| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CACNA2D3_chr3_54117552_55079557 | 54821641 | GTTCTTTC others(13): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 118 | 0.0085 | -20 | c.139 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54822824 | TTTCTTTC others(13): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG03453.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0039a0001c0007t0001g0043a0001c0007t0001g0067 | 3 | 118 | 0.0254 | -20 | c.139 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54871043 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG02895.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0045a0001c0002t0001g0115a0001c0004t0001g0095 | 3 | 118 | 0.0254 | -20 | c.162 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54898162 | CTTTCTTT others(13): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01884.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0033a0001c0002t0001g0115a0001c0008t0001g0074others(3): Show | 6 | 118 | 0.0509 | -20 | c.236 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54933043 | CCATCCCT others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0005t0003a0001c0007t0001 | a0001c0001t0001g0034a0001c0001t0001g0104a0001c0005t0003g0055others(1): Show | 4 | 118 | 0.0339 | -20 | c.244 others(41): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54933051 | CCCTTCCT others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01243.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0001g0029others(7): Show | 10 | 118 | 0.0848 | -20 | c.244 others(41): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54993885 | AGTGTGTG others(13): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0007a0001c0022 | a0001c0001t0001a0001c0007t0001a0001c0022t0001 | a0001c0001t0001g0104a0001c0007t0001g0067a0001c0022t0001g0041 | 3 | 118 | 0.0254 | -20 | c.269 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 55038864 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02630.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0033a0001c0001t0001g0045a0001c0001t0001g0053others(12): Show | 15 | 118 | 0.1271 | -20 | c.298 others(41): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 55074207 | CACTGACT others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG01258.hp1 HG02109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(8): Show | a0001c0001t0002g0003a0001c0001t0012g0063a0001c0002t0002g0066others(9): Show | 12 | 118 | 0.1017 | -20 | c.*22 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 38/38 | 22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| CACNB2_chr10_18135424_18548557 | 18181562 | TTTTTATT others(13): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01243.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0025a0001c0001t0001g0079a0001c0001t0001g0117others(18): Show | 21 | 200 | 0.1050 | -20 | c.213 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18220110 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01243.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0033a0001c0001t0003g0026others(29): Show | 32 | 200 | 0.1600 | -20 | c.213 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18358533 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG01358.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0132a0001c0001t0003g0080 | 2 | 200 | 0.0100 | -20 | c.214 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18481214 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00423.hp1 NA18989.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0058 | a0001c0002t0005g0118a0001c0002t0058g0159 | 2 | 200 | 0.0100 | -20 | c.334 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18502689 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0039 | 1 | 200 | 0.0050 | -20 | c.593 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18522877 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(11): Show | a0001c0001t0001g0114a0001c0002t0002g0004a0001c0002t0002g0035others(43): Show | 46 | 200 | 0.2300 | -20 | c.944 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18358533 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG01358.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0192a0001c0001t0003g0294 | 2 | 302 | 0.0066 | -20 | c.51+ others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18481192 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0243a0001c0001t0003g0244 | 2 | 302 | 0.0066 | -20 | c.172 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18481212 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0089 | 1 | 302 | 0.0033 | -20 | c.172 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18481214 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00423.hp1 NA18989.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0041 | a0001c0002t0004g0283a0001c0002t0041g0150 | 2 | 302 | 0.0066 | -20 | c.172 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18502689 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0026 | 1 | 302 | 0.0033 | -20 | c.431 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18522877 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(78): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(16): Show | a0001c0001t0001g0134a0001c0002t0002g0009a0001c0002t0002g0016others(78): Show | 81 | 302 | 0.2682 | -20 | c.782 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB4_chr2_151827771_152104044 | 151877038 | TCTATATA others(13): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 | 1 | 230 | 0.0044 | -20 | c.391 others(35): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
| CACNB4_chr2_151827771_152104044 | 151877058 | GCTATATA others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00642.hp1 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0025a0001c0001t0001g0165a0001c0001t0001g0173others(67): Show | 70 | 230 | 0.3044 | -20 | c.391 others(35): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
| CACNG2_chr22_36555857_36708752 | 36679181 | CCTTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0037a0001c0001t0002g0054a0001c0001t0002g0072others(9): Show | 12 | 214 | 0.0561 | -20 | c.211 others(39): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
| CACNG3_chr16_24251335_24367412 | 24257368 | GGAGAGAG others(13): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02165.hp1 HG02486.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0001g0271others(10): Show | 13 | 366 | 0.0355 | -20 | c.211 others(35): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNG3_chr16_24251335_24367412 | 24317554 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0013 | 2 | 366 | 0.0055 | -20 | c.212 others(39): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNG6_chr19_53986637_54017666 | 54015333 | CCCTTCCT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01106.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0268a0001c0001t0002g0369a0001c0001t0003g0004others(15): Show | 19 | 430 | 0.0442 | -20 | c.*31 others(31): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 2668 | chr19 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115328713 | TGTGTATA others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0162 | 1 | 164 | 0.0061 | -20 | c.125 others(39): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115400661 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0019a0001c0001t0051 | a0001c0001t0011g0006a0001c0001t0019g0028a0001c0001t0051g0027 | 3 | 164 | 0.0183 | -20 | c.124 others(41): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115407873 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0162 | 1 | 164 | 0.0061 | -20 | c.124 others(39): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM2_chr3_84953989_86079429 | 84982702 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0124 | 1 | 146 | 0.0069 | -20 | c.61+ others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85212812 | CTCTTTCT others(13): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0140 | 1 | 146 | 0.0069 | -20 | c.61+ others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85321114 | ATATTTTT others(13): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02129.hp2 HG03927.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0001c0001t0030a0002c0005t0004 | a0001c0001t0004g0117a0001c0001t0030g0116a0002c0005t0004g0058 | 3 | 146 | 0.0206 | -20 | c.61+ others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85321116 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01175.hp1 HG01981.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(5): Show | a0001c0001t0002g0023a0001c0001t0005g0061a0001c0001t0005g0120others(7): Show | 10 | 146 | 0.0685 | -20 | c.61+ others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85347608 | AAAATATA others(13): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0096 | 1 | 146 | 0.0069 | -20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85427160 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0080others(30): Show | 33 | 146 | 0.2260 | -20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85442588 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0070others(34): Show | 37 | 146 | 0.2534 | -20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85601157 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01361.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0047a0001c0001t0002g0136a0001c0001t0004g0064others(13): Show | 16 | 146 | 0.1096 | -20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85601159 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG03704.hp2 HG03927.hp2 HG04199.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0003a0001c0001t0004a0002c0005t0004 | a0001c0001t0003g0050a0001c0001t0004g0053a0001c0001t0004g0075others(1): Show | 4 | 146 | 0.0274 | -20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85701971 | CATAGATA others(13): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02451.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0023a0001c0001t0014g0021a0001c0001t0014g0118 | 3 | 146 | 0.0206 | -20 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85809658 | CCCTTCCT others(13): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG03195.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0002t0007others(3): Show | a0001c0001t0004g0105a0001c0001t0009g0008a0001c0001t0009g0037others(5): Show | 8 | 146 | 0.0548 | -20 | c.238 others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADM2_chr3_84953989_86079429 | 85897241 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02895.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0061a0001c0001t0007g0059 | 2 | 146 | 0.0137 | -20 | c.529 others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CADPS2_chr7_122313411_122891460 | 122323873 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG01952.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0003a0001c0003t0001others(1): Show | a0001c0001t0003g0022a0001c0001t0003g0024a0001c0001t0003g0031others(10): Show | 13 | 126 | 0.1032 | -20 | c.371 others(39): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 29/29 | chr7 | TogoVar | ||||||
| CADPS2_chr7_122313411_122891460 | 122399660 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG02080.hp2 HG02280.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0002others(1): Show | a0001c0001t0001g0001a0001c0003t0001g0046a0001c0003t0001g0110others(2): Show | 5 | 126 | 0.0397 | -20 | c.274 others(39): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 20/29 | chr7 | TogoVar | ||||||
| CADPS2_chr7_122313411_122891460 | 122476996 | GGGAGAGG others(13): Show |
G | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 126 | 0.0079 | -20 | c.186 others(39): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 12/29 | chr7 | TogoVar | ||||||
| CADPS2_chr7_122313411_122891460 | 122541847 | TCATATAT others(13): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01192.hp1 HG01952.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0063a0001c0001t0002g0030a0001c0001t0002g0048others(10): Show | 13 | 126 | 0.1032 | -20 | c.147 others(41): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 8/29 | chr7 | TogoVar | ||||||
| CADPS2_chr7_122313411_122891460 | 122708520 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG03942.hp1 NA18946.hp1 NA18984.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0002 | a0001c0001t0002g0020a0001c0001t0002g0030a0001c0001t0002g0064others(2): Show | 5 | 126 | 0.0397 | -20 | c.453 others(39): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
| CADPS2_chr7_122313411_122891460 | 122878639 | CAAATAAA others(13): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 126 | 0.0079 | -20 | c.339 others(37): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 1/29 | chr7 | TogoVar | ||||||
| CADPS_chr3_62393348_62880416 | 62556994 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0144a0001c0001t0001g0145 | 3 | 160 | 0.0188 | -20 | c.175 others(37): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 10/29 | chr3 | TogoVar | ||||||
| CADPS_chr3_62393348_62880416 | 62596088 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0035others(22): Show | 25 | 160 | 0.1563 | -20 | c.132 others(39): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 6/29 | chr3 | TogoVar |