None None None None None None None None CA12|0.074205068|56.48%
View combined sample_62.variant24 15 . 65620633 31.89 CTT CT... PASS 0/5 19 None None None None None None None None None IGDCC3|0.149303312|43.11%
View combined sample_62.variant24 16 . 4737579 241.04 TAC TA... PASS 0/5 9 None None None None None None None None None MGRN1|0.132392343|45.56%
View combined sample_62.variant24 16 rs200220113
dbSNP Clinvar
24676090 301.03 TC... TC... PASS 0/5 17 None None None None None None None None None None
View combined sample_62.variant24 17 rs150367922,rs71300085
dbSNP Clinvar
37101101 151.61 A AT... PASS 0/5 6 None None None None None None None None None FBXO47|0.203159321|36.35%
View combined sample_62.variant24 17 . 37400091 214.94 CAAA CA... PASS 0/5 20 None None None None None None None None None None
View combined sample_62.variant24 17 rs748065402
dbSNP Clinvar
38375620 1525.74 TGGC TG... PASS 0/5 37 None None None None None None None None None WIPF2|0.474170171|17%
View combined sample_62.variant24 18 . 39609498 195.09 AT... A,... PASS 0/5 14 None None None None None None None None None PIK3C3|0.681971085|9.02%
View combined sample_62.variant24 19 rs771341171
dbSNP Clinvar
13218799 127.54 CT... CT... PASS 0/5 20 None None None None None None None None None TRMT1|0.046642796|63.69%
View combined sample_62.variant24 19 . 14492077 355.87 CG... CG... PASS 0/5 37 None None None None None None None None None ADGRE5|0.001053928|95.16%
View combined sample_62.variant24 19 rs372915938
dbSNP Clinvar
39797370 91.66 AA... AA... PASS 0/5 18 None None None None None None None None None LRFN1|0.061207448|59.53%
View combined sample_62.variant24 19 . 44889162 730.39 CA... C,... PASS 0/5 35 None None None None None None None None None ZNF285|0.001247601|94.18%
View combined sample_62.variant24 21 . 44438157 352.5 CA... CA... PASS 0/5 21 None None None None None None None None None PKNOX1|0.097034249|51.72%
View combined sample_62.variant24 21 rs796798002
dbSNP Clinvar
45094467 137.54 CTT C,... PASS 0/5 21 None None None None None None None None None RRP1B|0.00474795|86.16%
View combined sample_62.variant24 22 . 18358448 62.19 TAAA T,... PASS 0/5 11 None None None None None None None None None MICAL3|0.205641571|36.04%
View combined sample_62.variant24 X . 1317599 218.7 TA... TA... PASS 0/5 36 None None None None None None None None None CRLF2|0.001160822|94.64%
View combined sample_62.variant24 1 rs371457544
dbSNP Clinvar
111893788 117.88 GT... GT... PASS 0/5 29 None None None 0.37380 0.37380 None None None None None None PIFO|0.015568192|76.74%
View combined sample_62.variant24 22 . 50913394 518.22 CG... CG... PASS 0/5 52 None None None None None None None None None SBF1|0.055734272|61.01%
View combined sample_62.variant24 1 . 167862933 34.53 CA... CA... PASS 0/5 8 None None None None None None None None None ADCY10|0.02878338|70.03%
View combined sample_62.variant24 2 . 219941279 63.57 CT... CT... PASS 0/5 14 None None None None None None None None None NHEJ1|0.125381052|46.57%,SLC23A3|0.053610275|61.58%
View combined sample_62.variant24 3 rs537893659
dbSNP Clinvar
29628718 215.21 GTTT GT... PASS 0/5 30 None None None None None None None None None RBMS3|0.934703314|2.66%
View combined sample_62.variant24 3 rs770031001
dbSNP Clinvar
119348345 1092.9 AT AT... PASS 0/5 122 None None None None None None None None None PLA1A|0.038413908|66.33%
View combined sample_62.variant24 3 rs756050149
dbSNP Clinvar
148897498 318.52 TACAC T,... PASS 0/5 25 None None None None None None None None None CP|0.122810298|46.99%
View combined sample_62.variant24 4 . 30976765 308.77 TT... TT... PASS 0/5 20 None None None None None None None None None PCDH7|0.844117038|4.78%
View combined sample_62.variant24 4 rs746889575
dbSNP Clinvar
76442226 177.0 CTT CT... PASS 0/5 9 None None None None None None None None None THAP6|0.084556606|54.3%
View combined sample_62.variant24 5 rs563628023
dbSNP Clinvar
112361289 368.12 CA CA... PASS 0/5 44 None None None 0.14796 0.14800 None None None None None None MCC|0.469013944|17.21%
View combined sample_62.variant24 7 rs745754898
dbSNP Clinvar
102961277 39.11 CT... CT... PASS 0/5 12 None None None None None None None None None PMPCB|0.329266362|25.53%,DNAJC2|0.717966079|8.02%
View combined sample_62.variant24 7 . 132719268 213.88 CT... CT... PASS 0/5 15 None None None None None None None None None CHCHD3|0.780649095|6.3%
View combined sample_62.variant24 8 . 74213277 300.09 CT... CT... PASS 0/5 14 None None None None None None None None None RDH10|0.502683776|15.72%
View combined sample_62.variant24 9 rs3045544
dbSNP Clinvar
84267021 510.01 TAC TA... PASS 0/5 24 None None None None None None None None None TLE1|0.907652554|3.29%
View combined sample_62.variant24 10 . 47088385 242.86 T TG... PASS 0/5 25 None None None None None None None None None None
View combined sample_62.variant24 10 rs143655538
dbSNP Clinvar
126674850 651.96 GC... GC... PASS 0/5 164 None None None 0.78734 0.78730 None None None None None None ZRANB1|0.297372446|27.85%
View combined sample_62.variant24 11 . 25102575 39.07 ATT AT... PASS 0/5 19 None None None None None None None None None LUZP2|0.078859085|55.46%
View combined sample_62.variant24 11 . 26655627 311.68 CA CA... PASS 0/5 14 None None None None None None None None None ANO3|0.315688772|26.37%
View combined sample_62.variant24 11 . 48186110 277.64 AT... AT... PASS 0/5 20 None None None None None None None None None PTPRJ|0.001744449|91.7%
View combined sample_62.variant24 11 . 125448376 112.27 CTTTT CT... PASS 0/5 16 None None None None None None None None None EI24|0.31494271|26.44%
View combined sample_62.variant24 12 rs59863032
dbSNP Clinvar
48414009 249.41 CT CT... PASS 0/5 39 None None None None None None None None None None
View combined sample_62.variant24 13 . 27998074 99.33 CT... CT... PASS 0/5 9 None None None None None None None None None None
View combined sample_62.variant24 14 . 23440324 192.25 CA... CA... PASS 0/5 14 None None None None None None None None None None
View combined sample_62.variant24 16 rs758915094,rs869169091
dbSNP Clinvar
8986463 343.28 TA... TA... PASS 0/5 19 None None None None None None None None None USP7|0.774291764|6.46%
View combined sample_62.variant24 16 . 9854231 51.22 AT... AT... PASS 0/5 47 None None None None None None None None None GRIN2A|0.560581536|13.34%
View combined sample_62.variant24 17 rs756614244
dbSNP Clinvar
30519351 734.26 CTTTT CT... PASS 0/5 49 None None None None None None None None None RHOT1|0.726362207|7.79%
View combined sample_62.variant24 18 . 21124907 630.97 AC AC... PASS 0/5 72 None None None None None None None None None NPC1|0.141724211|44.18%
View combined sample_62.variant24 22 rs71679890,rs529542864
dbSNP Clinvar
31971071 413.64 CG... CG... PASS 0/5 7 None None None None None None None None None SFI1|0.009882452|80.95%
View combined sample_62.variant24 X rs58394778
dbSNP Clinvar
24536954 165.25 GC... GC... PASS 0/5 7 None None None None None None None None None PDK3|0.302411039|27.46%
View combined sample_62.variant24 1 rs56952565
dbSNP Clinvar
38462387 89.74 AA... AA... PASS 0/5 5 None None None None None None None None None None
View combined sample_62.variant24 1 . 48762797 343.1 GG... GG... PASS 0/5 120 None None None None None None None None None SPATA6|0.253984716|31.22%
View combined sample_62.variant24 1 . 156949153 121.2 CTTTT CT... PASS 0/5 29 None None None None None None None None None ARHGEF11|0.107056542|49.78%
View combined sample_62.variant24 1 . 173905652 190.89 CAAAA CA... PASS 0/5 30 None None None None None None None None None RC3H1|0.457179013|17.8%
View combined sample_62.variant24 1 . 182569291 42.85 AT... AT... PASS 0/5 16 None None None None None None None None None RGS16|0.06020516|59.8%
View combined sample_62.variant24 1 . 247287297 70.4 A AT... PASS 0/5 28 None None None None None None None None None ZNF124|0.001541214|92.57%
View combined sample_62.variant24 2 rs200229465,rs767432231,rs557057155
dbSNP Clinvar
32534750 127.49 CT... CT... PASS 0/5 16 None None None 0.65535 0.65540 None None None None None None YIPF4|0.210582677|35.5%
View combined sample_62.variant24 2 . 128941511 32.57 TG... TG... PASS 0/5 7 None None None None None None None None None UGGT1|0.159062304|41.71%
View combined sample_62.variant24 2 rs142260263
dbSNP Clinvar
135603079 118.86 GT... GT... PASS 0/5 7 None None None None None None None None None ACMSD|0.33638393|25.06%
View combined sample_62.variant24 2 . 182541839 68.79 AT... AT... PASS 0/5 13 None None None None None None None None None CERKL|0.162317398|41.25%,NEUROD1|0.993003191|0.95%
View combined sample_62.variant24 3 rs869277612,rs533596688
dbSNP Clinvar
54952359 621.11 CTTTT CT... PASS 0/5 78 None None None None None None None None None CACNA2D3|0.956528589|2.05%,LRTM1|0.033026592|68.14%
View combined sample_62.variant24 3 . 154858199 111.4 CT... CT... PASS 0/5 12 None None None None None None None None None MME|0.543919168|14.04%
View combined sample_62.variant24 4 . 56298641 468.69 CTT CT... PASS 0/5 36 None None None None None None None None None TMEM165|0.104313553|50.37%,CLOCK|0.729300056|7.68%
View combined sample_62.variant24 4 . 84011680 44.26 CAAAA CA... PASS 0/5 5 None None None None None None None None None PLAC8|0.020315127|74.02%
View combined sample_62.variant24 4 . 109810573 278.04 AT... AT... PASS 0/5 19 None None None None None None None None None COL25A1|0.612068275|11.4%
View combined sample_62.variant24 4 . 152025591 381.63 GT... GT... PASS 0/5 14 None None None None None None None None None RPS3A|0.389316542|21.45%,SH3D19|0.131705972|45.65%
View combined sample_62.variant24 4 . 186283991 61.04 CTT CT... PASS 0/5 11 None None None None None None None None None SNX25|0.217218036|34.69%
View combined sample_62.variant24 5 rs748690607
dbSNP Clinvar
4095679 92.72 TTTTC TT... PASS 0/5 17 None None None None None None None None None None
View combined sample_62.variant24 5 rs149827871
dbSNP Clinvar
81550718 4106.45 AGT AG... PASS 0/5 136 None None None None None None None None None ATG10|0.133054505|45.45%
View combined sample_62.variant24 6 . 79650265 533.58 GT... GT... PASS 0/5 74 None None None None None None None None None IRAK1BP1|0.071304062|57.14%,PHIP|0.581160251|12.52%
View combined sample_62.variant24 7 . 42187734 163.24 GC... GC... PASS 0/5 13 None None None None None None None None None GLI3|0.399227433|20.82%
View combined sample_62.variant24 7 rs148551048
dbSNP Clinvar
43400656 82.44 CG... CG... PASS 0/5 7 None None None None None None None None None HECW1|0.293834197|28.13%
View combined sample_62.variant24 8 rs60062081
dbSNP Clinvar
22477930 237.73 GTTT GT... PASS 0/5 25 SPLICE_SITE_REGION LOW None None None None None None None CCAR2|0.363674682|23.18%
View combined sample_62.variant24 8 . 101716282 46.23 CAAAA CA... PASS 0/5 9 None None None None None None None None None PABPC1|0.793315578|6.01%
View combined sample_62.variant24 9 rs368204817,rs557548970
dbSNP Clinvar
132590062 76.77 CTTTT CT... PASS 0/5 56 None None None None None None None None None C9orf78|0.212670769|35.28%
View combined sample_62.variant24 9 rs774757899
dbSNP Clinvar
139302015 942.11 TAAAA TA... PASS 0/5 24 None None None None None None None None None SDCCAG3|0.028543555|70.16%