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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDC42_chr1_22047709_22106360 | 22054909 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 329 | 0.0030 | -46 | c.-51 others(63): Show |
CDC42 | ENSG00000070831.18 | transcript | ENST00000656825.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDH12_chr5_21745673_22858344 | 22117478 | TTATATAT others(39): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0017a0001c0001t0018others(2): Show | a0001c0001t0002g0021 a0001c0001t0017g0045 a0001c0001t0018g0025 others(3): Show |
6 | 52 | 0.1154 | -46 | c.-18 others(67): Show |
CDH12 | ENSG00000154162.15 | transcript | ENST00000382254.6 | protein_coding | 4/14 | chr5 | TogoVar | |||||||
CDH13_chr16_82621969_83805640 | 82842093 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG00642.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0060 a0001c0001t0002g0040 a0001c0001t0006g0096 others(13): Show |
16 | 110 | 0.1455 | -46 | c.46- others(63): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH13_chr16_82621969_83805640 | 82842095 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG01255.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0023 a0001c0001t0002g0026 a0001c0001t0007g0009 others(8): Show |
11 | 101 | 0.1089 | -46 | c.46- others(63): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89176679 | TGAAGGAG others(39): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 6 | 359 | 0.0167 | -46 | c.43- others(61): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89182095 | TCCCCTCC others(39): Show |
T | intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 404 | 0.0025 | -46 | c.358 others(63): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89188357 | GATGCCGG others(39): Show |
G | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 404 | 0.0025 | -46 | c.978 others(61): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89188666 | CCACACAC others(39): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0152 | 1 | 404 | 0.0025 | -46 | c.978 others(61): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61565344 | TCCTCTTG others(39): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01358.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0046 a0001c0001t0002g0058 a0001c0001t0008g0021 others(4): Show |
7 | 106 | 0.0660 | -46 | c.170 others(67): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | chr20 | TogoVar | |||||||
CDHR5_chr11_611583_629955 | 628909 | CTTTCTTT others(39): Show |
C | upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -46 | c.-40 others(57): Show |
CDHR5 | ENSG00000099834.19 | transcript | ENST00000397542.7 | protein_coding | 3955 | chr11 | TogoVar | |||||||
CDK12_chr17_39456486_39539544 | 39481666 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 258 | 0.0039 | -46 | c.193 others(65): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDK5RAP1_chr20_33353839_33406519 | 33389467 | GCAGCCGC others(39): Show |
G | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 356 | 0.0028 | -46 | c.545 others(63): Show |
CDK5RAP1 | ENSG00000101391.21 | transcript | ENST00000346416.7 | protein_coding | 5/13 | chr20 | TogoVar | |||||||
CDYL_chr6_4771404_4960544 | 4895358 | TGTGCATA others(39): Show |
T | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 248 | 0.0040 | -46 | c.691 others(63): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17561754 | CATGTGCT others(39): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03209.hp1 |
a0001a0002 | a0001c0009a0002c0002 | a0001c0009t0021a0002c0002t0013 | a0001c0009t0021g0273 a0002c0002t0013g0323 |
2 | 322 | 0.0062 | -46 | c.*89 others(57): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 3604 | chr22 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80946308 | TTGATGCC others(39): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02109.hp2 HG02647.hp2 others(7): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0009a0001c0022others(3): Show | a0001c0001t0004a0001c0009t0006a0001c0022t0005others(3): Show | a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 others(7): Show |
10 | 79 | 0.1266 | -46 | c.-49 others(57): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4571 | chr14 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84225692 | CATACAAG others(39): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02257.hp1 others(5): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0008others(2): Show | a0001c0004t0007a0001c0005t0005a0001c0008t0005others(2): Show | a0001c0004t0007g0202 a0001c0005t0005g0203 a0001c0008t0005g0198 others(5): Show |
8 | 212 | 0.0377 | -46 | c.57+ others(59): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 2/26 | chr6 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12693746 | GCACTCCA others(39): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 378 | 0.0026 | -46 | c.804 others(63): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 6/11 | chr18 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437940 | CACACACG others(39): Show |
C | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 385 | 0.0026 | -46 | c.*10 others(57): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 594 | chr9 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96664731 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0040 | a0040c0079 | a0040c0079t0001 | a0040c0079t0001g0184 | 1 | 244 | 0.0041 | -46 | c.556 others(63): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104396369 | TGAGAGAG others(39): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(6): Show |
9 | 55 | 0.1636 | -46 | c.167 others(65): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104396394 | GAGAGAGA others(39): Show |
G | intron_variant | MODIFIER | HG02976.hp2 HG03486.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 |
3 | 306 | 0.0098 | -46 | c.167 others(65): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73284737 | CACATATA others(39): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(56): Show |
a0002a0009 | a0002c0002a0009c0014 | a0002c0002t0001a0009c0014t0001 | a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 others(56): Show |
59 | 206 | 0.2864 | -46 | c.244 others(65): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFTR_chr7_117475025_117673665 | 117612008 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0003t0003a0001c0004t0002others(6): Show | a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 others(35): Show |
39 | 200 | 0.1950 | -46 | c.336 others(63): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60678649 | GGCGCGGG others(39): Show |
G | upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0032 | 1 | 234 | 0.0043 | -46 | c.-60 others(55): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 90 | chr8 | TogoVar | |||||||
CHP2_chr16_23750026_23763935 | 23763086 | TGTTGTTA others(39): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 390 | 0.0026 | -46 | c.*55 others(57): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4152 | chr16 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63366105 | AACTCCCT others(39): Show |
A | upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 165 | 0.0061 | -46 | c.-49 others(57): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4757 | chr20 | TogoVar | |||||||
CHRNB4_chr15_78619111_78646210 | 78632207 | TTCTTTCT others(39): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG01192.hp2 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0141 a0001c0001t0002g0003 a0001c0001t0003g0106 others(3): Show |
9 | 414 | 0.0217 | -46 | c.205 others(61): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2406375 | CACAGTTG others(39): Show |
C | intron_variant | MODIFIER | HG02809.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0288a0001c0001t0289 | a0001c0001t0288g0102 a0001c0001t0289g0103 |
2 | 342 | 0.0058 | -46 | c.-78 others(63): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2406433 | TGGGGTGG others(39): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp2 others(87): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0005a0001c0001t0026a0001c0001t0027others(74): Show | a0001c0001t0005g0009 a0001c0001t0005g0011 a0001c0001t0005g0033 others(85): Show |
90 | 337 | 0.2671 | -46 | c.-78 others(63): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130143726 | GTGTGTGT others(39): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0067 | 1 | 269 | 0.0037 | -46 | c.108 others(67): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CIAO3_chr16_724765_745997 | 735007 | CGTGGGGA others(39): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0004 | a0003c0004t0012 | a0003c0004t0012g0082 | 1 | 396 | 0.0025 | -46 | c.440 others(61): Show |
CIAO3 | ENSG00000103245.14 | transcript | ENST00000251588.7 | protein_coding | 4/10 | chr16 | TogoVar | |||||||
CIRBP_chr19_1264332_1279810 | 1269197 | GGGGCGGA others(39): Show |
G | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0017 | 1 | 278 | 0.0036 | -46 | c.-21 others(55): Show |
CIRBP | ENSG00000099622.14 | transcript | ENST00000587896.6 | protein_coding | 134 | chr19 | TogoVar | |||||||
CLASRP_chr19_45034045_45075956 | 45073363 | TGCCCAGG others(39): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0180 a0001c0001t0001g0181 others(2): Show |
5 | 362 | 0.0138 | -46 | c.*25 others(57): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 2408 | chr19 | TogoVar | |||||||
CLDN16_chr3_190383163_190417138 | 190416498 | TGCAAGCT others(39): Show |
T | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 436 | 0.0023 | -46 | c.*64 others(57): Show |
CLDN16 | ENSG00000113946.4 | transcript | ENST00000264734.3 | protein_coding | 4361 | chr3 | TogoVar | |||||||
CLIC5_chr6_45893456_46020860 | 46006093 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01258.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0181 a0001c0001t0002g0024 others(5): Show |
8 | 191 | 0.0419 | -46 | c.63+ others(61): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123118955 | TTCTTTCT others(39): Show |
T | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0052 | 1 | 250 | 0.0040 | -46 | c.29- others(63): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123118959 | TTCTTTCT others(39): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 a0001c0001t0002g0248 |
2 | 246 | 0.0081 | -46 | c.29- others(63): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763538 | CCGCCCCC others(39): Show |
C | upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0002 | 1 | 411 | 0.0024 | -46 | c.-47 others(55): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 250 | chr8 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763555 | CCGCCCCC others(39): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034 | a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0034g0115 |
3 | 412 | 0.0073 | -46 | c.-45 others(55): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 233 | chr8 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1789323 | GCTTGCCC others(39): Show |
G | downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 412 | 0.0024 | -46 | c.*87 others(57): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 2754 | chr8 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2693495 | ACAGCCCT others(39): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(121): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0024a0001c0025others(11): Show | a0001c0003t0001a0001c0024t0003a0001c0025t0003others(15): Show | a0001c0003t0001g0024 a0001c0003t0001g0027 a0001c0003t0001g0028 others(76): Show |
124 | 418 | 0.2967 | -46 | c.323 others(63): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 19/25 | chr17 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2881554 | AAGTGAGT others(39): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(85): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0050 others(85): Show |
88 | 101 | 0.8713 | -46 | c.653 others(63): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146151652 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005 | a0001c0001t0001g0003 a0001c0004t0005g0004 |
2 | 39 | 0.0513 | -46 | c.97+ others(63): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146721540 | CTATATAT others(39): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018 | 1 | 40 | 0.0250 | -46 | c.98- others(63): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76373121 | TATAAATA others(39): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0016 | a0016c0037 | a0016c0037t0006 | a0016c0037t0006g0171 | 1 | 257 | 0.0039 | -46 | c.390 others(65): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70482884 | TTCTCCCC others(39): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 352 | 0.0028 | -46 | c.182 others(62): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 14/18 | chr16 | TogoVar | |||||||
COL14A1_chr8_120120102_120378573 | 120200711 | CTATTTAT others(39): Show |
C | intron_variant | MODIFIER | HG03098.hp1 HG03225.hp1 HG03486.hp2 |
a0001a0003 | a0001c0007a0003c0010 | a0001c0007t0001a0003c0010t0002a0003c0010t0007 | a0001c0007t0001g0216 a0003c0010t0002g0048 a0003c0010t0007g0055 |
3 | 213 | 0.0141 | -46 | c.877 others(63): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437899 | CTCACTCA others(39): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02145.hp2 HG04204.hp2 |
a0001 | a0001c0001a0001c0007a0001c0052 | a0001c0001t0001a0001c0007t0002a0001c0052t0002 | a0001c0001t0001g0122 a0001c0007t0002g0056 a0001c0052t0002g0055 |
3 | 290 | 0.0103 | -46 | c.107 others(65): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | chr21 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138698781 | AGGTGAGA others(39): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0005 | a0001c0001t0002g0020 a0001c0002t0005g0147 |
2 | 156 | 0.0128 | -46 | c.259 others(65): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 32/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138813610 | CAAGGGGC others(39): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(109): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0006others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0081 others(109): Show |
112 | 156 | 0.7179 | -46 | c.124 others(63): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 7/64 | chr8 | TogoVar |