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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A2_chr13_110302284_110518209 | 110442087 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00621.hp2 others(55): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0003a0001c0005others(14): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(33): Show | a0001c0002t0001g0152 a0001c0002t0001g0193 a0001c0002t0001g0243 others(55): Show |
58 | 159 | 0.3648 | -17 | c.957 others(34): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 16/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227291576 | AAAACAAA others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02040.hp1 HG02109.hp2 others(10): Show |
a0002a0003a0004others(4): Show | a0002c0004a0003c0002a0004c0003others(4): Show | a0002c0004t0003a0003c0002t0003a0004c0003t0003others(4): Show | a0002c0004t0003g0144 a0002c0004t0003g0245 a0003c0002t0003g0092 others(10): Show |
13 | 342 | 0.0380 | -17 | c.321 others(34): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 37/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227009713 | GGAAAAGA others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(142): Show |
a0001a0002a0003others(27): Show | a0001c0010a0002c0002a0002c0019others(41): Show | a0001c0010t0005a0002c0002t0002a0002c0002t0005others(55): Show | a0001c0010t0005g0276 a0001c0010t0005g0279 a0001c0010t0005g0280 others(142): Show |
145 | 278 | 0.5216 | -17 | c.452 others(34): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 46/47 | chr2 | TogoVar | |||||||
COL4A5_chrX_108434838_108702545 | 108473614 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 267 | 0.0037 | -17 | c.81+ others(34): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134800749 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0015 | a0001c0015t0052 | a0001c0015t0052g0016 | 1 | 54 | 0.0185 | -17 | c.295 others(36): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 37/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9964854 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG01934.hp2 HG02630.hp2 others(8): Show |
a0002a0009a0010others(5): Show | a0002c0002a0002c0020a0009c0007others(7): Show | a0002c0002t0002a0002c0020t0001a0009c0007t0001others(8): Show | a0002c0002t0002g0312 a0002c0020t0001g0072 a0009c0007t0001g0130 others(8): Show |
11 | 23 | 0.4783 | -17 | c.478 others(36): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 64/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9970095 | CTGAGTGG others(10): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG02074.hp1 |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0001 | a0001c0001t0001g0372 a0006c0005t0001g0073 |
2 | 216 | 0.0093 | -17 | c.393 others(34): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9970447 | AGTGGGGT others(10): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(19): Show |
a0004a0024a0040others(3): Show | a0004c0010a0004c0013a0004c0108others(5): Show | a0004c0010t0001a0004c0010t0004a0004c0010t0023others(9): Show | a0004c0010t0001g0250 a0004c0010t0004g0012 a0004c0010t0004g0165 others(18): Show |
22 | 410 | 0.0537 | -17 | c.393 others(34): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981582 | CCGCCCCG others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0024 | 1 | 125 | 0.0080 | -17 | c.-26 others(26): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 187 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981596 | CCCTCCCG others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0109 | 1 | 125 | 0.0080 | -17 | c.-25 others(26): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 173 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 46000641 | AGGCCGGG others(10): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
a0001a0011a0015 | a0001c0010a0001c0012a0011c0027others(1): Show | a0001c0010t0005a0001c0012t0005a0011c0027t0005others(1): Show | a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 others(3): Show |
6 | 126 | 0.0476 | -17 | c.181 others(33): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 46000651 | AGGAGGGC others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0007others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(35): Show | a0001c0001t0001g0067 a0001c0001t0002g0003 a0001c0001t0002g0004 others(95): Show |
99 | 126 | 0.7857 | -17 | c.181 others(33): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237329053 | CTTAATTT others(10): Show |
C | intron_variant | MODIFIER | NA18947.hp1 | a0060 | a0060c0142 | a0060c0142t0001 | a0060c0142t0001g0227 | 1 | 320 | 0.0031 | -17 | c.932 others(36): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237343514 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0010 | a0010c0069 | a0010c0069t0001 | a0010c0069t0001g0185 | 1 | 41 | 0.0244 | -17 | c.766 others(34): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | |||||||
COL6A5_chr3_130340672_130489846 | 130362316 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA18955.hp1 | a0084 | a0084c0046 | a0084c0046t0007 | a0084c0046t0007g0037 | 1 | 267 | 0.0037 | -17 | c.-28 others(36): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590293 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03688.hp1 HG03834.hp2 |
a0005 | a0005c0003a0005c0059 | a0005c0003t0002a0005c0059t0030 | a0005c0003t0002g0098 a0005c0059t0030g0221 |
2 | 231 | 0.0087 | -17 | c.421 others(34): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590295 | ATATATTT others(10): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG03453.hp1 NA18946.hp2 |
a0005a0006a0011 | a0005c0003a0006c0063a0011c0008 | a0005c0003t0006a0006c0063t0023a0011c0008t0002 | a0005c0003t0006g0088 a0006c0063t0023g0168 a0011c0008t0002g0034 |
3 | 217 | 0.0138 | -17 | c.421 others(34): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590297 | ATATTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG03927.hp2 others(3): Show |
a0004a0005a0011 | a0004c0010a0004c0013a0005c0003others(1): Show | a0004c0010t0003a0004c0013t0005a0005c0003t0001others(3): Show | a0004c0010t0003g0261 a0004c0013t0005g0044 a0005c0003t0001g0005 others(3): Show |
6 | 191 | 0.0314 | -17 | c.421 others(34): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590299 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0006 | a0006c0007 | a0006c0007t0007 | a0006c0007t0007g0092 a0006c0007t0007g0093 |
2 | 136 | 0.0147 | -17 | c.421 others(34): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321119 | AAAATTAT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 NA18955.hp2 |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0001a0004c0004t0001 | a0001c0002t0001g0001 a0004c0004t0001g0095 |
2 | 431 | 0.0046 | -17 | c.-39 others(28): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3834 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321124 | TATATATA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG02698.hp1 HG03831.hp1 HG04115.hp1 |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0003c0003t0001 | a0002c0001t0001g0003 a0003c0003t0001g0175 |
3 | 286 | 0.0105 | -17 | c.-39 others(28): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3839 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321126 | TATATATA others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0005 | 1 | 321 | 0.0031 | -17 | c.-39 others(28): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3841 | chr1 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069624 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0086 | 1 | 383 | 0.0026 | -17 | c.148 others(34): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069626 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0020 a0001c0001t0005g0124 a0001c0001t0005g0126 others(4): Show |
8 | 383 | 0.0209 | -17 | c.148 others(34): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62002491 | GAAAAAAA others(10): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 52 | 0.0192 | -17 | c.462 others(34): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD6_chr13_75520214_75542841 | 75524456 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 3 | 0.3333 | -17 | c.*21 others(28): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 757 | chr13 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36286409 | AAAAAGAA others(10): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01928.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 others(6): Show |
9 | 444 | 0.0203 | -17 | c.51+ others(32): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMT_chr22_19936772_19974975 | 19952985 | TAAATAAA others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(98): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(20): Show | a0001c0002t0001g0069 a0001c0002t0001g0083 a0001c0002t0001g0088 others(89): Show |
101 | 424 | 0.2382 | -17 | c.-91 others(34): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 176109009 | GGCTGAGG others(10): Show |
G | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 298 | 0.0034 | -17 | c.102 others(36): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 9/19 | chr1 | TogoVar | |||||||
COPA_chr1_160283594_160348250 | 160318475 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02109.hp1 HG02257.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0007a0002c0003t0006 | a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0015 others(18): Show |
25 | 361 | 0.0693 | -17 | c.707 others(34): Show |
COPA | ENSG00000122218.17 | transcript | ENST00000241704.8 | protein_coding | 8/32 | chr1 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18900164 | ATGGTGGG others(10): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0193 | 1 | 327 | 0.0031 | -17 | c.804 others(32): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 8/9 | chr19 | TogoVar | |||||||
COPS4_chr4_83030183_83080818 | 83064869 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0328 | 1 | 41 | 0.0244 | -17 | c.887 others(34): Show |
COPS4 | ENSG00000138663.9 | transcript | ENST00000264389.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
COPS5_chr8_67038079_67067133 | 67056649 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG03834.hp2 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0028 |
2 | 280 | 0.0071 | -17 | c.574 others(30): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
COPS5_chr8_67038079_67067133 | 67056651 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0058 |
2 | 261 | 0.0077 | -17 | c.574 others(30): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
COPS5_chr8_67038079_67067133 | 67056653 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01261.hp2 NA19000.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0065 a0001c0001t0001g0122 others(1): Show |
4 | 222 | 0.0180 | -17 | c.574 others(30): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
COPZ1_chr12_54320131_54356846 | 54326961 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02965.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0066 a0001c0001t0002g0231 |
2 | 77 | 0.0260 | -17 | c.18+ others(32): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COQ3_chr6_99364401_99399195 | 99385989 | AAAAAGAA others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0120 |
2 | 432 | 0.0046 | -17 | c.107 others(34): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
COQ3_chr6_99364401_99399195 | 99396144 | CTTGGGAG others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0213 | 1 | 432 | 0.0023 | -17 | c.-19 others(28): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 1950 | chr6 | TogoVar | |||||||
COQ5_chr12_120498279_120534158 | 120526698 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 19 | 0.0526 | -17 | c.202 others(34): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
COQ5_chr12_120498279_120534158 | 120527988 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0130 a0001c0001t0001g0131 others(9): Show |
13 | 29 | 0.4483 | -17 | c.202 others(32): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
COQ6_chr14_73945302_73968670 | 73968291 | CTTCAGAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0116 | 1 | 454 | 0.0022 | -17 | c.*52 others(28): Show |
COQ6 | ENSG00000119723.17 | transcript | ENST00000334571.7 | protein_coding | 4622 | chr14 | TogoVar | |||||||
COQ8A_chr1_226935294_226992544 | 226983950 | CAGAGGGC others(10): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0227 | 1 | 410 | 0.0024 | -17 | c.125 others(33): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 10/14 | chr1 | TogoVar | |||||||
COQ8A_chr1_226935294_226992544 | 226989397 | GCCACCAG others(10): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034 | 1 | 410 | 0.0024 | -17 | c.*26 others(28): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1854 | chr1 | TogoVar | |||||||
COQ9_chr16_57442479_57466270 | 57453210 | CTAAGATG others(10): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 402 | 0.0025 | -17 | c.378 others(32): Show |
COQ9 | ENSG00000088682.14 | transcript | ENST00000262507.11 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98154339 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0177 | 1 | 340 | 0.0029 | -17 | c.201 others(34): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67733208 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp2 NA18952.hp2 NA18981.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0004c0005t0001g0117 |
3 | 142 | 0.0211 | -17 | c.116 others(36): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 17000188 | TCACACTT others(10): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00741.hp2 others(60): Show |
a0002a0007a0017others(31): Show | a0002c0017a0002c0018a0002c0019others(50): Show | a0002c0017t0001a0002c0018t0001a0002c0019t0001others(50): Show | a0002c0017t0001g0112 a0002c0017t0001g0113 a0002c0017t0001g0162 others(60): Show |
63 | 276 | 0.2283 | -17 | c.867 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 10/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 17001967 | GAGGGAGG others(10): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0180 | a0004c0180t0001 | a0004c0180t0001g0041 | 1 | 276 | 0.0036 | -17 | c.758 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 9/41 | chr19 | TogoVar | |||||||
CPD_chr17_30373927_30474989 | 30412189 | CTGCAGAA others(10): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0137 | 1 | 294 | 0.0034 | -17 | c.995 others(34): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82579918 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02735.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0025a0002c0002t0003 | a0001c0001t0025g0209 a0002c0002t0003g0340 |
2 | 14 | 0.1429 | -17 | c.272 others(34): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar |