| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CARD14_chr17_80165030_80214331 | 80171201 | C | CCCTTCCT others(5): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 376 | 0.0027 | 12 | c.-69 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CARD14_chr17_80165030_80214331 | 80171205 | C | CCCTCCCT others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0359 | 1 | 376 | 0.0027 | 12 | c.-69 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CARD14_chr17_80165030_80214331 | 80172872 | C | CTTTTTTT others(5): Show |
splice_region_variant others(1): Show |
LOW | HG01070.hp2 HG01071.hp1 HG01071.hp2 others(11): Show |
a0001a0003a0004others(2): Show | a0001c0007a0001c0051a0001c0069others(5): Show | a0001c0007t0002a0001c0051t0001a0001c0069t0002others(5): Show | a0001c0007t0002g0007a0001c0007t0002g0325a0001c0007t0002g0329others(10): Show | 14 | 376 | 0.0372 | 12 | c.-68 others(26): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CARD14_chr17_80165030_80214331 | 80197543 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02630.hp2 NA18978.hp1 others(1): Show |
a0002a0003a0008 | a0002c0002a0003c0006a0008c0018 | a0002c0002t0001a0003c0006t0002a0003c0006t0026others(1): Show | a0002c0002t0001g0154a0003c0006t0002g0173a0003c0006t0026g0369others(1): Show | 4 | 376 | 0.0106 | 12 | c.159 others(29): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CARD18_chr11_105132714_105144769 | 105133383 | A | AAAATAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 432 | 0.0023 | 12 | c.*47 others(23): Show |
CARD18 | ENSG00000255501.3 | transcript | ENST00000530950.2 | protein_coding | 4330 | chr11 | TogoVar | ||||||
| CARD19_chr9_93091217_93118283 | 93115479 | G | GGGAGGGG others(5): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(196): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0003others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0006others(102): Show | 199 | 358 | 0.5559 | 12 | c.*23 others(23): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 2197 | chr9 | TogoVar | ||||||
| CARD19_chr9_93091217_93118283 | 93115479 | G | GGGAGGGG others(5): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0078 | 2 | 358 | 0.0056 | 12 | c.*23 others(23): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 2197 | chr9 | TogoVar | ||||||
| CARD8_chr19_48203086_48260912 | 48207734 | G | GGTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0005 | a0001c0005t0051 | a0001c0005t0051g0275 | 1 | 362 | 0.0028 | 12 | c.*39 others(23): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 351 | chr19 | TogoVar | ||||||
| CARD8_chr19_48203086_48260912 | 48207734 | G | GTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02630.hp1 HG02809.hp2 others(2): Show |
a0001a0006a0013 | a0001c0002a0006c0014a0013c0025 | a0001c0002t0064a0006c0014t0039a0006c0014t0040others(2): Show | a0001c0002t0064g0332a0006c0014t0039g0154a0006c0014t0040g0155others(2): Show | 5 | 362 | 0.0138 | 12 | c.*39 others(23): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 351 | chr19 | TogoVar | ||||||
| CARD8_chr19_48203086_48260912 | 48252808 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02273.hp1 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0003a0001c0003t0055a0001c0004t0003others(2): Show | a0001c0003t0003g0128a0001c0003t0003g0129a0001c0003t0003g0130others(7): Show | 10 | 362 | 0.0276 | 12 | c.-25 others(31): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
| CARD8_chr19_48203086_48260912 | 48252808 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(112): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(12): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0012others(33): Show | a0001c0002t0002g0030a0001c0002t0002g0066a0001c0002t0002g0104others(99): Show | 115 | 362 | 0.3177 | 12 | c.-25 others(31): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
| CARD8_chr19_48203086_48260912 | 48252808 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG02738.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0009 | a0001c0004t0044a0003c0009t0002 | a0001c0004t0044g0050a0003c0009t0002g0051a0003c0009t0002g0052others(2): Show | 5 | 362 | 0.0138 | 12 | c.-25 others(31): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
| CARD8_chr19_48203086_48260912 | 48252808 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0005 | a0001c0005t0019 | a0001c0005t0019g0022 | 2 | 362 | 0.0055 | 12 | c.-25 others(31): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
| CARF_chr2_202907275_202993263 | 202909782 | A | ATTATTTA others(5): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp2 others(10): Show |
a0003 | a0003c0003a0003c0007a0003c0009others(1): Show | a0003c0003t0016a0003c0003t0047a0003c0003t0048others(6): Show | a0003c0003t0016g0002a0003c0003t0016g0013a0003c0003t0016g0014others(9): Show | 13 | 334 | 0.0389 | 12 | c.-36 others(23): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 2492 | chr2 | TogoVar | ||||||
| CARF_chr2_202907275_202993263 | 202916162 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0022a0002c0002t0023others(1): Show | a0002c0002t0012g0307a0002c0002t0022g0304a0002c0002t0022g0308others(4): Show | 7 | 334 | 0.0210 | 12 | c.-32 others(31): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CARF_chr2_202907275_202993263 | 202943587 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01358.hp2 HG02300.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0082a0001c0001t0003g0189a0001c0001t0004g0156others(10): Show | 13 | 334 | 0.0389 | 12 | c.306 others(27): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CARF_chr2_202907275_202993263 | 202958249 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00673.hp2 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0012a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0222a0001c0001t0002g0108others(18): Show | 21 | 334 | 0.0629 | 12 | c.642 others(29): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CARF_chr2_202907275_202993263 | 202980616 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01358.hp2 others(19): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0289a0001c0001t0002g0090a0001c0001t0002g0111others(19): Show | 22 | 334 | 0.0659 | 12 | c.155 others(29): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CARF_chr2_202907275_202993263 | 202986868 | G | GTATATAT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02148.hp1 HG03130.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0053a0002c0002t0098 | a0001c0001t0053g0256a0002c0002t0098g0318 | 2 | 334 | 0.0060 | 12 | c.*32 others(23): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3285 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0170a0001c0005t0018g0173 | 2 | 470 | 0.0043 | 12 | c.*31 others(23): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | ||||||
| CARHSP1_chr16_8847947_8874006 | 8857263 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18974.hp2 NA18997.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063a0001c0001t0003g0208a0001c0001t0003g0212others(1): Show | 4 | 470 | 0.0085 | 12 | c.281 others(29): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
| CARHSP1_chr16_8847947_8874006 | 8857264 | T | TTTTTGTT others(5): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18975.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054a0001c0002t0002g0151a0001c0002t0002g0166others(1): Show | 4 | 470 | 0.0085 | 12 | c.281 others(29): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
| CARHSP1_chr16_8847947_8874006 | 8857265 | T | TTTTTGTT others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02129.hp2 HG02132.hp2 others(6): Show |
a0001a0006 | a0001c0002a0001c0012a0006c0009 | a0001c0002t0002a0001c0002t0029a0001c0012t0002others(1): Show | a0001c0002t0002g0064a0001c0002t0002g0143a0001c0002t0002g0152others(6): Show | 9 | 470 | 0.0192 | 12 | c.281 others(29): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
| CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00642.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0047a0001c0001t0001g0274others(6): Show | 9 | 470 | 0.0192 | 12 | c.-7- others(27): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
| CARHSP1_chr16_8847947_8874006 | 8863137 | T | TTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0193 | 1 | 470 | 0.0021 | 12 | c.-7- others(27): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
| CARM1_chr19_10866553_10928075 | 10871589 | A | AGCGGCGG others(5): Show |
5_prime_UTR_variant | MODIFIER | HG03453.hp2 HG03710.hp2 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0053 | a0001c0001t0031g0263a0001c0001t0031g0316a0001c0001t0053g0170 | 3 | 354 | 0.0085 | 12 | c.-75 others(19): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 63 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| CARM1_chr19_10866553_10928075 | 10871643 | G | GGCGGCGG others(5): Show |
5_prime_UTR_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0055 | a0001c0004t0055g0018 | 1 | 354 | 0.0028 | 12 | c.-52 others(19): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 51 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| CARMIL1_chr6_25274374_25625530 | 25281136 | G | GCGCGCGC others(5): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00673.hp2 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0003g0064others(8): Show | 11 | 186 | 0.0591 | 12 | c.40+ others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25281136 | G | GCGCGCGC others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03486.hp1 NA20805.hp1 |
a0001a0002 | a0001c0033a0002c0005a0002c0034 | a0001c0033t0001a0002c0005t0013a0002c0034t0011 | a0001c0033t0001g0124a0002c0005t0013g0123a0002c0034t0011g0122 | 3 | 186 | 0.0161 | 12 | c.40+ others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25293265 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01255.hp1 others(4): Show |
a0001a0003a0008 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0002others(2): Show | a0001c0001t0001g0051a0001c0001t0001g0084a0001c0001t0001g0102others(4): Show | 7 | 186 | 0.0376 | 12 | c.138 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25296924 | T | TCTATCTA others(5): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0016 | a0006c0016t0005 | a0006c0016t0005g0165 | 1 | 186 | 0.0054 | 12 | c.138 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25296934 | T | TATCTATC others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00597.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0005a0001c0001t0007a0001c0002t0005others(10): Show | a0001c0001t0005g0147a0001c0001t0007g0143a0001c0002t0005g0154others(12): Show | 15 | 186 | 0.0807 | 12 | c.138 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
| CARMIL1_chr6_25274374_25625530 | 25332742 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 HG02109.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0021others(7): Show | a0001c0001t0001g0084a0001c0001t0015g0176a0001c0001t0021g0163others(7): Show | 10 | 186 | 0.0538 | 12 | c.138 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25332773 | G | GCATACAC others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01175.hp2 |
a0001a0012 | a0001c0002a0001c0012a0012c0026 | a0001c0002t0005a0001c0012t0005a0012c0026t0002 | a0001c0002t0005g0154a0001c0012t0005g0156a0012c0026t0002g0070 | 3 | 186 | 0.0161 | 12 | c.138 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25332775 | G | GCGCACAC others(5): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0009others(1): Show | a0001c0002t0008a0001c0004t0006a0001c0009t0002others(1): Show | a0001c0002t0008g0026a0001c0004t0006g0027a0001c0009t0002g0025others(1): Show | 4 | 186 | 0.0215 | 12 | c.138 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25338262 | A | AATAAAAT others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(79): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(47): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0056others(79): Show | 82 | 186 | 0.4409 | 12 | c.138 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25340777 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0017 | 1 | 186 | 0.0054 | 12 | c.138 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25364572 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01361.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0012a0002c0013 | a0001c0002t0001a0001c0002t0005a0001c0012t0005others(2): Show | a0001c0002t0001g0009a0001c0002t0005g0154a0001c0012t0005g0156others(2): Show | 5 | 186 | 0.0269 | 12 | c.139 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25387114 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02896.hp1 HG02970.hp1 others(2): Show |
a0001a0002a0005 | a0001c0004a0001c0009a0002c0005others(2): Show | a0001c0004t0006a0001c0009t0002a0002c0005t0003others(2): Show | a0001c0004t0006g0027a0001c0009t0002g0025a0002c0005t0003g0045others(2): Show | 5 | 186 | 0.0269 | 12 | c.139 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25441335 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03239.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0002 | a0001c0001t0015g0176a0001c0003t0002g0114 | 2 | 186 | 0.0108 | 12 | c.371 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 186 | 0.0054 | 12 | c.371 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATATATGT others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0010 | a0003c0010t0003 | a0003c0010t0003g0112 | 1 | 186 | 0.0054 | 12 | c.371 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATATGTGT others(5): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01952.hp2 NA18979.hp1 |
a0001a0003a0004 | a0001c0037a0003c0010a0004c0011 | a0001c0037t0002a0003c0010t0003a0004c0011t0013 | a0001c0037t0002g0083a0003c0010t0003g0104a0004c0011t0013g0055 | 3 | 186 | 0.0161 | 12 | c.371 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02717.hp1 HG03491.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0022a0002c0007others(1): Show | a0001c0001t0001a0001c0022t0002a0002c0007t0003others(1): Show | a0001c0001t0001g0080a0001c0001t0001g0102a0001c0022t0002g0108others(2): Show | 5 | 186 | 0.0269 | 12 | c.371 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25451986 | G | GCCCCCCC others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0115 | 1 | 186 | 0.0054 | 12 | c.614 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25459210 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02572.hp1 HG02735.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0002t0005others(4): Show | a0001c0001t0003g0054a0001c0001t0007g0143a0001c0002t0005g0157others(5): Show | 8 | 186 | 0.0430 | 12 | c.615 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25529755 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03490.hp1 HG03492.hp1 others(3): Show |
a0001a0003a0004 | a0001c0003a0001c0004a0003c0024others(1): Show | a0001c0003t0004a0001c0004t0004a0003c0024t0008others(1): Show | a0001c0003t0004g0092a0001c0004t0004g0036a0001c0004t0004g0039others(3): Show | 6 | 186 | 0.0323 | 12 | c.206 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARNMT1_chr9_74975790_75033293 | 75010802 | G | GGGTGGGG others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(254): Show | 288 | 366 | 0.7869 | 12 | c.590 others(29): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
| CARNS1_chr11_67410678_67430604 | 67424861 | C | CCACACAC others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(48): Show |
a0001a0002a0014others(1): Show | a0001c0003a0001c0004a0001c0008others(5): Show | a0001c0003t0003a0001c0003t0006a0001c0003t0009others(9): Show | a0001c0003t0003g0001a0001c0003t0003g0076a0001c0003t0006g0003others(16): Show | 51 | 346 | 0.1474 | 12 | c.*28 others(21): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 10/10 | 292 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
| CARS1_chr11_2995929_3062423 | 3031996 | T | TTCCTTCC others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206a0001c0001t0001g0265 | 2 | 321 | 0.0062 | 12 | c.802 others(29): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar |