view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL9_chr1_147536501_147631216 | 147541070 | TGAGAGAG others(54): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0216a0001c0001t0011g0058 | 2 | 316 | 0.0063 | -61 | c.-10 others(72): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 430 | chr1 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100080779 | ATGATTGG others(54): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02809.hp1 HG03098.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0178a0005c0006t0001g0179a0005c0006t0001g0180others(2): Show | 5 | 188 | 0.0266 | -61 | c.140 others(80): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 11/20 | chr12 | TogoVar | |||||||
BMERB1_chr16_15429588_15593259 | 15480563 | ATTATATA others(54): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0026a0001c0001t0010g0025 | 2 | 291 | 0.0069 | -61 | c.107 others(80): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39217027 | ATATATAT others(54): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0003 | a0004c0003t0008 | a0004c0003t0008g0033 | 1 | 338 | 0.0030 | -61 | c.365 others(80): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39217031 | ATATAAAT others(54): Show |
A | intron_variant | MODIFIER | HG03471.hp1 HG03579.hp1 NA19240.hp2 |
a0005 | a0005c0007 | a0005c0007t0021a0005c0007t0038a0005c0007t0070 | a0005c0007t0021g0174a0005c0007t0038g0138a0005c0007t0070g0289 | 3 | 338 | 0.0089 | -61 | c.365 others(80): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BSG_chr19_567596_588493 | 581009 | GGACTGGG others(54): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0015 | a0001c0015t0004 | a0001c0015t0004g0065 | 1 | 306 | 0.0033 | -61 | c.793 others(76): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C1QTNF12_chr1_1237453_1251722 | 1240399 | ACCCCGAC others(54): Show |
A | downstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 328 | 0.0031 | -61 | c.*20 others(72): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 2053 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078254 | TCCGTGGG others(54): Show |
T | downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 326 | 0.0031 | -61 | c.*45 others(72): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3568 | chr1 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404009 | GGGGTCCT others(54): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0136 | a0001c0001t0136g0109 | 1 | 322 | 0.0031 | -61 | c.*30 others(72): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1435 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404254 | GGGGGACG others(54): Show |
G | downstream_gene_variant | MODIFIER | NA18997.hp2 NA19060.hp1 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0070 | a0001c0002t0011g0007a0001c0002t0070g0131 | 2 | 322 | 0.0062 | -61 | c.*27 others(72): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1190 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404576 | GGGACGGG others(54): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0089a0001c0004t0004 | a0001c0001t0089g0048a0001c0004t0004g0004 | 2 | 322 | 0.0062 | -61 | c.*24 others(72): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 868 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404608 | GGAGACGG others(54): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0005 | a0002c0005t0035 | a0002c0005t0035g0146 | 1 | 322 | 0.0031 | -61 | c.*24 others(72): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 836 | chr19 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121024241 | GGGGGGAG others(54): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0204 | 1 | 276 | 0.0036 | -61 | c.100 others(78): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar | |||||||
CA7_chr16_66839414_66859147 | 66857195 | AGTGTCCC others(54): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 394 | 0.0025 | -61 | c.*36 others(72): Show |
CA7 | ENSG00000168748.14 | transcript | ENST00000338437.7 | protein_coding | 3049 | chr16 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138126343 | TGGCCGCC others(54): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0109 | 1 | 248 | 0.0040 | -61 | c.*43 others(72): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1725 | chr9 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72109877 | AAAAAATG others(54): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 142 | 0.0070 | -61 | c.245 others(78): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12694523 | TGATATAT others(54): Show |
T | intron_variant | MODIFIER | HG03486.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0139a0001c0001t0011g0009 | 2 | 214 | 0.0094 | -61 | c.299 others(80): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 553056 | CTGCCCCC others(54): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01081.hp1 HG01106.hp1 others(17): Show |
a0001a0003a0026others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0115a0001c0001t0002g0142a0001c0001t0002g0159others(17): Show | 20 | 410 | 0.0488 | -61 | c.308 others(77): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38344791 | CCTGTACA others(54): Show |
C | intron_variant | MODIFIER | HG01934.hp2 NA18945.hp2 NA18951.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0104a0003c0004t0001g0107a0003c0004t0001g0128others(4): Show | 7 | 376 | 0.0186 | -61 | c.669 others(76): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 6/28 | chr19 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105804295 | TGGATCAC others(54): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0023a0001c0023t0023 | a0001c0001t0023g0304a0001c0023t0023g0303 | 2 | 380 | 0.0053 | -61 | c.420 others(80): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CCDC102B_chr18_68793080_69060189 | 68942882 | ACATGGGG others(54): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0194 | 1 | 216 | 0.0046 | -61 | c.126 others(82): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC169_chr13_36225775_36302814 | 36244777 | CAGTGGTC others(54): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(175): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(133): Show | 178 | 364 | 0.4890 | -61 | c.545 others(78): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
CCDC85C_chr14_99495190_99609207 | 99520437 | GATCACGG others(54): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(132): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0129a0001c0001t0002g0088a0001c0001t0002g0089others(130): Show | 135 | 300 | 0.4500 | -61 | c.975 others(78): Show |
CCDC85C | ENSG00000205476.9 | transcript | ENST00000380243.9 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
CCM2_chr7_44995201_45081453 | 45078643 | ATGAGGGG others(54): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0007a0001c0008t0001g0008a0001c0008t0001g0009others(2): Show | 5 | 316 | 0.0158 | -61 | c.*25 others(72): Show |
CCM2 | ENSG00000136280.17 | transcript | ENST00000258781.11 | protein_coding | 2191 | chr7 | TogoVar | |||||||
CCSER1_chr4_90122394_91610295 | 90648513 | AACCACCA others(54): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG02109.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0024a0001c0001t0001g0032a0001c0001t0002g0027others(12): Show | 15 | 38 | 0.3947 | -61 | c.193 others(82): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CD101_chr1_116996760_117041552 | 117029196 | AAAGAAAG others(54): Show |
A | intron_variant | MODIFIER | HG02717.hp1 NA20300.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0342a0005c0007t0001g0374 | 2 | 426 | 0.0047 | -61 | c.282 others(80): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDH3_chr16_68640310_68705292 | 68683651 | CAAAAAAA others(54): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02683.hp1 |
a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0202a0001c0007t0012g0203 | 2 | 338 | 0.0059 | -61 | c.118 others(78): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44668366 | GTTTATAT others(54): Show |
G | upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 390 | 0.0026 | -61 | c.-35 others(72): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3115 | chr19 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65970430 | GCACACAT others(54): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG02027.hp1 HG03041.hp1 others(3): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0046a0001c0002t0001g0050a0001c0002t0001g0051others(3): Show | 6 | 112 | 0.0536 | -61 | c.173 others(80): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 637886 | TGGCGGGG others(54): Show |
T | intron_variant | MODIFIER | NA18950.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0065 | 2 | 91 | 0.0220 | -61 | c.120 others(77): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168547483 | AATCCTAC others(54): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0175a0001c0001t0002g0052a0001c0001t0003g0006others(4): Show | 7 | 176 | 0.0398 | -61 | c.171 others(75): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20355752 | ATGAGCAG others(54): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG03209.hp1 HG03486.hp2 others(2): Show |
a0001a0002a0025 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0003t0003a0002c0002t0003others(1): Show | a0001c0001t0003g0119a0001c0001t0003g0139a0001c0003t0003g0142others(2): Show | 5 | 236 | 0.0212 | -61 | c.351 others(80): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18248649 | TTATATAC others(54): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0301a0001c0001t0011g0302 | 2 | 402 | 0.0050 | -61 | c.79+ others(76): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHRAC1_chr8_140506322_140522154 | 140521556 | GATCGCCA others(54): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -61 | c.*63 others(72): Show |
CHRAC1 | ENSG00000104472.10 | transcript | ENST00000220913.10 | protein_coding | 4403 | chr8 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33757495 | AAAGAAAG others(54): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 254 | 0.0039 | -61 | c.131 others(80): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLDN8_chr21_30209006_30221097 | 30210355 | CATATATA others(54): Show |
C | downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 466 | 0.0022 | -61 | c.*48 others(72): Show |
CLDN8 | ENSG00000156284.6 | transcript | ENST00000399899.2 | protein_coding | 3650 | chr21 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95245193 | TAATATAT others(54): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0007 | a0003c0007t0043 | a0003c0007t0043g0048 | 1 | 276 | 0.0036 | -61 | c.83- others(78): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95258993 | GTGTGTTT others(54): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0022 | a0001c0001t0003g0111a0001c0001t0005g0270a0001c0002t0022g0050 | 3 | 276 | 0.0109 | -61 | c.83- others(78): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763537 | CCCGCCCC others(54): Show |
C | upstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 413 | 0.0024 | -61 | c.-47 others(70): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 251 | chr8 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172742 | AGGGAGAG others(54): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 NA19240.hp2 |
a0002a0010 | a0002c0003a0010c0012 | a0002c0003t0001a0010c0012t0001 | a0002c0003t0001g0012a0010c0012t0001g0013 | 2 | 322 | 0.0062 | -61 | c.*33 others(72): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2573 | chr2 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87136673 | AATTATAT others(54): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01069.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(14): Show | 17 | 152 | 0.1118 | -61 | c.432 others(80): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136702 | AATTATAT others(54): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 152 | 0.0066 | -61 | c.432 others(80): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136824 | ATATTATA others(54): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093 | 1 | 152 | 0.0066 | -61 | c.432 others(80): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11555262 | AAAAAAAA others(54): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 392 | 0.0026 | -61 | c.*54 others(72): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 4940 | chr19 | TogoVar | |||||||
CNTLN_chr9_17130040_17508923 | 17390513 | GGATTACA others(54): Show |
G | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 218 | 0.0046 | -61 | c.207 others(80): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 14/25 | chr9 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2389252 | CTATCTTC others(54): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00738.hp2 others(12): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0004others(8): Show | a0001c0001t0005g0018a0001c0001t0005g0019a0001c0001t0005g0054others(12): Show | 15 | 116 | 0.1293 | -61 | c.-89 others(80): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2389262 | GTGGCTGC others(54): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(89): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0012a0001c0001t0001g0033a0001c0001t0001g0049others(89): Show | 92 | 116 | 0.7931 | -61 | c.-89 others(80): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99185826 | CGGAGAGG others(54): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG00735.hp1 others(62): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0020others(62): Show | 65 | 66 | 0.9849 | -61 | c.-20 others(84): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99598277 | TTCTTTTC others(54): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02004.hp1 HG02132.hp2 others(4): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0007 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(2): Show | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(4): Show | 7 | 66 | 0.1061 | -61 | c.55+ others(78): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146285821 | TCGCCTCC others(54): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG03540.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0010a0001c0003t0011 | a0001c0002t0010g0002a0001c0003t0011g0023 | 2 | 40 | 0.0500 | -61 | c.97+ others(80): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |