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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP44_chr3_113281930_113446493 | 113300221 | TGGAGGTG others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02630.hp2 others(7): Show |
a0009a0012a0019others(1): Show | a0009c0010a0012c0017a0019c0020others(1): Show | a0009c0010t0027a0009c0010t0042a0009c0010t0043others(4): Show | a0009c0010t0027g0050 a0009c0010t0027g0281 a0009c0010t0042g0051 others(6): Show |
10 | 346 | 0.0289 | -9 | c.507 others(28): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113302457 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02717.hp1 others(6): Show |
a0009a0012a0019 | a0009c0010a0012c0017a0019c0020 | a0009c0010t0027a0009c0010t0042a0009c0010t0043others(3): Show | a0009c0010t0027g0050 a0009c0010t0027g0281 a0009c0010t0042g0051 others(5): Show |
9 | 193 | 0.0466 | -9 | c.507 others(28): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113328695 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00609.hp2 others(72): Show |
a0002a0003a0007others(6): Show | a0002c0002a0003c0007a0007c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(19): Show | a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0041 others(70): Show |
75 | 183 | 0.4098 | -9 | c.411 others(26): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132822469 | ATGTGTGC others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01261.hp1 HG02523.hp2 others(2): Show |
a0001a0009a0019others(1): Show | a0001c0001a0009c0043a0019c0027others(1): Show | a0001c0001t0002a0009c0043t0001a0019c0027t0002others(1): Show | a0001c0001t0002g0081 a0009c0043t0001g0209 a0019c0027t0002g0026 others(2): Show |
5 | 244 | 0.0205 | -9 | c.711 others(28): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823003 | ATGTGTGC others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01257.hp2 others(1): Show |
a0005a0012a0033 | a0005c0006a0012c0025a0033c0074 | a0005c0006t0001a0012c0025t0002a0033c0074t0002 | a0005c0006t0001g0192 a0012c0025t0002g0007 a0012c0025t0002g0014 others(1): Show |
4 | 244 | 0.0164 | -9 | c.711 others(28): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823640 | GATGTGTG others(2): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02809.hp2 others(1): Show |
a0010 | a0010c0011a0010c0072 | a0010c0011t0001a0010c0072t0002 | a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 others(1): Show |
4 | 244 | 0.0164 | -9 | c.711 others(28): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887305 | TCTTCTCT others(2): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01884.hp1 others(17): Show |
a0005a0010a0012others(11): Show | a0005c0013a0010c0072a0012c0076others(14): Show | a0005c0013t0001a0010c0072t0002a0012c0076t0001others(14): Show | a0005c0013t0001g0140 a0005c0013t0001g0151 a0005c0013t0001g0152 others(17): Show |
20 | 244 | 0.0820 | -9 | c.330 others(28): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 36037338 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02809.hp1 others(4): Show |
a0007a0034 | a0007c0006a0034c0054 | a0007c0006t0001a0034c0054t0001 | a0007c0006t0001g0175 a0007c0006t0001g0176 a0007c0006t0001g0177 others(4): Show |
7 | 127 | 0.0551 | -9 | c.381 others(28): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 24/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96484863 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(46): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0086a0002c0003others(13): Show | a0001c0001t0001a0001c0086t0001a0002c0003t0001others(14): Show | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0086t0001g0146 others(46): Show |
49 | 112 | 0.4375 | -9 | c.-47 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4713 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96499745 | AGACCAGC others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG03098.hp1 others(1): Show |
a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 others(1): Show |
4 | 266 | 0.0150 | -9 | c.318 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96738608 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(95): Show |
a0001a0006a0007others(18): Show | a0001c0001a0001c0012a0001c0047others(32): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(32): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0020 others(95): Show |
98 | 120 | 0.8167 | -9 | c.696 others(28): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 50/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96874618 | TTTATTTT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(55): Show |
a0002a0003a0004others(13): Show | a0002c0003a0002c0058a0002c0091others(22): Show | a0002c0003t0001a0002c0058t0001a0002c0091t0001others(23): Show | a0002c0003t0001g0137 a0002c0003t0001g0152 a0002c0003t0001g0159 others(55): Show |
58 | 265 | 0.2189 | -9 | c.*15 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104413706 | ACATCATC others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(6): Show |
9 | 121 | 0.0744 | -9 | c.225 others(28): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20294937 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01361.hp1 HG01496.hp1 others(1): Show |
a0001a0002a0008 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0002a0001c0006t0006a0002c0002t0002others(1): Show | a0001c0001t0002g0225 a0001c0006t0006g0011 a0002c0002t0002g0039 others(1): Show |
4 | 97 | 0.0412 | -9 | c.321 others(28): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296043 | CTCCCTTC others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(66): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0003a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0154 others(66): Show |
69 | 234 | 0.2949 | -9 | c.321 others(28): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219033486 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(76): Show |
a0002a0003a0007others(12): Show | a0002c0002a0003c0003a0007c0006others(16): Show | a0002c0002t0002a0003c0003t0001a0003c0003t0002others(20): Show | a0002c0002t0002g0066 a0003c0003t0001g0240 a0003c0003t0002g0005 others(61): Show |
79 | 320 | 0.2469 | -9 | c.543 others(24): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 5/34 | chr2 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90264105 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG01515.hp2 others(9): Show |
a0001a0004 | a0001c0002a0001c0012a0004c0007 | a0001c0002t0002a0001c0002t0005a0001c0012t0002others(1): Show | a0001c0002t0002g0011 a0001c0002t0002g0142 a0001c0002t0002g0144 others(9): Show |
12 | 229 | 0.0524 | -9 | c.357 others(26): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | chr7 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90275590 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00673.hp1 others(31): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(28): Show |
34 | 58 | 0.5862 | -9 | c.985 others(26): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1919188 | CAGCGGCA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(75): Show |
a0001a0002a0006others(8): Show | a0001c0025a0001c0030a0001c0064others(19): Show | a0001c0025t0001a0001c0030t0001a0001c0064t0001others(19): Show | a0001c0025t0001g0010 a0001c0025t0001g0162 a0001c0025t0001g0276 others(75): Show |
78 | 274 | 0.2847 | -9 | c.*30 others(20): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 2768 | chr1 | TogoVar | |||||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0013a0001c0007t0008others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0183 a0001c0002t0013g0048 others(8): Show |
14 | 26 | 0.5385 | -9 | c.146 others(26): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69818352 | AAAACAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01070.hp1 others(51): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 others(51): Show |
54 | 378 | 0.1429 | -9 | c.-25 others(20): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 2464 | chr9 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69843557 | CCTTCTTC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01167.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0099 a0001c0001t0001g0210 a0001c0001t0001g0227 others(8): Show |
11 | 242 | 0.0455 | -9 | c.153 others(24): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114223435 | AAGAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0008 | a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 others(23): Show |
29 | 398 | 0.0729 | -9 | c.*92 others(18): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 351 | chr13 | TogoVar | |||||||
CFAP97_chr4_185154665_185209000 | 185170983 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(98): Show |
133 | 135 | 0.9852 | -9 | c.132 others(28): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
CFC1_chr2_130587165_130604575 | 130588083 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01081.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
25 | 112 | 0.2232 | -9 | c.*47 others(20): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4081 | chr2 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75335519 | CCTACTTT others(2): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(4): Show |
7 | 312 | 0.0224 | -9 | c.651 others(28): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75339468 | CTTCAGTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01433.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(8): Show |
11 | 312 | 0.0353 | -9 | c.651 others(28): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75352007 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(121): Show |
124 | 236 | 0.5254 | -9 | c.650 others(28): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75393737 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01192.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0249 others(3): Show |
6 | 10 | 0.6000 | -9 | c.650 others(26): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201158849 | CATCATTA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0014a0002c0004t0035a0002c0004t0036others(3): Show | a0001c0002t0014g0093 a0002c0004t0035g0175 a0002c0004t0036g0055 others(3): Show |
6 | 149 | 0.0403 | -9 | c.794 others(26): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201158852 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0032a0001c0001t0131 | a0001c0001t0010g0007 a0001c0001t0010g0048 a0001c0001t0010g0051 others(4): Show |
8 | 131 | 0.0611 | -9 | c.794 others(26): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201165241 | CTTATTAT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0019a0001c0001t0029a0001c0001t0103others(6): Show | a0001c0001t0019g0001 a0001c0001t0019g0192 a0001c0001t0019g0193 others(11): Show |
15 | 34 | 0.4412 | -9 | c.*13 others(20): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 1307 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57383622 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02630.hp1 HG02965.hp2 others(7): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0015a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0015t0001others(6): Show | a0001c0001t0002g0100 a0001c0001t0004g0028 a0001c0015t0001g0017 others(7): Show |
10 | 292 | 0.0342 | -9 | c.-16 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57437619 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(63): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0071 others(62): Show |
66 | 93 | 0.7097 | -9 | c.-15 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49656283 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(137): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0025 others(120): Show |
140 | 149 | 0.9396 | -9 | c.183 others(26): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132997659 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 others(3): Show |
6 | 101 | 0.0594 | -9 | c.252 others(28): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
CHCHD5_chr2_112579609_112594040 | 112580082 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(81): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0002g0002 others(2): Show |
84 | 182 | 0.4615 | -9 | c.-45 others(20): Show |
CHCHD5 | ENSG00000125611.16 | transcript | ENST00000324913.10 | protein_coding | 4526 | chr2 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126731098 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(3): Show |
6 | 72 | 0.0833 | -9 | c.266 others(24): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126863938 | TCCACCAT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(5): Show |
8 | 214 | 0.0374 | -9 | c.495 others(28): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCT1_chr17_60417489_60436426 | 60419817 | AATTATTA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01257.hp1 HG01258.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0007 others(14): Show |
25 | 88 | 0.2841 | -9 | c.-27 others(20): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 2671 | chr17 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98851539 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG01358.hp1 others(27): Show |
a0001a0002a0005 | a0001c0003a0002c0002a0005c0009 | a0001c0003t0002a0002c0002t0002a0002c0002t0005others(5): Show | a0001c0003t0002g0055 a0002c0002t0002g0078 a0002c0002t0002g0079 others(27): Show |
30 | 171 | 0.1754 | -9 | c.*48 others(20): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2445 | chr5 | TogoVar | |||||||
CHD2_chr15_92895324_93032996 | 92961876 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0001g0016 a0001c0002t0001g0091 a0001c0002t0001g0233 others(57): Show |
60 | 107 | 0.5607 | -9 | c.200 others(28): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 93013302 | TCCGGAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0028 others(76): Show |
80 | 304 | 0.2632 | -9 | c.469 others(26): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885307 | CCCGCCGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01952.hp1 HG02615.hp2 HG04199.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0159 a0002c0002t0001g0160 others(1): Show |
4 | 103 | 0.0388 | -9 | c.-36 others(20): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | |||||||
CHD4_chr12_6565082_6612379 | 6580229 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00733.hp1 others(30): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0002t0001g0259 a0001c0002t0002g0009 a0001c0002t0002g0016 others(25): Show |
33 | 354 | 0.0932 | -9 | c.490 others(26): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 33/39 | chr12 | TogoVar | |||||||
CHD4_chr12_6565082_6612379 | 6607707 | CACACACA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp2 HG04199.hp1 NA18999.hp2 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0002a0002c0001t0001 | a0001c0004t0002g0076 a0002c0001t0001g0176 a0002c0001t0001g0209 |
3 | 372 | 0.0081 | -9 | c.-49 others(18): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 329 | chr12 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41419554 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00738.hp1 others(35): Show |
a0001a0003 | a0001c0002a0001c0005a0003c0010 | a0001c0002t0001a0001c0005t0001a0003c0010t0001 | a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 others(35): Show |
38 | 64 | 0.5938 | -9 | c.612 others(26): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41531831 | GCATTCTT others(2): Show |
G | intron_variant | MODIFIER | HG02698.hp1 HG03239.hp1 HG06807.hp2 |
a0003 | a0003c0013a0003c0026 | a0003c0013t0001a0003c0026t0001 | a0003c0013t0001g0001 a0003c0013t0001g0002 a0003c0026t0001g0003 |
3 | 322 | 0.0093 | -9 | c.554 others(26): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 3/36 | chr20 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21457628 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01070.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0001g0153 others(15): Show |
18 | 36 | 0.5000 | -9 | c.-18 others(20): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53108335 | CTACAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01074.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0013others(6): Show | a0001c0001t0001g0025 a0001c0001t0001g0091 a0001c0001t0001g0092 others(36): Show |
39 | 236 | 0.1653 | -9 | c.-16 others(30): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |