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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105871084 | G | GTTT | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG01952.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0249 others(13): Show |
16 | 115 | 0.1391 | 3 | c.250 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105875627 | A | ACCC | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00642.hp1 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(45): Show |
48 | 101 | 0.4752 | 3 | c.250 others(18): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L2_chr1_109478905_109497734 | 109483792 | T | TGGG | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01106.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(4): Show |
32 | 96 | 0.3333 | 3 | c.-16 others(12): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 112 | chr1 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74539849 | G | GTGC | 3_prime_UTR_variant | MODIFIER | HG02015.hp1 NA18946.hp2 NA18975.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0019a0001c0002t0034 | a0001c0002t0019g0000 a0001c0002t0034g0000 |
4 | 406 | 0.0099 | 3 | c.*14 others(14): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 1451 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATXN7L3B_chr12_74532835_74550430 | 74546484 | C | CCTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(400): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(75): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(75): Show |
403 | 406 | 0.9926 | 3 | c.*80 others(14): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1055 | chr12 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74547832 | T | TTTG | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01975.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0057a0001c0002t0013others(2): Show | a0001c0001t0002g0000 a0001c0001t0057g0000 a0001c0002t0013g0000 others(2): Show |
15 | 39 | 0.3846 | 3 | c.*94 others(14): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 2403 | chr12 | TogoVar | |||||||
ATXN7L3_chr17_44186805_44204884 | 44196777 | C | CAAA | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp1 HG02109.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0016 | a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0077 others(3): Show |
15 | 135 | 0.1111 | 3 | c.454 others(18): Show |
ATXN7L3 | ENSG00000087152.16 | transcript | ENST00000587097.6 | protein_coding | 5/12 | chr17 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63863951 | G | GCGC | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01934.hp2 HG02132.hp1 others(18): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0004c0013others(3): Show | a0001c0001t0001a0004c0006t0004a0004c0013t0004others(3): Show | a0001c0001t0001g0091 a0001c0001t0001g0129 a0004c0006t0004g0003 others(17): Show |
21 | 292 | 0.0719 | 3 | c.-29 others(12): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48620 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63865894 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00735.hp2 others(31): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0004others(9): Show | a0001c0001t0001a0002c0002t0002a0003c0004t0003others(11): Show | a0001c0001t0001g0148 a0002c0002t0002g0208 a0003c0004t0003g0175 others(31): Show |
34 | 139 | 0.2446 | 3 | c.-11 others(22): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63871864 | T | TAAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(45): Show |
a0003a0009a0014others(3): Show | a0003c0004a0003c0005a0003c0026others(7): Show | a0003c0004t0003a0003c0004t0016a0003c0004t0024others(12): Show | a0003c0004t0003g0160 a0003c0004t0003g0167 a0003c0004t0003g0168 others(45): Show |
48 | 264 | 0.1818 | 3 | c.-11 others(22): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63881254 | G | GAGT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(167): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0003a0003c0004others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(38): Show | a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0023 others(165): Show |
170 | 298 | 0.5705 | 3 | c.-11 others(24): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63903055 | T | TATC | intron_variant | MODIFIER | HG02559.hp1 HG03139.hp2 HG03516.hp2 |
a0004 | a0004c0013 | a0004c0013t0004 | a0004c0013t0004g0081 a0004c0013t0004g0137 a0004c0013t0004g0138 |
3 | 298 | 0.0101 | 3 | c.-12 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63912684 | G | GGCA | disruptive_inframe_insertion | MODERATE | HG00735.hp1 HG00738.hp2 HG01934.hp2 others(25): Show |
a0004 | a0004c0006a0004c0010a0004c0012others(4): Show | a0004c0006t0004a0004c0006t0042a0004c0010t0001others(6): Show | a0004c0006t0004g0003 a0004c0006t0004g0028 a0004c0006t0004g0131 others(24): Show |
28 | 234 | 0.1197 | 3 | c.116 others(10): Show |
p.Gln others(5): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 521/7076 | 119/2679 | 40/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ATXN7_chr3_63858867_64008462 | 63912697 | G | GCCC | disruptive_inframe_insertion | MODERATE | HG02055.hp1 HG02809.hp1 HG02965.hp1 others(4): Show |
a0007a0013 | a0007c0009a0013c0018 | a0007c0009t0010a0007c0009t0011a0007c0009t0045others(2): Show | a0007c0009t0010g0151 a0007c0009t0011g0154 a0007c0009t0011g0156 others(4): Show |
7 | 298 | 0.0235 | 3 | c.100 others(10): Show |
p.Gln others(14): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 503/7076 | 101/2679 | 34/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ATXN7_chr3_63858867_64008462 | 63962908 | C | CTAT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0092 a0001c0001t0002g0225 a0001c0001t0005g0078 others(80): Show |
83 | 277 | 0.2996 | 3 | c.499 others(22): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63998200 | A | AGGG | intron_variant | MODIFIER | HG01106.hp2 HG01261.hp1 HG01517.hp1 others(14): Show |
a0003a0018a0020others(1): Show | a0003c0004a0003c0005a0018c0035others(2): Show | a0003c0004t0003a0003c0004t0024a0003c0004t0025others(4): Show | a0003c0004t0003g0160 a0003c0004t0003g0169 a0003c0004t0003g0175 others(14): Show |
17 | 231 | 0.0736 | 3 | c.266 others(22): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 64007608 | T | TTTA | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02886.hp2 others(2): Show |
a0002a0004a0018 | a0002c0002a0004c0012a0018c0035 | a0002c0002t0019a0002c0002t0033a0002c0002t0035others(2): Show | a0002c0002t0019g0015 a0002c0002t0033g0013 a0002c0002t0035g0076 others(2): Show |
5 | 298 | 0.0168 | 3 | c.*81 others(14): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4147 | chr3 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91259375 | T | TCTC | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01106.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0071 a0001c0002t0001g0011 a0001c0002t0001g0016 others(28): Show |
32 | 356 | 0.0899 | 3 | c.655 others(22): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91346860 | T | TAAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0001g0067 others(23): Show |
27 | 333 | 0.0811 | 3 | c.418 others(20): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91362931 | C | CAAA | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(16): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0022 others(15): Show |
19 | 46 | 0.4130 | 3 | c.-10 others(14): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 1014 | chr9 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25831864 | A | AGAT | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02523.hp2 NA18974.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0007c0006t0001 | a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0076 others(1): Show |
4 | 350 | 0.0114 | 3 | c.*31 others(14): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 2141 | chr1 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25834615 | C | CAAA | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02559.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0019 | a0001c0001t0011g0189 a0001c0001t0011g0191 a0001c0001t0011g0193 others(3): Show |
6 | 33 | 0.1818 | 3 | c.*37 others(12): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 3/3 | 377 | chr1 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25838084 | C | CAAA | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0014 | a0001c0001t0004g0205 a0001c0001t0006g0199 a0001c0001t0006g0200 others(4): Show |
7 | 325 | 0.0215 | 3 | c.79- others(16): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25843594 | G | GAAA | intron_variant | MODIFIER | NA18964.hp1 NA18972.hp1 NA18987.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0001t0001g0079 others(5): Show |
9 | 245 | 0.0367 | 3 | c.79- others(18): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25848465 | A | AGTT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(78): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0050 others(62): Show |
81 | 350 | 0.2314 | 3 | c.78+ others(20): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25856679 | A | AAAC | intron_variant | MODIFIER | HG01099.hp1 HG02622.hp1 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0004 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0009g0043 others(4): Show |
9 | 350 | 0.0257 | 3 | c.78+ others(18): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8201733 | C | CAAA | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG01257.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(3): Show |
23 | 198 | 0.1162 | 3 | c.*31 others(14): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 3000 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8208636 | T | TAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00621.hp1 others(70): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0024 others(7): Show |
73 | 383 | 0.1906 | 3 | c.49- others(16): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214921 | C | CTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(70): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0002c0002t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 others(21): Show |
73 | 360 | 0.2028 | 3 | c.-44 others(14): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4347 | chr17 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57239905 | C | CTTT | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01516.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 245 | 0.0408 | 3 | c.*44 others(14): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4358 | chr19 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57239906 | T | TTTC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 others(11): Show |
101 | 408 | 0.2475 | 3 | c.*44 others(14): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4359 | chr19 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69598553 | G | GGCA | 5_prime_UTR_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0006a0001c0001t0011a0001c0001t0014others(3): Show | a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0011g0041 others(4): Show |
7 | 76 | 0.0921 | 3 | c.-10 others(14): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/19 | 1086 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 69598633 | A | AGCG | 5_prime_UTR_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0006a0001c0001t0011a0001c0001t0014others(3): Show | a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0011g0041 others(4): Show |
7 | 76 | 0.0921 | 3 | c.-10 others(14): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/19 | 1000 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 69623381 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG02165.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0058 a0001c0001t0002g0047 a0001c0001t0002g0049 others(13): Show |
16 | 30 | 0.5333 | 3 | c.309 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69636480 | G | GCCC | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01081.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0002g0047 others(15): Show |
18 | 24 | 0.7500 | 3 | c.309 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69636660 | G | GTGT | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0072 others(3): Show |
6 | 76 | 0.0789 | 3 | c.309 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69659583 | G | GTTT | intron_variant | MODIFIER | HG00597.hp2 HG01433.hp2 HG01934.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0045 a0001c0001t0003g0066 a0001c0001t0004g0042 others(2): Show |
5 | 46 | 0.1087 | 3 | c.309 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69671486 | G | GTGT | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01433.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0044 a0001c0001t0002g0047 a0001c0001t0002g0049 others(12): Show |
15 | 41 | 0.3659 | 3 | c.309 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69675505 | G | GTTT | intron_variant | MODIFIER | HG01081.hp2 HG03041.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0015a0001c0001t0016others(2): Show | a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0015g0002 others(3): Show |
6 | 41 | 0.1463 | 3 | c.309 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69750472 | T | TTAG | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0028others(9): Show | a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(15): Show |
18 | 74 | 0.2432 | 3 | c.310 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69838301 | T | TTGA | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01081.hp1 others(19): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(19): Show |
22 | 76 | 0.2895 | 3 | c.310 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69850398 | C | CAAA | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0044 a0001c0001t0002g0049 a0001c0001t0002g0052 others(4): Show |
7 | 9 | 0.7778 | 3 | c.310 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69872834 | C | CTTT | intron_variant | MODIFIER | HG00597.hp1 HG02630.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(5): Show | a0001c0001t0001g0071 a0001c0001t0005g0028 a0001c0001t0015g0002 others(5): Show |
8 | 31 | 0.2581 | 3 | c.310 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876349 | A | ATAT | intron_variant | MODIFIER | HG02717.hp2 NA20752.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0032a0005c0009t0001 | a0001c0001t0032g0016 a0005c0009t0001g0043 |
2 | 41 | 0.0488 | 3 | c.310 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69891774 | C | CTTT | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG01243.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0004g0048 others(2): Show |
5 | 7 | 0.7143 | 3 | c.310 others(20): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69894252 | G | GTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01243.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0004g0056 others(3): Show |
6 | 19 | 0.3158 | 3 | c.310 others(20): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69895543 | T | TCCC | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01934.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0005t0030others(3): Show | a0001c0001t0003g0068 a0001c0001t0005g0012 a0001c0001t0005g0015 others(4): Show |
7 | 42 | 0.1667 | 3 | c.310 others(20): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69917822 | T | TTTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 others(21): Show |
24 | 53 | 0.4528 | 3 | c.522 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69956913 | A | ATGT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01081.hp1 others(22): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(22): Show |
25 | 76 | 0.3289 | 3 | c.522 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69974951 | A | AAAG | intron_variant | MODIFIER | NA20752.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016 | a0001c0001t0015g0002 a0001c0001t0016g0003 |
2 | 76 | 0.0263 | 3 | c.522 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | chr7 | TogoVar |