view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAP1_chr1_40035729_40077648 | 40072769 | ACTT | A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0013a0001c0002t0015 | a0001c0002t0010g0046 a0001c0002t0010g0047 a0001c0002t0013g0048 others(2): Show |
9 | 378 | 0.0238 | -3 | c.*12 others(14): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 122 | chr1 | TogoVar | |||||||
CAP1_chr1_40035729_40077648 | 40074336 | CCTA | C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0013a0001c0002t0015 | a0001c0002t0010g0046 a0001c0002t0010g0047 a0001c0002t0013g0048 others(2): Show |
9 | 378 | 0.0238 | -3 | c.*28 others(14): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1689 | chr1 | TogoVar | |||||||
CAP1_chr1_40035729_40077648 | 40074429 | CGCT | C | downstream_gene_variant | MODIFIER | NA18956.hp1 NA18979.hp1 NA18993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0028 others(1): Show |
4 | 378 | 0.0106 | -3 | c.*28 others(14): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1782 | chr1 | TogoVar | |||||||
CAP1_chr1_40035729_40077648 | 40075958 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(86): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(60): Show |
89 | 378 | 0.2355 | -3 | c.*44 others(14): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 3311 | chr1 | TogoVar | |||||||
CAP2_chr6_17388595_17562780 | 17389877 | TCTC | T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00609.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(69): Show |
72 | 206 | 0.3495 | -3 | c.-38 others(14): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3717 | chr6 | TogoVar | |||||||
CAP2_chr6_17388595_17562780 | 17407778 | CAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01167.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(8): Show | a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0075 others(26): Show |
29 | 206 | 0.1408 | -3 | c.-1- others(20): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17435681 | TAAA | T | intron_variant | MODIFIER | HG02083.hp1 HG02486.hp2 HG03927.hp1 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0001 | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 others(4): Show |
7 | 206 | 0.0340 | -3 | c.222 others(20): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17435717 | TAAA | T | intron_variant | MODIFIER | HG01496.hp2 HG02280.hp2 HG03130.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0130 others(6): Show |
9 | 206 | 0.0437 | -3 | c.222 others(20): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17438355 | GATT | G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(138): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0052 others(138): Show |
141 | 206 | 0.6845 | -3 | c.222 others(22): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CAP2_chr6_17388595_17562780 | 17451221 | ATCT | A | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG02145.hp2 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0002t0001g0144 others(11): Show |
14 | 206 | 0.0680 | -3 | c.223 others(22): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17459739 | AATG | A | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG02145.hp2 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0002others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0001g0065 others(7): Show |
10 | 206 | 0.0485 | -3 | c.223 others(20): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17474185 | CTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01884.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0069 a0001c0001t0001g0099 a0001c0001t0001g0196 others(9): Show |
12 | 206 | 0.0583 | -3 | c.300 others(22): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17476864 | CTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 NA18939.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0123 a0001c0002t0001g0098 a0001c0002t0001g0146 others(2): Show |
5 | 206 | 0.0243 | -3 | c.300 others(22): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17479607 | ATTT | A | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(3): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 others(6): Show |
9 | 206 | 0.0437 | -3 | c.300 others(22): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17482507 | CAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02717.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0068 a0001c0003t0001g0084 a0001c0003t0001g0088 others(6): Show |
9 | 206 | 0.0437 | -3 | c.300 others(22): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17537602 | CTGT | C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0067 others(11): Show |
14 | 206 | 0.0680 | -3 | c.637 others(20): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17558592 | CTGA | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02135.hp1 HG02135.hp2 others(7): Show |
a0001a0002 | a0001c0006a0002c0005 | a0001c0006t0001a0002c0005t0001a0002c0005t0003others(1): Show | a0001c0006t0001g0017 a0001c0006t0001g0033 a0001c0006t0001g0120 others(7): Show |
10 | 206 | 0.0485 | -3 | c.*21 others(14): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 813 | chr6 | TogoVar | |||||||
CAPG_chr2_85389753_85415366 | 85392405 | AAAG | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(55): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0010 others(30): Show |
58 | 410 | 0.1415 | -3 | c.*24 others(14): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 2347 | chr2 | TogoVar | |||||||
CAPG_chr2_85389753_85415366 | 85403886 | CAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01099.hp2 others(27): Show |
a0001a0002a0003 | a0001c0003a0002c0011a0003c0004 | a0001c0003t0001a0002c0011t0001a0003c0004t0001 | a0001c0003t0001g0019 a0001c0003t0001g0082 a0001c0003t0001g0147 others(15): Show |
30 | 410 | 0.0732 | -3 | c.-13 others(20): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CAPG_chr2_85389753_85415366 | 85407712 | CAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01243.hp2 others(10): Show |
a0001a0002 | a0001c0003a0002c0011 | a0001c0003t0001a0002c0011t0001 | a0001c0003t0001g0019 a0001c0003t0001g0082 a0001c0003t0001g0147 others(7): Show |
13 | 410 | 0.0317 | -3 | c.-14 others(20): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CAPN10_chr2_240581734_240604104 | 240583409 | GTTC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(368): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(86): Show |
371 | 412 | 0.9005 | -3 | c.-35 others(14): Show |
CAPN10 | ENSG00000142330.20 | transcript | ENST00000391984.7 | protein_coding | 3324 | chr2 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44154679 | TCTC | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(225): Show |
a0000a0001a0002others(14): Show | a0000c0024a0001c0001a0001c0011others(16): Show | a0000c0024t0001a0001c0001t0001a0001c0001t0002others(28): Show | a0000c0024t0001g0025 a0001c0001t0001g0002 a0001c0001t0001g0017 others(218): Show |
228 | 460 | 0.4957 | -3 | c.-41 others(14): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 4140 | chr6 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44166873 | TTCC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(105): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0023 others(102): Show |
108 | 460 | 0.2348 | -3 | c.88+ others(14): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38728410 | GCTC | G | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01884.hp2 HG02280.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0020a0001c0002t0002a0001c0003t0002others(2): Show | a0001c0001t0020g0250 a0001c0002t0002g0166 a0001c0003t0002g0164 others(4): Show |
7 | 342 | 0.0205 | -3 | c.*24 others(14): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 1781 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38736019 | GTCT | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01981.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0002c0004t0001 | a0001c0001t0006g0251 a0001c0001t0006g0252 a0002c0004t0001g0076 |
3 | 342 | 0.0088 | -3 | c.158 others(18): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38745123 | CTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00733.hp2 others(16): Show |
a0001a0003a0024 | a0001c0006a0003c0005a0024c0018 | a0001c0006t0004a0003c0005t0004a0024c0018t0004 | a0001c0006t0004g0025 a0003c0005t0004g0018 a0003c0005t0004g0019 others(16): Show |
19 | 342 | 0.0556 | -3 | c.-96 others(12): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 650 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38749044 | CTAA | C | upstream_gene_variant | MODIFIER | HG02965.hp2 HG02970.hp2 HG03139.hp2 others(2): Show |
a0001a0018 | a0001c0001a0001c0003a0018c0023 | a0001c0001t0001a0001c0003t0001a0018c0023t0001 | a0001c0001t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 others(2): Show |
5 | 342 | 0.0146 | -3 | c.-48 others(14): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 4571 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30740082 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(192): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0049 others(189): Show |
195 | 384 | 0.5078 | -3 | c.153 others(22): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 15/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30745894 | ATTT | A | intron_variant | MODIFIER | HG00280.hp1 HG01192.hp2 HG01975.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0243 a0001c0002t0001g0106 a0001c0002t0002g0045 others(9): Show |
12 | 384 | 0.0313 | -3 | c.123 others(20): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 11/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30801640 | GAAA | G | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0267 others(1): Show |
4 | 384 | 0.0104 | -3 | c.-33 others(20): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30806402 | TAAC | T | intron_variant | MODIFIER | HG02280.hp2 HG02738.hp2 HG02922.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0267 a0001c0001t0002g0379 others(5): Show |
9 | 384 | 0.0234 | -3 | c.-33 others(18): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31199529 | TCTC | T | conservative_inframe_deletion others(1): Show |
MODERATE | NA18963.hp2 NA18979.hp2 NA18999.hp1 others(1): Show |
a0011 | a0011c0016 | a0011c0016t0002 | a0011c0016t0002g0034 a0011c0016t0002g0042 a0011c0016t0002g0043 others(1): Show |
4 | 326 | 0.0123 | -3 | c.727 others(10): Show |
p.Glu others(6): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 7/22 | 841/3792 | 727/2055 | 243/684 | chr2 | TogoVar | |||
CAPN14_chr2_31168056_31222515 | 31206035 | TTTA | T | intron_variant | MODIFIER | HG01358.hp2 HG01516.hp2 HG01517.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0004a0001c0003t0003a0001c0003t0004others(2): Show | a0001c0001t0004g0284 a0001c0001t0004g0286 a0001c0003t0003g0287 others(4): Show |
7 | 326 | 0.0215 | -3 | c.-52 others(18): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31214976 | GCAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(213): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0011others(26): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 others(197): Show |
216 | 326 | 0.6626 | -3 | c.-53 others(20): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544743 | ACGT | A | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(24): Show | a0001c0001t0001g0010 a0001c0001t0001g0165 a0001c0001t0001g0166 others(42): Show |
46 | 410 | 0.1122 | -3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544788 | ACGT | A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02055.hp1 others(10): Show |
a0001a0002a0008others(3): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(8): Show | a0001c0001t0001g0250 a0001c0001t0001g0301 a0001c0002t0001g0249 others(10): Show |
13 | 410 | 0.0317 | -3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN1_chr11_65176928_65217006 | 65179743 | CAGG | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(47): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0009 | a0001c0001t0001a0002c0003t0001a0006c0009t0001 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(32): Show |
50 | 394 | 0.1269 | -3 | c.-22 others(14): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 2184 | chr11 | TogoVar | |||||||
CAPN1_chr11_65176928_65217006 | 65193962 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(90): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0057 others(62): Show |
93 | 394 | 0.2360 | -3 | c.116 others(22): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223730405 | ATTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(249): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0131 a0001c0001t0001g0171 a0001c0001t0001g0187 others(247): Show |
252 | 378 | 0.6667 | -3 | c.307 others(22): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223745041 | CAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01069.hp1 others(105): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0007a0001c0010others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 others(103): Show |
108 | 378 | 0.2857 | -3 | c.427 others(18): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223767196 | TTTA | T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01891.hp2 others(33): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0007others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0003others(8): Show | a0001c0002t0001g0094 a0001c0002t0003g0001 a0001c0002t0003g0013 others(32): Show |
36 | 378 | 0.0952 | -3 | c.175 others(20): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223768698 | AAGT | A | intron_variant | MODIFIER | HG00609.hp1 HG02080.hp1 HG02083.hp1 others(14): Show |
a0001a0004a0009others(1): Show | a0001c0003a0004c0008a0009c0019others(2): Show | a0001c0003t0004a0004c0008t0004a0009c0019t0004others(2): Show | a0001c0003t0004g0362 a0004c0008t0004g0099 a0004c0008t0004g0105 others(14): Show |
17 | 378 | 0.0450 | -3 | c.175 others(22): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223776251 | AGAT | A | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01167.hp2 HG01243.hp2 others(31): Show |
a0001a0004a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0006a0001c0002t0006a0001c0003t0004others(7): Show | a0001c0001t0006g0270 a0001c0002t0006g0004 a0001c0002t0006g0075 others(30): Show |
34 | 378 | 0.0900 | -3 | c.*13 others(14): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 234 | chr1 | TogoVar | |||||||
CAPN3_chr15_42354501_42417317 | 42355197 | CTTT | C | upstream_gene_variant | MODIFIER | HG02717.hp1 HG02895.hp1 HG03098.hp1 others(6): Show |
a0002a0003a0008others(1): Show | a0002c0006a0003c0005a0008c0019others(1): Show | a0002c0006t0001a0003c0005t0001a0008c0019t0003others(1): Show | a0002c0006t0001g0002 a0002c0006t0001g0052 a0003c0005t0001g0012 others(6): Show |
9 | 306 | 0.0294 | -3 | c.-46 others(14): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 4303 | chr15 | TogoVar | |||||||
CAPN3_chr15_42354501_42417317 | 42374794 | CTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG01516.hp2 others(17): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0020a0002c0006others(6): Show | a0001c0003t0001a0001c0020t0001a0002c0006t0001others(6): Show | a0001c0003t0001g0034 a0001c0020t0001g0032 a0002c0006t0001g0002 others(16): Show |
20 | 306 | 0.0654 | -3 | c.310 others(20): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42380751 | ATTT | A | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG02572.hp1 others(6): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0003c0005t0001 | a0002c0002t0001g0025 a0002c0002t0001g0252 a0002c0002t0001g0293 others(6): Show |
9 | 306 | 0.0294 | -3 | c.310 others(20): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42415739 | GTTT | G | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG01109.hp1 others(29): Show |
a0001a0002a0016 | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0015t0001others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0217 others(29): Show |
32 | 306 | 0.1046 | -3 | c.*39 others(14): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 3423 | chr15 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77062184 | CTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(92): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0100 others(90): Show |
95 | 382 | 0.2487 | -3 | c.-49 others(14): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 4786 | chr11 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77106504 | TGTG | T | intron_variant | MODIFIER | HG00673.hp2 NA18982.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0183 a0001c0001t0006g0206 a0001c0001t0006g0219 |
3 | 382 | 0.0079 | -3 | c.298 others(20): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN6_chrX_111240099_111275483 | 111267307 | TGTG | T | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01891.hp2 others(35): Show |
a0002a0003a0006 | a0002c0002a0002c0003a0002c0005others(3): Show | a0002c0002t0006a0002c0002t0009a0002c0002t0016others(14): Show | a0002c0002t0006g0018 a0002c0002t0006g0040 a0002c0002t0009g0042 others(24): Show |
38 | 242 | 0.1570 | -3 | c.-16 others(20): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/12 | chrX | TogoVar |