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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1B_chr9_137872782_138129619 | 137972169 | G | GGGGCCAG others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02976.hp1 NA20752.hp2 |
a0002a0004 | a0002c0024a0004c0023 | a0002c0024t0011a0004c0023t0008 | a0002c0024t0011g0160 a0002c0024t0011g0162 a0004c0023t0008g0077 |
3 | 246 | 0.0122 | 49 | c.154 others(66): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(42): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03688.hp1 |
a0005a0009 | a0005c0056a0009c0076 | a0005c0056t0035a0009c0076t0006 | a0005c0056t0035g0223 a0009c0076t0006g0064 |
2 | 309 | 0.0065 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(42): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0066 | 1 | 308 | 0.0032 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(42): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 NA18954.hp2 |
a0002a0004a0054 | a0002c0039a0004c0006a0054c0042 | a0002c0039t0003a0004c0006t0001a0054c0042t0003 | a0002c0039t0003g0228 a0004c0006t0001g0304 a0054c0042t0003g0229 |
3 | 105 | 0.0286 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(42): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0222 | 1 | 103 | 0.0097 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(42): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show |
a0002a0013a0015 | a0002c0010a0013c0026a0015c0017 | a0002c0010t0001a0013c0026t0003a0015c0017t0003 | a0002c0010t0001g0019 a0013c0026t0003g0148 a0015c0017t0003g0146 others(2): Show |
5 | 107 | 0.0467 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185703 | T | TCGGCATG others(42): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0108 | a0002c0108t0025 | a0002c0108t0025g0143 | 1 | 332 | 0.0030 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185711 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0022 | a0022c0066 | a0022c0066t0023 | a0022c0066t0023g0231 | 1 | 309 | 0.0032 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185711 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG02080.hp2 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0007a0002c0025others(3): Show | a0001c0001t0001a0002c0007t0003a0002c0025t0001others(4): Show | a0001c0001t0001g0230 a0001c0001t0001g0294 a0001c0001t0001g0313 others(9): Show |
12 | 320 | 0.0375 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185738 | G | GGGGCAGG others(42): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0066 | 1 | 8 | 0.1250 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185766 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG02027.hp2 others(12): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0007a0004c0006others(3): Show | a0001c0001t0001a0002c0007t0003a0004c0006t0001others(4): Show | a0001c0001t0001g0230 a0001c0001t0001g0294 a0001c0001t0001g0305 others(12): Show |
15 | 308 | 0.0487 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185766 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0059 | a0005c0059t0003 | a0005c0059t0003g0023 | 1 | 294 | 0.0034 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185820 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03453.hp1 |
a0002a0044 | a0002c0002a0044c0130 | a0002c0002t0024a0044c0130t0004 | a0002c0002t0024g0241 a0044c0130t0004g0315 |
2 | 294 | 0.0068 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185820 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG01099.hp1 others(21): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0007others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0007t0003others(10): Show | a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0001g0230 others(21): Show |
24 | 316 | 0.0759 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185836 | G | GGGGTGTG others(42): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0050 | a0050c0128 | a0050c0128t0037 | a0050c0128t0037g0013 | 1 | 330 | 0.0030 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1191190 | C | CTCTGACC others(42): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0051 | a0051c0061 | a0051c0061t0002 | a0051c0061t0002g0330 | 1 | 321 | 0.0031 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1199325 | T | TCATGGCT others(42): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02809.hp2 HG02922.hp1 others(3): Show |
a0002a0003a0047others(1): Show | a0002c0011a0003c0068a0047c0069others(1): Show | a0002c0011t0001a0002c0011t0002a0003c0068t0004others(2): Show | a0002c0011t0001g0289 a0002c0011t0002g0200 a0002c0011t0002g0202 others(3): Show |
6 | 336 | 0.0179 | 49 | c.803 others(64): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1199391 | T | TGCGGTCG others(42): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02738.hp1 |
a0038a0057 | a0038c0119a0057c0120 | a0038c0119t0001a0057c0120t0034 | a0038c0119t0001g0306 a0057c0120t0034g0089 |
2 | 335 | 0.0060 | 49 | c.803 others(64): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39653035 | T | TCCCCCCA others(42): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0157 a0001c0018t0002g0158 |
2 | 234 | 0.0085 | 49 | c.199 others(68): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39653046 | G | GGTGGCTA others(42): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0004 | a0004c0006 | a0004c0006t0016 | a0004c0006t0016g0191 | 1 | 223 | 0.0045 | 49 | c.199 others(68): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39653144 | A | AGTGGCTA others(42): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0049 | a0004c0049t0040 | a0004c0049t0040g0182 | 1 | 117 | 0.0085 | 49 | c.199 others(68): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1818170 | G | GCAGCCGC others(42): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001a0005 | a0001c0005a0001c0017a0005c0038 | a0001c0005t0001a0001c0017t0001a0005c0038t0001 | a0001c0005t0001g0255 a0001c0017t0001g0283 a0001c0017t0001g0284 others(1): Show |
4 | 315 | 0.0127 | 49 | c.255 others(68): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151875939 | A | ACCTCCCG others(42): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 227 | 0.0044 | 49 | c.521 others(64): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151875950 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 others(174): Show |
177 | 198 | 0.8939 | 49 | c.521 others(64): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151875950 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0185 | 1 | 22 | 0.0455 | 49 | c.521 others(64): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0028 | 1 | 14 | 0.0714 | 49 | c.244 others(66): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44588790 | T | TGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 188 | 0.0053 | 49 | c.377 others(70): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44588790 | T | TGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0127 others(7): Show |
10 | 197 | 0.0508 | 49 | c.377 others(70): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44588808 | G | GTCCGGGA others(42): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 127 | 0.0079 | 49 | c.377 others(70): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44588808 | G | GTCCGGGA others(42): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0048 others(68): Show |
71 | 197 | 0.3604 | 49 | c.377 others(70): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135847892 | G | GAGGGGAG others(42): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(93): Show |
a0001a0006a0011 | a0001c0001a0001c0002a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(23): Show | a0001c0001t0001g0147 a0001c0001t0002g0001 a0001c0001t0002g0025 others(92): Show |
96 | 290 | 0.3310 | 49 | c.104 others(68): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7114745 | C | CTGAGTCC others(42): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03486.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0015 | a0001c0001t0004g0026 a0001c0001t0008g0003 a0001c0001t0015g0037 |
3 | 37 | 0.0811 | 49 | c.302 others(68): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7115481 | T | TGAGTCCG others(42): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03453.hp1 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0002a0001c0017t0026 | a0001c0002t0002g0016 a0001c0017t0026g0027 |
2 | 58 | 0.0345 | 49 | c.302 others(68): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7115550 | A | ACCAGGAG others(42): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0002a0001c0002t0004a0001c0017t0026 | a0001c0002t0002g0016 a0001c0002t0004g0030 a0001c0017t0026g0027 |
3 | 58 | 0.0517 | 49 | c.302 others(68): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181574 | C | CCACACTC others(42): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 23 | 0.0870 | 49 | c.193 others(66): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30758809 | T | TCCCTCCC others(42): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02976.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0004g0095 |
3 | 334 | 0.0090 | 49 | c.775 others(64): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80193308 | G | GCCCTGGC others(42): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01258.hp1 others(12): Show |
a0002a0003a0004others(2): Show | a0002c0017a0002c0046a0003c0044others(3): Show | a0002c0017t0001a0002c0046t0001a0003c0044t0006others(4): Show | a0002c0017t0001g0119 a0002c0046t0001g0133 a0003c0044t0006g0129 others(11): Show |
15 | 373 | 0.0402 | 49 | c.135 others(66): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 12/23 | chr17 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80193321 | C | CAGTCCCC others(42): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01070.hp1 others(50): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0007a0001c0025others(14): Show | a0001c0001t0002a0001c0007t0002a0001c0007t0004others(17): Show | a0001c0001t0002g0256 a0001c0007t0002g0011 a0001c0007t0002g0024 others(49): Show |
53 | 290 | 0.1828 | 49 | c.135 others(66): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80193341 | C | CCAGGGGA others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(31): Show |
a0001a0002a0004others(4): Show | a0001c0012a0002c0002a0004c0003others(7): Show | a0001c0012t0001a0002c0002t0001a0004c0003t0001others(9): Show | a0001c0012t0001g0111 a0001c0012t0001g0321 a0001c0012t0001g0344 others(31): Show |
34 | 372 | 0.0914 | 49 | c.135 others(66): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80193351 | C | CGATTCAA others(42): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0333 | 1 | 374 | 0.0027 | 49 | c.135 others(66): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80193378 | A | AGACATGA others(42): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01167.hp1 others(48): Show |
a0001a0002a0003others(3): Show | a0001c0021a0001c0030a0002c0005others(7): Show | a0001c0021t0008a0001c0030t0004a0001c0030t0023others(15): Show | a0001c0021t0008g0047 a0001c0021t0008g0048 a0001c0021t0008g0049 others(47): Show |
51 | 233 | 0.2189 | 49 | c.135 others(66): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARTPT_chr5_71714275_71726045 | 71716413 | C | CTGGGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 472 | 0.0021 | 49 | c.-28 others(60): Show |
CARTPT | ENSG00000164326.5 | transcript | ENST00000296777.5 | protein_coding | 2861 | chr5 | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41612902 | G | GGCCAGCT others(42): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0019 | a0001c0005t0019g0015 | 1 | 162 | 0.0062 | 49 | c.103 others(68): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 11/26 | chrX | TogoVar | |||||||
CASP8_chr2_201255536_201292709 | 201283059 | C | CCACTCCC others(42): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058 | 1 | 383 | 0.0026 | 49 | c.803 others(66): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201283070 | C | CGGGGCGG others(42): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01168.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 a0001c0001t0005g0170 a0001c0001t0005g0172 |
3 | 330 | 0.0091 | 49 | c.803 others(66): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201283070 | C | CGGGGCGG others(42): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01175.hp2 HG01891.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 a0001c0001t0005g0027 a0001c0001t0005g0215 others(1): Show |
9 | 336 | 0.0268 | 49 | c.803 others(66): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201283070 | C | CGGGGCGG others(42): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02055.hp1 HG02258.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0004g0002 a0001c0001t0004g0020 a0001c0001t0004g0031 others(16): Show |
36 | 363 | 0.0992 | 49 | c.803 others(66): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88889972 | C | CGCCCCGC others(42): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 280 | 0.0036 | 49 | c.711 others(66): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CCDC105_chr19_15005726_15028276 | 15018715 | A | AATATATA others(42): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0176 | 1 | 249 | 0.0040 | 49 | c.676 others(66): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CCDC105_chr19_15005726_15028276 | 15018715 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0312 | 1 | 249 | 0.0040 | 49 | c.676 others(66): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | chr19 | TogoVar |