regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1F_chrX_49200063_49238340 | 49219765 | T | TTCC | disruptive_inframe_insertion | MODERATE | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(32): Show |
a0003a0004 | a0003c0004a0003c0029a0004c0005others(1): Show | a0003c0004t0001a0003c0029t0001a0004c0005t0001others(1): Show | a0003c0004t0001g0006a0003c0004t0001g0036a0003c0004t0001g0037others(21): Show | 35 | 290 | 0.1207 | 3 | c.240 others(12): Show |
p.Glu others(6): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 20/48 | 2442/6006 | 2411/5901 | 804/1966 | chrX | TogoVar | ||
CACNA1F_chrX_49200063_49238340 | 49223595 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(90): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0006a0001c0017others(10): Show | a0001c0002t0001a0001c0006t0001a0001c0017t0001others(10): Show | a0001c0002t0001g0002a0001c0002t0001g0008a0001c0002t0001g0015others(55): Show | 93 | 290 | 0.3207 | 3 | c.187 others(20): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 14/47 | chrX | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50565382 | T | TGAG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0055a0001c0002t0001g0113a0001c0005t0001g0054others(1): Show | 4 | 246 | 0.0163 | 3 | c.243 others(20): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1G_chr17_50555715_50632474 | 50565382 | T | TGGG | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01123.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0005t0003others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0166others(6): Show | 9 | 246 | 0.0366 | 3 | c.243 others(20): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1G_chr17_50555715_50632474 | 50623091 | C | CTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00738.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0007a0001c0008others(3): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(5): Show | a0001c0001t0001g0102a0001c0007t0001g0049a0001c0007t0001g0057others(16): Show | 19 | 246 | 0.0772 | 3 | c.606 others(20): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1G_chr17_50555715_50632474 | 50623263 | A | ATTT | intron_variant | MODIFIER | HG00642.hp2 HG01261.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0001a0001c0005t0002a0001c0006t0001others(2): Show | a0001c0003t0001g0105a0001c0003t0001g0119a0001c0003t0001g0234others(6): Show | 9 | 246 | 0.0366 | 3 | c.606 others(20): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1G_chr17_50555715_50632474 | 50624955 | C | CTTT | intron_variant | MODIFIER | HG02080.hp1 HG02886.hp2 HG03516.hp1 others(2): Show |
a0001a0002a0003 | a0001c0002a0002c0009a0003c0016 | a0001c0002t0002a0001c0002t0003a0002c0009t0001others(2): Show | a0001c0002t0002g0094a0001c0002t0003g0095a0002c0009t0001g0116others(2): Show | 5 | 246 | 0.0203 | 3 | c.639 others(20): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1168845 | T | TCCC | intron_variant | MODIFIER | HG01123.hp1 HG01257.hp2 HG02145.hp1 others(2): Show |
a0002a0055 | a0002c0002a0002c0008a0055c0110 | a0002c0002t0001a0002c0008t0001a0055c0110t0001 | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0002t0001g0009others(2): Show | 5 | 338 | 0.0148 | 3 | c.299 others(22): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185500 | G | GCCC | intron_variant | MODIFIER | HG01981.hp2 HG02280.hp2 HG02970.hp2 others(1): Show |
a0002a0008a0016others(1): Show | a0002c0008a0008c0023a0016c0026others(1): Show | a0002c0008t0019a0008c0023t0003a0016c0026t0008others(1): Show | a0002c0008t0019g0031a0008c0023t0003g0045a0016c0026t0008g0279others(1): Show | 4 | 338 | 0.0118 | 3 | c.300 others(20): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1189397 | C | CTTT | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01175.hp1 others(7): Show |
a0001a0002a0011others(4): Show | a0001c0040a0001c0094a0002c0007others(6): Show | a0001c0040t0001a0001c0094t0016a0002c0007t0003others(6): Show | a0001c0040t0001g0228a0001c0094t0016g0093a0002c0007t0003g0304others(7): Show | 10 | 338 | 0.0296 | 3 | c.300 others(20): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39585387 | T | TTTC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(74): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0009others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(74): Show | 77 | 236 | 0.3263 | 3 | c.237 others(22): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39585727 | G | GTTT | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00741.hp2 others(41): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0009others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0002g0162a0001c0001t0004g0065a0001c0001t0005g0050others(41): Show | 44 | 236 | 0.1864 | 3 | c.237 others(22): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39588128 | A | ATTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(16): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0052a0001c0002t0004a0001c0002t0031others(6): Show | a0001c0001t0052g0075a0001c0002t0004g0232a0001c0002t0031g0200others(16): Show | 19 | 236 | 0.0805 | 3 | c.237 others(22): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39596272 | T | TGGG | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(38): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0018others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0050others(18): Show | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0001t0003g0152others(38): Show | 41 | 236 | 0.1737 | 3 | c.237 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39598941 | G | GTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(53): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0009others(18): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(33): Show | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(53): Show | 56 | 236 | 0.2373 | 3 | c.348 others(18): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39609084 | G | GCCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0009others(47): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(107): Show | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | 236 | 0.8983 | 3 | c.482 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201113774 | C | CAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(56): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0055others(54): Show | 59 | 314 | 0.1879 | 3 | c.-14 others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1349 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81951969 | G | GTTT | intron_variant | MODIFIER | HG00639.hp2 HG02257.hp1 HG02886.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012 | a0001c0001t0007g0015a0001c0001t0007g0020a0001c0001t0007g0059others(7): Show | 10 | 144 | 0.0694 | 3 | c.316 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81980172 | C | CAAA | intron_variant | MODIFIER | HG00735.hp1 HG02027.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0007a0001c0001t0023others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0007g0059others(3): Show | 6 | 144 | 0.0417 | 3 | c.195 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 24/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82002021 | C | CAAA | intron_variant | MODIFIER | HG01169.hp1 HG02027.hp1 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0023others(1): Show | a0001c0001t0001g0035a0001c0001t0007g0020a0001c0001t0007g0059others(7): Show | 10 | 144 | 0.0694 | 3 | c.159 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 18/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82006028 | C | CATT | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0003 | a0001c0003t0001g0011a0001c0003t0001g0025a0001c0003t0001g0061others(3): Show | 6 | 144 | 0.0417 | 3 | c.144 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 16/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82012254 | G | GAAA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0036a0001c0001t0005g0105a0001c0001t0005g0106others(10): Show | 13 | 144 | 0.0903 | 3 | c.127 others(18): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 14/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82040452 | C | CAAA | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(31): Show | 34 | 144 | 0.2361 | 3 | c.880 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82056009 | T | TAAA | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01074.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0010a0001c0001t0002g0103a0001c0001t0002g0143others(32): Show | 35 | 144 | 0.2431 | 3 | c.879 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82060154 | T | TAAA | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0077a0001c0001t0009g0065a0001c0001t0009g0080others(1): Show | 4 | 144 | 0.0278 | 3 | c.879 others(18): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82060164 | T | TGTA | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0077a0001c0001t0009g0065a0001c0001t0009g0080others(1): Show | 4 | 144 | 0.0278 | 3 | c.879 others(18): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82060181 | A | ACCC | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0077a0001c0001t0009g0065a0001c0001t0009g0080others(1): Show | 4 | 144 | 0.0278 | 3 | c.879 others(18): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82060185 | A | AACT | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0077a0001c0001t0009g0065a0001c0001t0009g0080others(1): Show | 4 | 144 | 0.0278 | 3 | c.879 others(18): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82096635 | G | GTAT | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01069.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0037a0001c0001t0001g0038others(56): Show | 59 | 144 | 0.4097 | 3 | c.527 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82105398 | C | CTTT | intron_variant | MODIFIER | HG02572.hp1 HG02698.hp1 HG04184.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0010a0001c0001t0004g0050a0001c0001t0006g0115others(4): Show | 7 | 144 | 0.0486 | 3 | c.526 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82107586 | C | CTTT | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01167.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0058others(23): Show | 26 | 144 | 0.1806 | 3 | c.526 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82111445 | T | TATA | intron_variant | MODIFIER | HG00642.hp1 HG01258.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0103a0001c0001t0003g0034a0001c0001t0004g0046 | 3 | 144 | 0.0208 | 3 | c.526 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82130241 | T | TAAG | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00735.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0012a0001c0001t0001g0035a0001c0001t0001g0036others(44): Show | 47 | 144 | 0.3264 | 3 | c.396 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 5/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82139945 | C | CTAT | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0009a0001c0001t0002g0143a0001c0001t0003g0034others(14): Show | 17 | 144 | 0.1181 | 3 | c.355 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82140954 | T | TTAA | intron_variant | MODIFIER | HG02895.hp2 HG02922.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0012a0001c0001t0006g0138a0001c0001t0011g0066others(1): Show | 4 | 144 | 0.0278 | 3 | c.355 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82149796 | A | AAAG | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01169.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0087a0001c0001t0003g0039a0001c0001t0003g0051others(19): Show | 22 | 144 | 0.1528 | 3 | c.355 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82184169 | C | CTTT | intron_variant | MODIFIER | HG01496.hp1 HG02080.hp2 HG02148.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0003g0051a0001c0002t0001g0032a0001c0002t0001g0045others(3): Show | 6 | 144 | 0.0417 | 3 | c.295 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82220781 | C | CTTT | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0047a0001c0001t0005g0110others(5): Show | 8 | 144 | 0.0556 | 3 | c.295 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82258817 | C | CTTT | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0003g0013a0001c0001t0003g0016a0001c0001t0003g0076others(5): Show | 8 | 144 | 0.0556 | 3 | c.294 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82265416 | C | CTTT | intron_variant | MODIFIER | HG01071.hp2 HG01123.hp2 HG01169.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0035a0001c0001t0001g0038others(24): Show | 27 | 144 | 0.1875 | 3 | c.294 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82277745 | C | CTTT | intron_variant | MODIFIER | HG02109.hp1 HG02818.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0020a0001c0004t0006 | a0001c0001t0002g0097a0001c0001t0020g0114a0001c0004t0006g0104 | 3 | 144 | 0.0208 | 3 | c.294 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82278557 | T | TAAA | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01167.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0047a0001c0001t0002g0094others(10): Show | 13 | 144 | 0.0903 | 3 | c.294 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82280104 | A | AAAG | intron_variant | MODIFIER | HG02027.hp1 NA18952.hp1 NA18952.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0023others(1): Show | a0001c0001t0002g0141a0001c0001t0004g0042a0001c0001t0004g0071others(2): Show | 5 | 144 | 0.0347 | 3 | c.294 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82282702 | T | TGGG | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0070a0001c0001t0001g0087a0001c0001t0006g0138others(3): Show | 6 | 144 | 0.0417 | 3 | c.294 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82295341 | A | ATTT | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0020a0001c0003t0001others(3): Show | a0001c0001t0002g0097a0001c0001t0020g0114a0001c0003t0001g0011others(4): Show | 7 | 144 | 0.0486 | 3 | c.294 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82320578 | A | ATTT | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0010a0001c0001t0003g0034a0001c0001t0004g0046others(10): Show | 13 | 144 | 0.0903 | 3 | c.294 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82322451 | C | CAAA | intron_variant | MODIFIER | HG00621.hp2 HG01123.hp1 HG01261.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0049a0001c0001t0002g0129others(18): Show | 21 | 144 | 0.1458 | 3 | c.294 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82374786 | C | CAAA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0035others(27): Show | 30 | 144 | 0.2083 | 3 | c.96- others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82379224 | A | ACTC | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0068a0001c0001t0003g0067a0001c0002t0001g0063 | 3 | 144 | 0.0208 | 3 | c.96- others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82430417 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(27): Show | 30 | 144 | 0.2083 | 3 | c.95+ others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar |