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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9A_chr20_51591514_51773390 | 51729751 | A | AACATG | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01081.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0046others(12): Show | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0013g0060 others(18): Show |
21 | 310 | 0.0677 | 5 | c.213 others(18): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 2/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79086435 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(109): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0004a0001c0006others(13): Show | a0001c0001t0001a0001c0004t0003a0001c0006t0003others(21): Show | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(109): Show |
112 | 113 | 0.9912 | 5 | c.120 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79118390 | G | GGTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02056.hp1 HG02129.hp2 others(5): Show |
a0002a0005 | a0002c0002a0002c0005a0002c0032others(2): Show | a0002c0002t0002a0002c0005t0001a0002c0032t0005others(2): Show | a0002c0002t0002g0182 a0002c0002t0002g0210 a0002c0002t0002g0234 others(5): Show |
8 | 110 | 0.0727 | 5 | c.558 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79249401 | T | TAAAAC | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0004a0001c0039 | a0001c0004t0002a0001c0004t0003a0001c0039t0002 | a0001c0004t0002g0091 a0001c0004t0002g0092 a0001c0004t0002g0093 others(2): Show |
5 | 296 | 0.0169 | 5 | c.110 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256502 | T | TTTTTC | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0004a0001c0039 | a0001c0004t0002a0001c0004t0003a0001c0039t0002 | a0001c0004t0002g0091 a0001c0004t0002g0092 a0001c0004t0002g0093 others(2): Show |
5 | 296 | 0.0169 | 5 | c.126 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATPAF1_chr1_46627737_46673364 | 46646435 | C | CTGATA | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG02897.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0004 | a0001c0001t0003g0124 a0001c0001t0003g0125 a0002c0002t0004g0066 |
3 | 410 | 0.0073 | 5 | c.589 others(22): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
ATPAF1_chr1_46627737_46673364 | 46654527 | A | ATTTAT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(42): Show |
88 | 410 | 0.2146 | 5 | c.490 others(20): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
ATRIP_chr3_48441737_48472645 | 48449413 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02647.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0001a0001c0001t0018a0001c0001t0019others(3): Show | a0001c0001t0001g0100 a0001c0001t0018g0041 a0001c0001t0019g0040 others(4): Show |
12 | 126 | 0.0952 | 5 | c.248 others(20): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115223929 | A | ATTTTT | intron_variant | MODIFIER | HG01258.hp1 HG01515.hp2 HG01943.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0029others(4): Show | a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0008g0081 others(6): Show |
9 | 60 | 0.1500 | 5 | c.153 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115225475 | T | TTAATA | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0101 a0001c0001t0003g0111 a0001c0001t0010g0033 others(3): Show |
6 | 40 | 0.1500 | 5 | c.153 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115230922 | A | AGAGAG | intron_variant | MODIFIER | HG02615.hp1 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0049 a0001c0002t0004g0065 |
2 | 124 | 0.0161 | 5 | c.153 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | chr10 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115239221 | A | ATTATT | intron_variant | MODIFIER | NA19003.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0046a0001c0006t0033 | a0001c0001t0046g0106 a0001c0006t0033g0035 |
2 | 126 | 0.0159 | 5 | c.153 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115269884 | T | TTAATC | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(37): Show | a0001c0001t0001g0074 a0001c0001t0002g0014 a0001c0001t0002g0078 others(54): Show |
57 | 126 | 0.4524 | 5 | c.210 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115282065 | C | CATATA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(29): Show | a0001c0001t0001g0074 a0001c0001t0002g0014 a0001c0001t0002g0078 others(44): Show |
47 | 126 | 0.3730 | 5 | c.223 others(22): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115297134 | T | TCTTAA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00735.hp1 others(114): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0066 others(114): Show |
117 | 126 | 0.9286 | 5 | c.241 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115351742 | G | GTGTTT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(14): Show | a0001c0001t0001g0069 a0001c0001t0002g0113 a0001c0001t0002g0115 others(18): Show |
21 | 60 | 0.3500 | 5 | c.317 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115351742 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(1): Show | a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 others(3): Show |
6 | 45 | 0.1333 | 5 | c.317 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115368579 | G | GTACAA | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(3): Show | a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 others(5): Show |
8 | 126 | 0.0635 | 5 | c.317 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115632864 | T | TTTTTA | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01071.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0104 others(20): Show |
23 | 78 | 0.2949 | 5 | c.379 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115683548 | G | GTTTTT | intron_variant | MODIFIER | HG02132.hp1 HG02145.hp2 HG02723.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0013a0002c0008t0011 | a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0013g0018 others(1): Show |
4 | 39 | 0.1026 | 5 | c.379 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115713705 | C | CTATCT | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0019a0001c0001t0042others(1): Show | a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0019g0019 others(2): Show |
5 | 58 | 0.0862 | 5 | c.379 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115743238 | T | TAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0067 others(54): Show |
57 | 64 | 0.8906 | 5 | c.390 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115802046 | A | ACACAC | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0016others(2): Show | a0001c0001t0014g0001 a0001c0001t0015g0062 a0001c0001t0016g0031 others(2): Show |
5 | 48 | 0.1042 | 5 | c.390 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115868822 | C | CTTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0007a0001c0001t0017a0001c0006t0013others(2): Show | a0001c0001t0007g0027 a0001c0001t0017g0028 a0001c0006t0013g0029 others(2): Show |
5 | 15 | 0.3333 | 5 | c.401 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3519006 | T | TAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01106.hp1 others(6): Show |
a0001a0003a0016 | a0001c0007a0003c0008a0003c0017others(2): Show | a0001c0007t0006a0003c0008t0005a0003c0008t0029others(3): Show | a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 others(6): Show |
9 | 170 | 0.0529 | 5 | c.411 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3588981 | G | GTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp1 HG01175.hp2 others(16): Show |
a0001a0006a0011others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0048 others(16): Show |
19 | 45 | 0.4222 | 5 | c.318 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3620219 | A | AGTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG01891.hp2 others(16): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0012others(11): Show | a0001c0001t0005g0121 a0001c0001t0010g0011 a0001c0001t0010g0025 others(16): Show |
19 | 79 | 0.2405 | 5 | c.380 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3641590 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0010a0001c0001t0014a0001c0002t0004others(5): Show | a0001c0001t0010g0025 a0001c0001t0014g0010 a0001c0002t0004g0124 others(8): Show |
11 | 63 | 0.1746 | 5 | c.405 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3647278 | A | ATTAAC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(68): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(203): Show |
206 | 218 | 0.9450 | 5 | c.*43 others(14): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 29/29 | 434 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77530633 | C | CAAACA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(120): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0084 a0001c0001t0001g0197 a0001c0001t0001g0198 others(120): Show |
123 | 211 | 0.5829 | 5 | c.670 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77549955 | A | AAAATG | intron_variant | MODIFIER | HG02451.hp1 HG04199.hp1 NA18970.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0002g0181 a0001c0001t0007g0065 a0001c0001t0008g0004 others(3): Show |
6 | 210 | 0.0286 | 5 | c.669 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77585583 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp1 HG01928.hp1 others(4): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0003a0002c0004t0001others(1): Show | a0002c0002t0001g0026 a0002c0002t0001g0062 a0002c0002t0001g0155 others(4): Show |
7 | 17 | 0.4118 | 5 | c.621 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01516.hp2 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0084 a0001c0001t0001g0131 a0001c0001t0002g0184 others(3): Show |
6 | 22 | 0.2727 | 5 | c.455 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAATAT | intron_variant | MODIFIER | HG00558.hp1 HG01975.hp2 HG02015.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0140 a0001c0001t0002g0184 a0001c0001t0003g0196 others(8): Show |
11 | 73 | 0.1507 | 5 | c.380 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | ATATAT | intron_variant | MODIFIER | HG03225.hp1 HG03540.hp2 NA19074.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0005 | a0001c0001t0001g0197 a0001c0001t0003g0182 a0001c0007t0005g0077 |
3 | 65 | 0.0462 | 5 | c.380 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716110 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00738.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0002g0070 others(16): Show |
19 | 96 | 0.1979 | 5 | c.133 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716319 | A | ATATAT | intron_variant | MODIFIER | HG02738.hp1 HG03831.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0028 a0002c0002t0002g0209 |
2 | 202 | 0.0099 | 5 | c.133 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716321 | A | ATATAT | intron_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01257.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0022 a0002c0002t0001g0040 a0002c0002t0001g0049 others(6): Show |
9 | 157 | 0.0573 | 5 | c.133 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716323 | A | ATATAT | intron_variant | MODIFIER | HG01192.hp1 HG02257.hp1 HG02723.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0084 a0001c0001t0003g0085 a0002c0002t0001g0053 others(3): Show |
6 | 91 | 0.0659 | 5 | c.133 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528877 | A | ATTTTT | intron_variant | MODIFIER | HG01943.hp2 HG02896.hp1 NA18963.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0079 others(1): Show |
5 | 236 | 0.0212 | 5 | c.394 others(24): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142531234 | G | GTTTTA | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01109.hp1 others(7): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0230 a0002c0002t0001g0251 a0002c0002t0001g0275 others(7): Show |
10 | 279 | 0.0358 | 5 | c.394 others(24): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45707650 | G | GATATA | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 others(3): Show |
6 | 313 | 0.0192 | 5 | c.647 others(22): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45721919 | A | AAAAAC | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp2 NA18978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0121 others(1): Show |
4 | 300 | 0.0133 | 5 | c.728 others(22): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45795354 | G | GATTCT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0035 others(33): Show |
36 | 156 | 0.2308 | 5 | c.117 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45795415 | A | ATTGTT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0103 |
3 | 288 | 0.0104 | 5 | c.117 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45819192 | A | AAATAG | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01943.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 others(33): Show |
36 | 79 | 0.4557 | 5 | c.123 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1L_chr16_71840976_71862328 | 71849215 | T | TAAAAA | intron_variant | MODIFIER | HG01515.hp1 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0018 | 3 | 345 | 0.0087 | 5 | c.-11 others(22): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16300213 | G | GTCCTT | 3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG01070.hp1 HG01257.hp1 others(9): Show |
a0001a0003a0004others(1): Show | a0001c0041a0003c0002a0003c0009others(2): Show | a0001c0041t0036a0003c0002t0008a0003c0002t0041others(4): Show | a0001c0041t0036g0095 a0003c0002t0008g0063 a0003c0002t0008g0081 others(9): Show |
12 | 180 | 0.0667 | 5 | c.*61 others(16): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 8/8 | 6115 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16301085 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01109.hp1 others(9): Show |
a0001a0003 | a0001c0010a0001c0034a0003c0015others(2): Show | a0001c0010t0004a0001c0010t0023a0001c0034t0004others(4): Show | a0001c0010t0004g0050 a0001c0010t0004g0069 a0001c0010t0004g0086 others(9): Show |
12 | 73 | 0.1644 | 5 | c.*52 others(16): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 8/8 | 5243 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16350607 | C | CTCTTT | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0008a0001c0033a0002c0004others(4): Show | a0001c0008t0001a0001c0008t0012a0001c0008t0047others(11): Show | a0001c0008t0001g0009 a0001c0008t0012g0148 a0001c0008t0047g0060 others(19): Show |
22 | 180 | 0.1222 | 5 | c.-16 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar |