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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARF_chr2_202907275_202993263 | 202943587 | T | TACACAC | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00735.hp2 others(40): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0120a0001c0001t0001g0154a0001c0001t0001g0170others(39): Show | 43 | 334 | 0.1287 | 6 | c.306 others(21): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202949516 | T | TTTTTTA | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG03491.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0027others(2): Show | a0001c0001t0005g0058a0001c0001t0008g0296a0001c0001t0008g0297others(4): Show | 7 | 334 | 0.0210 | 6 | c.307 others(23): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202958249 | A | ATGTGTG | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG00738.hp2 others(19): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0042others(10): Show | a0001c0001t0001g0054a0001c0001t0001g0154a0001c0001t0001g0161others(18): Show | 22 | 334 | 0.0659 | 6 | c.642 others(23): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202964883 | G | GTATATA | intron_variant | MODIFIER | HG01081.hp1 HG02080.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0077a0001c0001t0085 | a0001c0001t0002g0127a0001c0001t0077g0042a0001c0001t0085g0020 | 3 | 334 | 0.0090 | 6 | c.833 others(23): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202980616 | G | GTATATA | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp1 HG01168.hp2 others(31): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0120a0001c0001t0001g0154a0001c0001t0001g0198others(31): Show | 34 | 334 | 0.1018 | 6 | c.155 others(23): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986867 | C | CATATAT | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 NA18959.hp1 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0102 | a0001c0001t0044g0207a0001c0001t0044g0210a0001c0001t0102g0174 | 3 | 334 | 0.0090 | 6 | c.*32 others(17): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3244 | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986868 | G | GTATATA | 3_prime_UTR_variant | MODIFIER | HG02559.hp1 HG03195.hp2 NA18948.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0056a0002c0002t0059a0002c0002t0097 | a0001c0001t0056g0260a0002c0002t0059g0324a0002c0002t0097g0320 | 3 | 334 | 0.0090 | 6 | c.*32 others(17): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3285 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01255.hp2 HG01358.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0023a0001c0001t0026others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0035others(23): Show | 27 | 470 | 0.0575 | 6 | c.*31 others(17): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8857264 | T | TTTTTTG | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01167.hp2 others(6): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0002t0009a0001c0002t0030others(1): Show | a0001c0002t0002g0009a0001c0002t0002g0334a0001c0002t0009g0204others(4): Show | 9 | 470 | 0.0192 | 6 | c.281 others(23): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10871589 | A | AGCGGCG | 5_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0057a0001c0005t0052 | a0001c0001t0004g0004a0001c0001t0004g0008a0001c0001t0004g0010others(16): Show | 20 | 354 | 0.0565 | 6 | c.-69 others(13): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 63 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
CARM1_chr19_10866553_10928075 | 10890774 | C | CACATAT | intron_variant | MODIFIER | HG02280.hp1 HG02738.hp2 NA18957.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0038a0001c0002t0023 | a0001c0001t0001g0065a0001c0001t0038g0243a0001c0002t0023g0113 | 3 | 354 | 0.0085 | 6 | c.221 others(25): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25281127 | T | TGTGCGC | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01106.hp2 others(4): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0109a0001c0002t0001g0111a0001c0003t0002g0114others(4): Show | 7 | 186 | 0.0376 | 6 | c.40+ others(21): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25281128 | G | GTACGCA | intron_variant | MODIFIER | HG02083.hp1 HG02165.hp1 HG02922.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0008a0001c0003t0002a0001c0004t0002others(4): Show | a0001c0001t0008g0133a0001c0003t0002g0037a0001c0003t0002g0041others(7): Show | 10 | 186 | 0.0538 | 6 | c.40+ others(21): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25281133 | C | CGTGTGT | intron_variant | MODIFIER | HG02083.hp1 HG02165.hp1 HG02922.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0008a0001c0003t0002a0001c0004t0002others(4): Show | a0001c0001t0008g0133a0001c0003t0002g0037a0001c0003t0002g0041others(7): Show | 10 | 186 | 0.0538 | 6 | c.40+ others(21): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25281136 | G | GCACACA | intron_variant | MODIFIER | HG01934.hp2 HG02630.hp1 HG03516.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005others(1): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0009others(2): Show | a0001c0002t0001g0007a0001c0002t0001g0008a0001c0002t0001g0009others(4): Show | 7 | 186 | 0.0376 | 6 | c.40+ others(21): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25281136 | G | GCGCACA | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01175.hp2 others(3): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0005a0001c0003t0010a0001c0009t0009others(2): Show | a0001c0002t0005g0154a0001c0002t0005g0157a0001c0003t0010g0155others(3): Show | 6 | 186 | 0.0323 | 6 | c.40+ others(21): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25293265 | G | GGTGTGT | intron_variant | MODIFIER | HG00609.hp2 HG02738.hp2 NA19007.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0008 | a0001c0001t0001g0080a0001c0001t0006g0061a0001c0003t0008g0127 | 3 | 186 | 0.0161 | 6 | c.138 others(23): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25296933 | C | CTAACTA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(23): Show | a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0001g0068others(32): Show | 35 | 186 | 0.1882 | 6 | c.138 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25296933 | C | CTATCTA | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02145.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0004a0001c0008others(5): Show | a0001c0002t0003a0001c0004t0004a0001c0008t0001others(6): Show | a0001c0002t0003g0017a0001c0004t0004g0115a0001c0008t0001g0066others(6): Show | 9 | 186 | 0.0484 | 6 | c.138 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25312913 | A | AACAAAC | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(70): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(45): Show | a0001c0001t0001g0012a0001c0001t0001g0056a0001c0001t0001g0065others(70): Show | 73 | 186 | 0.3925 | 6 | c.138 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25313571 | G | GCAGGGC | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(46): Show | a0001c0001t0001g0012a0001c0001t0001g0056a0001c0001t0001g0065others(72): Show | 75 | 186 | 0.4032 | 6 | c.138 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25332742 | T | TACACAC | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG03225.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0015a0001c0002t0003a0001c0004t0004others(1): Show | a0001c0001t0015g0184a0001c0002t0003g0060a0001c0004t0004g0121others(1): Show | 4 | 186 | 0.0215 | 6 | c.138 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25387114 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG01167.hp2 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0019others(17): Show | a0001c0001t0001g0056a0001c0001t0001g0068a0001c0001t0001g0076others(29): Show | 32 | 186 | 0.1720 | 6 | c.139 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25441320 | C | CATATAT | intron_variant | MODIFIER | HG01175.hp1 HG02486.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(2): Show | a0001c0002t0001g0007a0001c0002t0001g0008a0001c0002t0001g0105others(5): Show | 8 | 186 | 0.0430 | 6 | c.371 others(23): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25441333 | A | ATGTGTG | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp1 HG03209.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0021a0001c0002t0011a0001c0004t0002others(2): Show | a0001c0001t0021g0163a0001c0002t0011g0029a0001c0004t0002g0088others(2): Show | 5 | 186 | 0.0269 | 6 | c.371 others(23): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATGTGTG | intron_variant | MODIFIER | HG03669.hp1 NA20129.hp2 |
a0002a0004 | a0002c0005a0004c0011 | a0002c0005t0006a0004c0011t0006 | a0002c0005t0006g0116a0004c0011t0006g0044 | 2 | 186 | 0.0108 | 6 | c.371 others(23): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25495538 | C | CGTGTGT | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02615.hp1 others(10): Show |
a0001a0003a0008 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0008others(7): Show | a0001c0002t0001g0007a0001c0002t0001g0008a0001c0002t0001g0105others(10): Show | 13 | 186 | 0.0699 | 6 | c.132 others(23): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 16/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25586947 | A | AGAGAGG | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0033 | a0001c0001t0008a0001c0001t0015a0001c0002t0008others(1): Show | a0001c0001t0008g0101a0001c0001t0015g0176a0001c0001t0015g0184others(2): Show | 5 | 186 | 0.0269 | 6 | c.300 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25596850 | G | GACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00621.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0003others(17): Show | a0001c0001t0001g0051a0001c0001t0001g0058a0001c0001t0001g0102others(27): Show | 30 | 186 | 0.1613 | 6 | c.311 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARNMT1_chr9_74975790_75033293 | 75005827 | A | AACACAC | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01070.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0023a0001c0001t0002g0176a0001c0001t0002g0183others(11): Show | 16 | 366 | 0.0437 | 6 | c.591 others(23): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
CARNS1_chr11_67410678_67430604 | 67424861 | C | CCACACA | 3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02723.hp2 others(7): Show |
a0001a0002a0008others(1): Show | a0001c0003a0001c0005a0001c0008others(3): Show | a0001c0003t0044a0001c0005t0011a0001c0008t0041others(4): Show | a0001c0003t0044g0058a0001c0005t0011g0006a0001c0005t0011g0050others(5): Show | 10 | 346 | 0.0289 | 6 | c.*28 others(15): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 10/10 | 292 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CARS2_chr13_110636417_110711116 | 110653199 | A | ATGTGTG | intron_variant | MODIFIER | HG03471.hp1 HG03491.hp1 HG03492.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0002 | a0001c0002t0001g0233a0001c0003t0001g0297a0001c0003t0002g0284others(3): Show | 6 | 372 | 0.0161 | 6 | c.988 others(23): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 9/14 | chr13 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110653211 | G | GTGTGTT | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp1 HG01255.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0035a0002c0004t0001g0036a0002c0004t0001g0037 | 3 | 372 | 0.0081 | 6 | c.988 others(23): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 9/14 | chr13 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110679597 | A | AAGAAAG | intron_variant | MODIFIER | HG01891.hp1 HG01943.hp1 HG02055.hp1 others(10): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0265a0001c0002t0001g0279a0001c0002t0002g0271others(10): Show | 13 | 372 | 0.0350 | 6 | c.656 others(23): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
CARTPT_chr5_71714275_71726045 | 71721271 | A | ATGTGTG | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01261.hp2 HG01952.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0003 | 31 | 474 | 0.0654 | 6 | c.*65 others(15): Show |
CARTPT | ENSG00000164326.5 | transcript | ENST00000296777.5 | protein_coding | 227 | chr5 | TogoVar | ||||||
CARTPT_chr5_71714275_71726045 | 71721292 | T | TGAGAGA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02922.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0007g0004 | 6 | 474 | 0.0127 | 6 | c.*67 others(15): Show |
CARTPT | ENSG00000164326.5 | transcript | ENST00000296777.5 | protein_coding | 248 | chr5 | TogoVar | ||||||
CARTPT_chr5_71714275_71726045 | 71721292 | T | TGTGAGA | downstream_gene_variant | MODIFIER | HG01243.hp1 HG03540.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0004a0001c0001t0003g0004a0001c0001t0009g0014 | 3 | 474 | 0.0063 | 6 | c.*67 others(15): Show |
CARTPT | ENSG00000164326.5 | transcript | ENST00000296777.5 | protein_coding | 248 | chr5 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140317 | A | AACACAC | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00738.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0028others(14): Show | 19 | 266 | 0.0714 | 6 | c.-23 others(15): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 219 | chr17 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140373 | A | AACACAC | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0194 | 2 | 266 | 0.0075 | 6 | c.-17 others(15): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 163 | chr17 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40164750 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01123.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0033others(6): Show | 11 | 266 | 0.0414 | 6 | c.147 others(23): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CASD1_chr7_94504809_94562019 | 94507389 | G | GGTGTGT | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03209.hp1 NA20129.hp1 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0006a0004c0010t0006 | a0001c0001t0006g0219a0001c0001t0006g0220a0004c0010t0006g0218 | 3 | 398 | 0.0075 | 6 | c.-26 others(17): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 2419 | chr7 | TogoVar | ||||||
CASD1_chr7_94504809_94562019 | 94525097 | T | TAGAGAA | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01070.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015a0001c0003t0001g0068a0001c0003t0001g0074others(1): Show | 6 | 398 | 0.0151 | 6 | c.352 others(23): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASD1_chr7_94504809_94562019 | 94559276 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02056.hp1 HG02109.hp2 others(19): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0051a0001c0001t0001g0052others(13): Show | 22 | 398 | 0.0553 | 6 | c.*35 others(17): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 2258 | chr7 | TogoVar | ||||||
CASKIN1_chr16_2172180_2201605 | 2179036 | C | CGCGGCG | disruptive_inframe_insertion | MODERATE | HG02055.hp2 HG02080.hp1 HG02083.hp1 others(2): Show |
a0006a0018a0020 | a0006c0009a0018c0023a0020c0032 | a0006c0009t0001a0018c0023t0001a0020c0032t0002 | a0006c0009t0001g0041a0006c0009t0001g0134a0018c0023t0001g0106others(1): Show | 5 | 350 | 0.0143 | 6 | c.405 others(15): Show |
p.Ala others(15): Show |
CASKIN1 | ENSG00000167971.16 | transcript | ENST00000343516.8 | protein_coding | 19/20 | 4237/5839 | 4064/4296 | 1355/1431 | chr16 | TogoVar | ||
CASKIN2_chr17_75495261_75520537 | 75516562 | T | TGGAGCC | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01106.hp1 others(18): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0081a0001c0001t0003g0012a0001c0001t0003g0080others(10): Show | 21 | 414 | 0.0507 | 6 | c.-15 others(17): Show |
CASKIN2 | ENSG00000177303.10 | transcript | ENST00000321617.8 | protein_coding | 1026 | chr17 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41510388 | C | CATATAT | downstream_gene_variant | MODIFIER | HG03492.hp1 HG03942.hp1 NA18943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0046a0001c0001t0001g0058a0001c0001t0001g0112others(1): Show | 4 | 164 | 0.0244 | 6 | c.*10 others(19): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 4545 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41512024 | T | TACACAC | downstream_gene_variant | MODIFIER | HG02071.hp1 NA18953.hp1 NA18957.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0074a0001c0001t0001g0087a0001c0001t0001g0154others(2): Show | 5 | 164 | 0.0305 | 6 | c.*83 others(17): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2909 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41517770 | T | TAGCAGC | 3_prime_UTR_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0055 | 1 | 164 | 0.0061 | 6 | c.*26 others(17): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 27/27 | 2649 | chrX | TogoVar | |||||
CASK_chrX_41509934_41928554 | 41534392 | A | AACACAC | intron_variant | MODIFIER | HG02258.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0051a0001c0001t0004g0133 | 2 | 164 | 0.0122 | 6 | c.231 others(23): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 24/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41537818 | T | TTTATTA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00738.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0060a0001c0001t0001g0071a0001c0001t0001g0094others(13): Show | 16 | 164 | 0.0976 | 6 | c.215 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 22/26 | chrX | TogoVar |