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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC127_chr5_191868_223153 | 196637 | AGTGTGTC others(77): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(131): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0021others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(77): Show |
134 | 406 | 0.3301 | -84 | c.*85 others(95): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 230 | chr5 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 196646 | TCACCCCA others(77): Show |
T | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0076 | 1 | 406 | 0.0025 | -84 | c.*85 others(95): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 221 | chr5 | TogoVar | |||||||
CCDC38_chr12_95862048_95947614 | 95908600 | AGAGGGAG others(77): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0124 | 1 | 350 | 0.0029 | -84 | c.305 others(101): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | |||||||
CCL17_chr16_57399767_57421063 | 57403116 | TTATAATA others(77): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01928.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0020 |
7 | 388 | 0.0180 | -84 | c.-17 others(95): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1650 | chr16 | TogoVar | |||||||
CD300C_chr17_74536073_74551115 | 74546920 | CTCCACCT others(77): Show |
C | upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 408 | 0.0025 | -84 | c.-12 others(95): Show |
CD300C | ENSG00000167850.4 | transcript | ENST00000330793.2 | protein_coding | 806 | chr17 | TogoVar | |||||||
CDH18_chr5_19466296_19993200 | 19849587 | TATATATA others(77): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 138 | 0.0073 | -84 | c.-25 others(105): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
CDH8_chr16_61642250_62041438 | 61901966 | TTATATTT others(77): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0044 | a0001c0001t0043g0110 a0001c0001t0044g0038 |
2 | 168 | 0.0119 | -84 | c.253 others(99): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CEACAM16_chr19_44694151_44715718 | 44709515 | ACCATGTC others(77): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 450 | 0.0022 | -84 | c.126 others(101): Show |
CEACAM16 | ENSG00000213892.12 | transcript | ENST00000587331.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEACAM16_chr19_44694151_44715718 | 44709726 | CCATGTCT others(77): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 450 | 0.0022 | -84 | c.126 others(101): Show |
CEACAM16 | ENSG00000213892.12 | transcript | ENST00000587331.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47541709 | AGAAAGAA others(77): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp2 HG02698.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0217 a0001c0001t0002g0305 a0001c0001t0002g0306 others(3): Show |
6 | 340 | 0.0177 | -84 | c.-15 others(105): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112688 | ATATATAA others(77): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 a0001c0001t0001g0276 |
2 | 320 | 0.0063 | -84 | c.754 others(103): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112785 | TATATATA others(77): Show |
T | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 320 | 0.0031 | -84 | c.754 others(103): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112841 | TATATATA others(77): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG02572.hp2 HG02970.hp1 others(3): Show |
a0001a0004a0018others(1): Show | a0001c0004a0004c0005a0018c0019others(1): Show | a0001c0004t0001a0004c0005t0001a0018c0019t0001others(1): Show | a0001c0004t0001g0293 a0004c0005t0001g0006 a0004c0005t0001g0076 others(2): Show |
6 | 320 | 0.0188 | -84 | c.754 others(103): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112897 | CATATATA others(77): Show |
C | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 320 | 0.0031 | -84 | c.754 others(103): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112925 | CATATATA others(77): Show |
C | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 320 | 0.0031 | -84 | c.754 others(103): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126865059 | TCCTCCTT others(77): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 216 | 0.0046 | -84 | c.495 others(103): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126865103 | CACCACCT others(77): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02004.hp1 HG02132.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0118 a0001c0001t0001g0141 a0002c0002t0001g0002 others(21): Show |
24 | 216 | 0.1111 | -84 | c.495 others(103): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126865149 | TTTTCCAC others(77): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 216 | 0.0046 | -84 | c.495 others(103): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89647564 | AGACCCAG others(77): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 392 | 0.0026 | -84 | c.253 others(99): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647817 | GACCCAGC others(77): Show |
G | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 392 | 0.0026 | -84 | c.253 others(99): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647858 | AGACCCAG others(77): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 392 | 0.0026 | -84 | c.253 others(99): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648320 | AGACCCAG others(77): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03516.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0061 a0001c0001t0006g0133 a0001c0001t0006g0134 |
3 | 392 | 0.0077 | -84 | c.252 others(99): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63339711 | CATCATAT others(77): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0134 | 1 | 168 | 0.0060 | -84 | c.*69 others(95): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 3511 | chr20 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33757387 | GAAGAAAG others(77): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0204 |
2 | 254 | 0.0079 | -84 | c.131 others(103): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26620110 | TGACTGAG others(77): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG01891.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0213 a0002c0003t0002g0038 a0002c0003t0002g0039 others(1): Show |
4 | 344 | 0.0116 | -84 | c.186 others(101): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CLN6_chr15_68201992_68234728 | 68227192 | CACACCTG others(77): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 324 | 0.0031 | -84 | c.83+ others(99): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10653990 | AGGAAATA others(77): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(32): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(13): Show | a0001c0001t0003g0005 a0001c0001t0003g0212 a0001c0001t0003g0221 others(32): Show |
35 | 320 | 0.1094 | -84 | c.11+ others(101): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140490011 | CATGTGTG others(77): Show |
C | intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0043 | 1 | 110 | 0.0091 | -84 | c.134 others(105): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47976220 | CATATATA others(77): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 a0001c0001t0003g0081 |
2 | 366 | 0.0055 | -84 | c.-15 others(101): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 147225773 | AGGAAGGA others(77): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0004 | 1 | 40 | 0.0250 | -84 | c.134 others(105): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COG1_chr17_73188055_73213507 | 73192846 | CCCCGCCC others(77): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0042 | 1 | 428 | 0.0023 | -84 | c.-22 others(93): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 208 | chr17 | TogoVar | |||||||
COL20A1_chr20_63288186_63339806 | 63335316 | ACCCTTCA others(77): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01106.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0006a0003c0003t0044 | a0003c0003t0006g0008 a0003c0003t0006g0035 a0003c0003t0006g0036 others(6): Show |
10 | 290 | 0.0345 | -84 | c.*46 others(95): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 511 | chr20 | TogoVar | |||||||
COL20A1_chr20_63288186_63339806 | 63339711 | CATCATAT others(77): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0047 | a0001c0047t0045 | a0001c0047t0045g0179 | 1 | 290 | 0.0035 | -84 | c.*89 others(95): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 4906 | chr20 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138691379 | ATGTGTGC others(77): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA19240.hp1 |
a0001a0016 | a0001c0008a0016c0030 | a0001c0008t0002a0016c0030t0004 | a0001c0008t0002g0093 a0016c0030t0004g0021 |
2 | 158 | 0.0127 | -84 | c.275 others(101): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134798569 | AGAGACAG others(77): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(107): Show | a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0073 others(164): Show |
168 | 272 | 0.6177 | -84 | c.295 others(101): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 37/65 | chr9 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119110388 | GGGCATTC others(77): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0150 | 1 | 388 | 0.0026 | -84 | c.*41 others(95): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1934 | chr8 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123772202 | ATCACCTC others(77): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0209 | 1 | 288 | 0.0035 | -84 | c.979 others(101): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123772418 | GCCCTGGG others(77): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0017 | 1 | 288 | 0.0035 | -84 | c.979 others(101): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28560847 | CGTGTGTG others(77): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 198 | 0.0051 | -84 | c.292 others(101): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240918923 | CGGCGTGG others(77): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03098.hp1 HG03225.hp1 others(1): Show |
a0013a0050 | a0013c0013a0050c0079 | a0013c0013t0001a0050c0079t0001 | a0013c0013t0001g0121 a0013c0013t0001g0122 a0013c0013t0001g0124 others(1): Show |
4 | 350 | 0.0114 | -84 | c.229 others(98): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240918978 | AGTCCTGG others(77): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0022 | a0022c0082 | a0022c0082t0001 | a0022c0082t0001g0111 | 1 | 350 | 0.0029 | -84 | c.229 others(99): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240919033 | GGGCTGGG others(77): Show |
G | intron_variant | MODIFIER | HG02148.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0044 | 1 | 350 | 0.0029 | -84 | c.229 others(99): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240919073 | CGGGGCTG others(77): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01496.hp1 HG01891.hp1 others(33): Show |
a0004a0006a0009others(6): Show | a0004c0053a0006c0007a0006c0049others(7): Show | a0004c0053t0003a0006c0007t0001a0006c0007t0003others(9): Show | a0004c0053t0003g0218 a0006c0007t0001g0093 a0006c0007t0001g0094 others(33): Show |
36 | 350 | 0.1029 | -84 | c.229 others(99): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924726 | CCCCCACA others(77): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG03130.hp2 others(1): Show |
a0011a0023a0047 | a0011c0046a0023c0057a0023c0058others(1): Show | a0011c0046t0001a0023c0057t0001a0023c0058t0001others(1): Show | a0011c0046t0001g0171 a0023c0057t0001g0189 a0023c0058t0001g0172 others(1): Show |
4 | 350 | 0.0114 | -84 | c.489 others(99): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314851 | CCACTGCA others(77): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02165.hp2 HG03490.hp2 others(15): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0048 others(15): Show |
18 | 159 | 0.1132 | -84 | c.*53 others(95): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4917 | chrX | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666838 | AAAGAAAG others(77): Show |
A | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 238 | 0.0042 | -84 | c.-39 others(105): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19667016 | AAAGGAAG others(77): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG02258.hp2 HG02523.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0001c0001t0010a0002c0003t0005others(1): Show | a0001c0001t0001g0131 a0001c0001t0001g0149 a0001c0001t0001g0222 others(4): Show |
7 | 238 | 0.0294 | -84 | c.-39 others(105): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3021678 | GTCCGGAA others(77): Show |
G | intron_variant | MODIFIER | HG01934.hp2 HG02055.hp2 HG02129.hp1 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0039a0001c0003t0013a0001c0005t0002others(14): Show | a0001c0001t0039g0017 a0001c0003t0013g0026 a0001c0005t0002g0111 others(14): Show |
17 | 126 | 0.1349 | -84 | c.785 others(103): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 51/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3772414 | TATATATA others(77): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG02559.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0039a0001c0004t0020a0001c0005t0007others(9): Show | a0001c0001t0039g0017 a0001c0004t0020g0086 a0001c0005t0007g0070 others(9): Show |
12 | 126 | 0.0952 | -84 | c.819 others(103): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4486122 | CATATATA others(77): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0020 | a0001c0020t0016 | a0001c0020t0016g0065 | 1 | 126 | 0.0079 | -84 | c.303 others(103): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar |