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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CA5A_chr16_87883013_87941529 | 87892510 | A | AAATAAT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG02300.hp2 others(6): Show |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0001a0006c0016t0001 | a0001c0001t0001g0093 a0001c0001t0001g0147 a0001c0001t0001g0210 others(6): Show |
9 | 400 | 0.0225 | 6 | c.619 others(21): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CA5A_chr16_87883013_87941529 | 87901592 | C | CTTTTCT | intron_variant | MODIFIER | HG01175.hp2 HG02630.hp2 HG02723.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0006 | a0001c0001t0001a0002c0005t0001a0003c0006t0001 | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0069 others(11): Show |
14 | 400 | 0.0350 | 6 | c.618 others(21): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CA5B_chrX_15733270_15793411 | 15736131 | T | TAAAAAA | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 274 | 0.0037 | 6 | c.-22 others(17): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 2138 | chrX | TogoVar | |||||||
CA5B_chrX_15733270_15793411 | 15736436 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010 | a0001c0001t0001g0150 a0001c0001t0008g0024 a0001c0001t0008g0039 others(2): Show |
5 | 274 | 0.0183 | 6 | c.-19 others(17): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 1833 | chrX | TogoVar | |||||||
CA5B_chrX_15733270_15793411 | 15745183 | A | AAAAAAG | intron_variant | MODIFIER | HG01928.hp1 HG02080.hp1 HG02080.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0003g0029 a0001c0001t0005g0070 a0001c0001t0008g0024 others(12): Show |
16 | 274 | 0.0584 | 6 | c.-53 others(23): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CA5B_chrX_15733270_15793411 | 15759734 | C | CTTTTTT | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0043 |
3 | 274 | 0.0110 | 6 | c.143 others(23): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8956265 | G | GCCTGGC | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp2 NA18522.hp2 |
a0011 | a0011c0019 | a0011c0019t0006a0011c0019t0010 | a0011c0019t0006g0424 a0011c0019t0006g0425 a0011c0019t0010g0426 |
3 | 452 | 0.0066 | 6 | c.260 others(21): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8959931 | C | CAAAAAA | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG02809.hp2 others(5): Show |
a0002a0004 | a0002c0014a0002c0026a0004c0008others(1): Show | a0002c0014t0001a0002c0026t0001a0004c0008t0001others(2): Show | a0002c0014t0001g0134 a0002c0014t0001g0201 a0002c0014t0001g0263 others(5): Show |
8 | 452 | 0.0177 | 6 | c.501 others(21): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8973706 | C | CTTTCTT | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 HG03486.hp2 others(1): Show |
a0002a0004a0008 | a0002c0016a0002c0026a0004c0009others(1): Show | a0002c0016t0001a0002c0026t0001a0004c0009t0001others(1): Show | a0002c0016t0001g0323 a0002c0026t0001g0016 a0004c0009t0001g0207 others(1): Show |
4 | 452 | 0.0089 | 6 | c.845 others(21): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8973710 | C | CTCTCTT | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01175.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0001a0002c0014others(5): Show | a0001c0002t0001a0001c0002t0004a0002c0001t0001others(6): Show | a0001c0002t0001g0025 a0001c0002t0001g0233 a0001c0002t0001g0255 others(19): Show |
22 | 452 | 0.0487 | 6 | c.845 others(21): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8978672 | A | AAAAAAC | downstream_gene_variant | MODIFIER | HG01257.hp1 HG02040.hp2 NA18959.hp1 others(5): Show |
a0001a0002a0005 | a0001c0002a0002c0001a0005c0005 | a0001c0002t0001a0002c0001t0001a0005c0005t0001 | a0001c0002t0001g0366 a0001c0002t0001g0403 a0001c0002t0001g0418 others(5): Show |
8 | 452 | 0.0177 | 6 | c.*39 others(17): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 3581 | chr1 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60190938 | C | CTATATA | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0011a0001c0002t0038a0001c0006t0031 | a0001c0002t0011g0104 a0001c0002t0011g0116 a0001c0002t0011g0117 others(6): Show |
9 | 344 | 0.0262 | 6 | c.*36 others(21): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60192937 | G | GCACACA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0049others(7): Show | a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0233 others(32): Show |
35 | 344 | 0.1017 | 6 | c.*36 others(23): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60215358 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00639.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0206 others(78): Show |
84 | 344 | 0.2442 | 6 | c.739 others(23): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
CA9_chr9_35668928_35686159 | 35672759 | T | TTTTTTG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01168.hp2 HG01169.hp2 others(21): Show |
a0001a0004a0009 | a0001c0003a0004c0005a0009c0013 | a0001c0003t0001a0004c0005t0001a0004c0005t0003others(1): Show | a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0044 others(10): Show |
24 | 446 | 0.0538 | 6 | c.-12 others(17): Show |
CA9 | ENSG00000107159.14 | transcript | ENST00000378357.9 | protein_coding | 1168 | chr9 | TogoVar | |||||||
CAAP1_chr9_26835685_26897802 | 26847198 | A | ATTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01515.hp1 HG02280.hp2 others(9): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0133 a0001c0001t0001g0138 others(8): Show |
12 | 372 | 0.0323 | 6 | c.740 others(23): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49349455 | C | CATATAT | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 HG03209.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0309 a0001c0001t0002g0115 a0001c0001t0002g0141 others(4): Show |
7 | 324 | 0.0216 | 6 | c.564 others(23): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49351262 | T | TTGTGTG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0094 others(75): Show |
78 | 324 | 0.2407 | 6 | c.396 others(21): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49439921 | G | GTTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01192.hp2 HG01256.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0084 others(21): Show |
24 | 324 | 0.0741 | 6 | c.-24 others(25): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49441221 | G | GTATATA | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0111 a0001c0001t0001g0136 a0001c0001t0004g0008 |
3 | 324 | 0.0093 | 6 | c.-24 others(25): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49442804 | A | ACAAAAC | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 others(1): Show |
4 | 324 | 0.0124 | 6 | c.-24 others(25): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230727363 | C | CGTGTGT | intron_variant | MODIFIER | HG01106.hp2 HG01361.hp2 HG02015.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 others(6): Show |
9 | 342 | 0.0263 | 6 | c.-44 others(25): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230761888 | T | TTTGTTG | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01261.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0090 a0001c0001t0003g0181 a0001c0001t0003g0182 others(45): Show |
48 | 342 | 0.1404 | 6 | c.114 others(23): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230773312 | A | ATGTGTG | intron_variant | MODIFIER | HG06807.hp1 NA19058.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0029 | a0001c0001t0022g0146 a0001c0001t0022g0147 a0001c0001t0029g0002 |
3 | 342 | 0.0088 | 6 | c.114 others(25): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230773314 | A | ATATGTG | intron_variant | MODIFIER | HG01517.hp1 HG01934.hp1 HG02080.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0164 a0001c0001t0001g0255 others(36): Show |
39 | 342 | 0.1140 | 6 | c.114 others(25): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230773314 | A | ATGTGTG | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG00735.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0041 a0001c0001t0001g0157 a0001c0001t0001g0272 others(23): Show |
26 | 342 | 0.0760 | 6 | c.114 others(25): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230782809 | C | CTTTTTT | intron_variant | MODIFIER | HG01168.hp1 HG01256.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0018a0001c0001t0030others(1): Show | a0001c0001t0009g0241 a0001c0001t0018g0240 a0001c0001t0018g0243 others(2): Show |
5 | 342 | 0.0146 | 6 | c.115 others(23): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230782980 | T | TTTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01106.hp1 others(78): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(35): Show | a0001c0001t0002g0306 a0001c0001t0003g0180 a0001c0001t0003g0181 others(78): Show |
81 | 342 | 0.2368 | 6 | c.115 others(23): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230813978 | C | CTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01257.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 others(18): Show |
21 | 342 | 0.0614 | 6 | c.628 others(19): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230825154 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01070.hp2 others(64): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(64): Show |
67 | 342 | 0.1959 | 6 | c.*64 others(17): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 4080 | chr2 | TogoVar | |||||||
CABCOCO1_chr10_61657929_61771766 | 61679281 | T | TTATATC | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0109 others(48): Show |
53 | 374 | 0.1417 | 6 | c.165 others(23): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61679329 | C | CTATCTA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0030 others(67): Show |
71 | 374 | 0.1898 | 6 | c.165 others(23): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61682889 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01081.hp1 others(32): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0093 others(31): Show |
35 | 374 | 0.0936 | 6 | c.334 others(23): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61720917 | C | CTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 others(30): Show |
33 | 374 | 0.0882 | 6 | c.552 others(25): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61757700 | G | GACACAC | intron_variant | MODIFIER | HG01123.hp2 HG01433.hp2 HG02109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(15): Show |
18 | 374 | 0.0481 | 6 | c.553 others(23): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24011117 | A | ACACACG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01358.hp2 HG02523.hp1 others(8): Show |
a0001 | a0001c0001a0001c0028 | a0001c0001t0001a0001c0028t0001 | a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0050 others(8): Show |
11 | 268 | 0.0410 | 6 | c.-32 others(15): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 186 | chr22 | TogoVar | |||||||
CABIN1_chr22_24006304_24183628 | 24042818 | C | CTCTGTG | intron_variant | MODIFIER | HG00408.hp2 NA18963.hp1 NA18971.hp2 others(3): Show |
a0001a0010 | a0001c0004a0001c0040a0010c0041 | a0001c0004t0001a0001c0040t0001a0010c0041t0001 | a0001c0004t0001g0194 a0001c0004t0001g0200 a0001c0004t0001g0201 others(3): Show |
6 | 268 | 0.0224 | 6 | c.346 others(19): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24042818 | C | CTGTGTG | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00597.hp2 others(31): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0040 others(31): Show |
34 | 268 | 0.1269 | 6 | c.346 others(19): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24092687 | A | AGTGTGT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00673.hp2 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(37): Show |
40 | 268 | 0.1493 | 6 | c.378 others(23): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24136524 | A | ATTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG01884.hp2 HG02145.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0245 a0001c0001t0001g0246 a0005c0010t0001g0257 others(2): Show |
5 | 268 | 0.0187 | 6 | c.474 others(25): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23134436 | G | GCCCCCA | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00673.hp1 others(83): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0101 a0001c0001t0002g0104 a0001c0001t0002g0110 others(83): Show |
86 | 278 | 0.3094 | 6 | c.-13 others(17): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1048 | chr18 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23174821 | C | CATATAT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01071.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0021 a0001c0001t0001g0101 a0001c0001t0001g0274 others(7): Show |
10 | 278 | 0.0360 | 6 | c.846 others(25): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23177418 | T | TACACAC | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01361.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(25): Show |
28 | 278 | 0.1007 | 6 | c.846 others(25): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23184308 | C | CGTGTGT | intron_variant | MODIFIER | HG00597.hp1 HG02055.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(3): Show | a0001c0001t0001g0261 a0001c0001t0008g0163 a0001c0001t0016g0270 others(3): Show |
6 | 278 | 0.0216 | 6 | c.846 others(23): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23193194 | C | CTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp2 others(52): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0022 others(52): Show |
55 | 278 | 0.1978 | 6 | c.918 others(23): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62397938 | A | ATGGCGG | intron_variant | MODIFIER | HG01256.hp2 HG02683.hp2 HG03669.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0002 | a0001c0001t0011g0030 a0001c0002t0002g0137 a0001c0002t0002g0195 |
5 | 400 | 0.0125 | 6 | c.363 others(23): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62397995 | A | ATGGCGG | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 a0001c0001t0006g0167 |
6 | 400 | 0.0150 | 6 | c.363 others(23): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62398077 | T | TGGTGAC | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0008 | a0001c0008t0003a0001c0008t0005 | a0001c0008t0003g0027 a0001c0008t0003g0185 a0001c0008t0003g0187 others(7): Show |
15 | 400 | 0.0375 | 6 | c.363 others(23): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62398088 | A | ATGGTGG | intron_variant | MODIFIER | HG02818.hp2 HG02976.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017 | a0001c0001t0006g0047 a0001c0001t0006g0181 a0001c0001t0017g0182 |
4 | 400 | 0.0100 | 6 | c.363 others(23): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62398109 | G | GTGGTGA | intron_variant | MODIFIER | HG00140.hp2 HG02523.hp2 HG03704.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0039 a0001c0001t0009g0133 a0001c0001t0009g0134 others(2): Show |
6 | 400 | 0.0150 | 6 | c.363 others(23): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar |