| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA13_chr7_48166458_48652497 | 48481581 | A | ATAATGAA others(482): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03486.hp1 HG06807.hp1 others(1): Show |
a0007a0069a0074others(1): Show | a0007c0011a0069c0086a0074c0036others(1): Show | a0007c0011t0007a0069c0086t0009a0074c0036t0007others(1): Show | a0007c0011t0007g0165 a0069c0086t0009g0160 a0074c0036t0007g0083 others(1): Show |
4 | 101 | 0.0396 | 489 | c.130 others(508): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 46/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ABCA13_chr7_48166458_48652497 | 48481581 | A | ATAATGAA others(482): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00735.hp2 others(59): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0103a0002c0065others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0103t0006others(47): Show | a0001c0001t0001g0082 a0001c0001t0002g0066 a0001c0103t0006g0059 others(59): Show |
62 | 159 | 0.3899 | 489 | c.130 others(508): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 46/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ABCA13_chr7_48166458_48652497 | 48481581 | A | ATAATGAA others(482): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 HG02895.hp1 others(4): Show |
a0005a0007a0015others(3): Show | a0005c0063a0007c0102a0015c0047others(3): Show | a0005c0063t0001a0007c0102t0001a0015c0047t0001others(4): Show | a0005c0063t0001g0010 a0007c0102t0001g0020 a0015c0047t0001g0155 others(4): Show |
7 | 104 | 0.0673 | 489 | c.130 others(508): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 46/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ABCA13_chr7_48166458_48652497 | 48481581 | A | ATAATGAA others(482): Show |
intron_variant | MODIFIER | NA18986.hp1 NA19011.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 |
3 | 100 | 0.0300 | 489 | c.130 others(508): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 46/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1117885 | A | ACCCTGAG others(482): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0270 a0001c0001t0014g0244 |
2 | 250 | 0.0080 | 489 | c.246 others(506): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
| ACOT11_chr1_54543228_54615329 | 54561736 | A | ACCCCCCA others(482): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0069 a0002c0002t0007g0070 |
2 | 343 | 0.0058 | 489 | c.33+ others(506): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(482): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 57 | 0.0175 | 489 | c.409 others(508): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
| AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(482): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 183 | 0.0055 | 489 | c.125 others(510): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
| AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(482): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 183 | 0.0055 | 489 | c.125 others(510): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
| AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(482): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0161 | 1 | 183 | 0.0055 | 489 | c.125 others(510): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 2 | 0.5000 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 2 | 0.5000 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0109 |
2 | 3 | 0.6667 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 2 | 0.5000 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 2 | 0.5000 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 2 | 0.5000 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03831.hp2 NA19055.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(1): Show |
4 | 5 | 0.8000 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03831.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0001t0001g0129 |
3 | 4 | 0.7500 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 2 | 0.5000 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 2 | 0.5000 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 2 | 0.5000 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(482): Show |
intron_variant | MODIFIER | HG02155.hp2 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0108 |
2 | 3 | 0.6667 | 489 | c.-14 others(504): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(482): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 | 1 | 223 | 0.0045 | 489 | c.*36 others(500): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
| AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(482): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 267 | 0.0037 | 489 | c.*36 others(500): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | |||||||
| B4GALNT4_chr11_364499_387117 | 375020 | G | GAGGGAGG others(482): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 83 | 0.0120 | 489 | c.784 others(504): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| B4GALNT4_chr11_364499_387117 | 375125 | A | AAGGGAGG others(482): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0146 | 1 | 150 | 0.0067 | 489 | c.784 others(504): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 404446 | G | GGGGGACG others(482): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 1 | 289 | 0.0035 | 489 | c.*26 others(500): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 998 | chr19 | TogoVar | |||||||
| C8orf82_chr8_144520733_144534111 | 144531192 | G | GAGCAGCA others(482): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 375 | 0.0027 | 489 | c.-22 others(500): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2082 | chr8 | TogoVar | |||||||
| CACNA1B_chr9_137872782_138129619 | 138126945 | G | GCCCCCGG others(482): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02615.hp2 |
a0001a0004 | a0001c0002a0004c0053 | a0001c0002t0013a0004c0053t0022 | a0001c0002t0013g0012 a0004c0053t0022g0010 |
2 | 137 | 0.0146 | 489 | c.*49 others(500): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2327 | chr9 | TogoVar | |||||||
| CACNA1C_chr12_2047987_2702950 | 2539260 | T | TAAAGATG others(482): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0081 | 1 | 104 | 0.0096 | 489 | c.139 others(510): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181925 | C | CTCACATA others(482): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 322 | 0.0031 | 489 | c.193 others(506): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(482): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 316 | 0.0032 | 489 | c.193 others(506): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(482): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 12 | 0.0833 | 489 | c.-45 others(510): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CHIC1_chrX_73558197_73692111 | 73672091 | C | CATGAACT others(482): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0136 |
2 | 206 | 0.0097 | 489 | c.508 others(506): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(482): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0137 | 1 | 4 | 0.2500 | 489 | c.267 others(506): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(482): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0027 | 1 | 4 | 0.2500 | 489 | c.267 others(506): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240924930 | C | CCCCCCAC others(482): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02965.hp2 |
a0015a0020 | a0015c0015a0020c0029 | a0015c0015t0001a0020c0029t0001 | a0015c0015t0001g0180 a0020c0029t0001g0032 |
2 | 318 | 0.0063 | 489 | c.489 others(504): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240924930 | C | CCCCCCAC others(482): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0020 | a0020c0028 | a0020c0028t0001 | a0020c0028t0001g0048 | 1 | 317 | 0.0032 | 489 | c.489 others(504): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(482): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 279 | 0.0036 | 489 | c.-42 others(500): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(482): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0121 | 1 | 279 | 0.0036 | 489 | c.-42 others(500): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(482): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0160 | 1 | 279 | 0.0036 | 489 | c.-42 others(500): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1450088 | G | GCTGTGAG others(482): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 15 | 0.0667 | 489 | c.107 others(508): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
| EBF2_chr8_25836725_26050413 | 26005387 | A | ATATATTA others(482): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 92 | 0.0109 | 489 | c.551 others(508): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
| EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(482): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0187 | 1 | 230 | 0.0043 | 489 | c.190 others(508): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99928191 | G | GTGGTGGT others(482): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0122 | 1 | 241 | 0.0041 | 489 | c.190 others(508): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137350195 | T | TAGATAGA others(482): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0024 | a0024c0036 | a0024c0036t0001 | a0024c0036t0001g0003 | 1 | 76 | 0.0132 | 489 | c.149 others(506): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 14/21 | chr9 | TogoVar | |||||||
| FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAA others(482): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 248 | 0.0040 | 489 | c.157 others(504): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586254 | C | CCGGGGGG others(482): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 242 | 0.0041 | 489 | c.157 others(504): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| GPIHBP1_chr8_143208218_143222170 | 143218244 | C | CAACACCA others(482): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 NA19088.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0002 | 2 | 32 | 0.0625 | 489 | c.*27 others(500): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1075 | chr8 | TogoVar | |||||||
| GTF2H5_chr6_158163350_158204344 | 158169681 | A | ATATTGTA others(482): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0187 | 1 | 339 | 0.0029 | 489 | c.-34 others(504): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |