| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CACNA1B_chr9_137872782_138129619 | 138088959 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG03492.hp1 NA18947.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0011others(1): Show | a0001c0002t0021a0002c0001t0002a0002c0011t0002others(1): Show | a0001c0002t0021g0075a0002c0001t0002g0190a0002c0011t0002g0172others(5): Show | 8 | 248 | 0.0323 | -17 | c.509 others(36): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1B_chr9_137872782_138129619 | 138099618 | CGTGCCTG others(10): Show |
C | intron_variant | MODIFIER | HG02683.hp1 HG03688.hp1 HG03834.hp2 others(1): Show |
a0001 | a0001c0013a0001c0018 | a0001c0013t0009a0001c0013t0027a0001c0018t0009 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(1): Show | 4 | 248 | 0.0161 | -17 | c.522 others(36): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2572547 | CCCTCCTC others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG01993.hp2 HG02055.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0029a0001c0003t0009a0001c0003t0018others(8): Show | a0001c0002t0029g0037a0001c0003t0009g0085a0001c0003t0018g0068others(8): Show | 11 | 104 | 0.1058 | -17 | c.189 others(36): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53679270 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0035 | 1 | 210 | 0.0048 | -17 | c.122 others(36): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1181945 | CCCCCTCG others(10): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0032 | a0032c0071 | a0032c0071t0001 | a0032c0071t0001g0310 | 1 | 338 | 0.0030 | -17 | c.300 others(36): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1189397 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0008 | a0008c0059 | a0008c0059t0003 | a0008c0059t0003g0020 | 1 | 338 | 0.0030 | -17 | c.300 others(34): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1198247 | ACCTGCCG others(10): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02738.hp1 |
a0074a0075 | a0074c0120a0075c0119 | a0074c0120t0037a0075c0119t0001 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | 338 | 0.0059 | -17 | c.644 others(32): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1I_chr22_39565753_39694735 | 39616771 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(56): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0001c0014others(16): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(31): Show | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(56): Show | 59 | 236 | 0.2500 | -17 | c.483 others(34): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CACNA1I_chr22_39565753_39694735 | 39657677 | TGTGAGGG others(10): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01934.hp2 others(7): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0022a0002c0013others(3): Show | a0001c0001t0008a0001c0022t0032a0002c0013t0012others(5): Show | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(7): Show | 10 | 236 | 0.0424 | -17 | c.199 others(34): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CACNA1S_chr1_201034512_201117426 | 201047920 | CCCCAGGC others(10): Show |
C | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 314 | 0.0032 | -17 | c.444 others(34): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | TogoVar | ||||||
| CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02895.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0012a0001c0001t0001g0068a0001c0001t0012g0127 | 3 | 144 | 0.0208 | -17 | c.527 others(36): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
| CACNA2D1_chr7_81941444_82448777 | 82181041 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0135 | 1 | 144 | 0.0069 | -17 | c.295 others(36): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
| CACNA2D1_chr7_81941444_82448777 | 82253141 | GATTTGAC others(10): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02818.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0020a0001c0004t0006 | a0001c0001t0002g0097a0001c0001t0020g0114a0001c0004t0006g0104 | 3 | 144 | 0.0208 | -17 | c.294 others(36): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
| CACNA2D3_chr3_54117552_55079557 | 54265599 | GTATATAT others(10): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0045a0001c0001t0001g0083a0001c0002t0001g0020others(12): Show | 15 | 118 | 0.1271 | -17 | c.205 others(36): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54350969 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0041 | 1 | 118 | 0.0085 | -17 | c.321 others(36): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54451229 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0008 | 1 | 118 | 0.0085 | -17 | c.382 others(36): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54668786 | ATGCAGCC others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0061a0001c0002t0001g0060 | 2 | 118 | 0.0170 | -17 | c.116 others(38): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01169.hp1 HG01255.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0003others(1): Show | a0001c0001t0001g0046a0001c0002t0001g0012a0001c0002t0001g0070others(2): Show | 5 | 118 | 0.0424 | -17 | c.138 others(36): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D4_chr12_1786963_1923652 | 1816437 | TTCCTGCC others(10): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01952.hp2 others(16): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(13): Show | a0001c0001t0001g0112a0001c0001t0001g0151a0001c0001t0001g0166others(16): Show | 19 | 318 | 0.0598 | -17 | c.255 others(36): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | ||||||
| CACNB2_chr10_18135424_18548557 | 18394144 | ATTGGCCA others(10): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0032a0001c0001t0001g0037others(59): Show | 62 | 200 | 0.3100 | -17 | c.214 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18438002 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01943.hp1 HG04199.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005a0001c0002t0017others(1): Show | a0001c0001t0003g0047a0001c0002t0005g0038a0001c0002t0005g0057others(4): Show | 7 | 200 | 0.0350 | -17 | c.333 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18472221 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01943.hp1 HG04199.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005a0001c0002t0058 | a0001c0001t0003g0047a0001c0002t0005g0038a0001c0002t0005g0057others(2): Show | 5 | 200 | 0.0250 | -17 | c.334 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18481218 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0180 | 1 | 200 | 0.0050 | -17 | c.334 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18502689 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0191a0001c0001t0023g0192 | 2 | 200 | 0.0100 | -17 | c.593 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18532685 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00642.hp1 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0010others(78): Show | 81 | 200 | 0.4050 | -17 | c.105 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18536258 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | NA18994.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0008a0001c0001t0004g0153 | 2 | 200 | 0.0100 | -17 | c.130 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
| CACNB2_chr10_18335709_18548557 | 18394144 | ATTGGCCA others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(85): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0024others(85): Show | 88 | 302 | 0.2914 | -17 | c.52- others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18438002 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp1 HG01943.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0223a0001c0001t0001g0284a0001c0001t0001g0299others(15): Show | 18 | 302 | 0.0596 | -17 | c.171 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18472221 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp1 HG01943.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(4): Show | a0001c0001t0001g0223a0001c0001t0001g0284a0001c0001t0003g0282others(13): Show | 16 | 302 | 0.0530 | -17 | c.172 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18481214 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0300 | 1 | 302 | 0.0033 | -17 | c.172 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18481218 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 1 | 302 | 0.0033 | -17 | c.172 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18502689 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0036a0001c0001t0022g0038 | 2 | 302 | 0.0066 | -17 | c.431 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18532680 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0122 | 1 | 302 | 0.0033 | -17 | c.893 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18532685 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(119): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(118): Show | 122 | 302 | 0.4040 | -17 | c.893 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18536258 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | NA18994.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149a0001c0001t0001g0174 | 2 | 302 | 0.0066 | -17 | c.114 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | chr10 | TogoVar | ||||||
| CACNG2_chr22_36555857_36708752 | 36559166 | TGCCATCT others(10): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0023a0001c0001t0031others(6): Show | a0001c0001t0019g0014a0001c0001t0019g0034a0001c0001t0023g0113others(8): Show | 11 | 214 | 0.0514 | -17 | c.*51 others(28): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1690 | chr22 | TogoVar | ||||||
| CACNG2_chr22_36555857_36708752 | 36645536 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(4): Show | a0001c0001t0001g0046a0001c0001t0001g0066a0001c0001t0007g0003others(5): Show | 8 | 214 | 0.0374 | -17 | c.211 others(36): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
| CACNG3_chr16_24251335_24367412 | 24257367 | GGGAGAGA others(10): Show |
G | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 366 | 0.0027 | -17 | c.211 others(32): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNG3_chr16_24251335_24367412 | 24257369 | GAGAGAGA others(10): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292a0001c0001t0001g0293a0001c0001t0001g0294others(3): Show | 6 | 366 | 0.0164 | -17 | c.211 others(32): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
| CACNG6_chr19_53986637_54017666 | 54004334 | TTTGTGTG others(10): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01192.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0004a0001c0001t0003g0028a0001c0001t0004g0023others(3): Show | 7 | 430 | 0.0163 | -17 | c.544 others(34): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNG6_chr19_53986637_54017666 | 54004336 | TGTGTGTG others(10): Show |
T | intron_variant | MODIFIER | HG03453.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0239a0001c0003t0002g0157 | 2 | 430 | 0.0047 | -17 | c.544 others(34): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115373592 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01255.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0002g0053a0001c0001t0002g0077a0001c0001t0004g0092others(7): Show | 10 | 164 | 0.0610 | -17 | c.124 others(38): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM2_chr3_84953989_86079429 | 85321114 | ATATTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02280.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0018 | a0001c0001t0002g0048a0001c0001t0004g0064a0001c0001t0018g0035 | 3 | 146 | 0.0206 | -17 | c.61+ others(36): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85321116 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02293.hp2 HG04204.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0018a0001c0001t0003g0040a0001c0001t0010g0146others(4): Show | 7 | 146 | 0.0480 | -17 | c.61+ others(36): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85768987 | CATATATA others(10): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0007 | a0001c0001t0020g0097a0001c0002t0007g0095 | 2 | 146 | 0.0137 | -17 | c.89- others(34): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85769014 | CATATATA others(10): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0016a0001c0002t0034others(2): Show | a0001c0002t0011g0012a0001c0002t0011g0140a0001c0002t0011g0143others(4): Show | 7 | 146 | 0.0480 | -17 | c.89- others(34): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85769175 | CATATATA others(10): Show |
C | intron_variant | MODIFIER | HG02293.hp1 HG02970.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0020 | a0001c0001t0001g0070a0001c0001t0005g0071a0001c0001t0020g0097 | 3 | 146 | 0.0206 | -17 | c.89- others(34): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85897241 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0144others(1): Show | 4 | 146 | 0.0274 | -17 | c.529 others(36): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADPS2_chr7_122313411_122891460 | 122399660 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0114 | 1 | 126 | 0.0079 | -17 | c.274 others(36): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 20/29 | chr7 | TogoVar | ||||||
| CADPS2_chr7_122313411_122891460 | 122717977 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0086 | 1 | 126 | 0.0079 | -17 | c.453 others(36): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar |