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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 308 | 0.0033 | 20 | c.243 others(37): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32947432 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02818.hp1 HG03486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0001 | a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 others(7): Show |
10 | 424 | 0.0236 | 20 | c.-1+ others(37): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 1/15 | chr10 | TogoVar | |||||||
ITGB3BP_chr1_63435770_63528225 | 63472443 | T | TCCCTCTC others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 HG04199.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0241 a0001c0001t0001g0269 others(1): Show |
4 | 374 | 0.0107 | 20 | c.254 others(37): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
ITGB3_chr17_47248827_47318743 | 47290448 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01074.hp1 others(15): Show |
a0001a0002a0009 | a0001c0002a0002c0004a0009c0010 | a0001c0002t0003a0002c0004t0001a0002c0004t0002others(3): Show | a0001c0002t0003g0140 a0002c0004t0001g0211 a0002c0004t0002g0003 others(12): Show |
18 | 370 | 0.0487 | 20 | c.112 others(37): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB3_chr17_47248827_47318743 | 47290448 | A | AGAGGGAA others(13): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0246 | 1 | 370 | 0.0027 | 20 | c.112 others(37): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB3_chr17_47248827_47318743 | 47290470 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0203 | 1 | 370 | 0.0027 | 20 | c.112 others(37): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB4_chr17_75716459_75762818 | 75730573 | T | TCTCCCTC others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03130.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0004a0002c0001t0004 | a0001c0002t0004g0025 a0002c0001t0004g0024 |
2 | 382 | 0.0052 | 20 | c.100 others(35): Show |
ITGB4 | ENSG00000132470.14 | transcript | ENST00000200181.8 | protein_coding | 8/39 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124798055 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0144 | 1 | 352 | 0.0028 | 20 | c.126 others(39): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124861495 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0302 | 1 | 352 | 0.0028 | 20 | c.157 others(37): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101604883 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02698.hp1 |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0001a0002c0007t0001 | a0001c0003t0001g0118 a0002c0007t0001g0164 |
2 | 306 | 0.0065 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604885 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18968.hp1 NA19072.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0021 a0001c0001t0001g0089 a0001c0003t0001g0156 |
3 | 306 | 0.0098 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATACACA others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0044 | 1 | 306 | 0.0033 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATACACA others(13): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0298 |
2 | 306 | 0.0065 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATACA others(13): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0033 | 1 | 306 | 0.0033 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATACA others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02572.hp2 HG02647.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0010a0004c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0022 a0001c0001t0002g0031 a0001c0001t0006g0087 others(3): Show |
6 | 306 | 0.0196 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18971.hp2 NA19011.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0027 a0001c0002t0001g0243 a0001c0006t0001g0223 |
3 | 306 | 0.0098 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03834.hp2 NA18966.hp1 NA18977.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0067 a0001c0002t0001g0250 a0001c0002t0001g0264 others(1): Show |
4 | 306 | 0.0131 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0240 | 1 | 306 | 0.0033 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATGTATA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00735.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0126 others(6): Show |
9 | 306 | 0.0294 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101606172 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19030.hp2 |
a0004a0005 | a0004c0018a0005c0014 | a0004c0018t0001a0005c0014t0001 | a0004c0018t0001g0046 a0005c0014t0001g0076 |
2 | 306 | 0.0065 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101689211 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01358.hp2 HG02083.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0020 | a0001c0001t0001a0001c0002t0001a0001c0020t0001 | a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0187 others(5): Show |
8 | 306 | 0.0261 | 20 | c.101 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7722963 | A | AGTGGAGT others(13): Show |
intron_variant | MODIFIER | NA19001.hp2 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0261 a0001c0002t0001g0262 |
2 | 380 | 0.0053 | 20 | c.868 others(35): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7723148 | C | CGTGGCGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(277): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0008others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(272): Show |
280 | 380 | 0.7368 | 20 | c.868 others(35): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7724570 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0024 | a0003c0024t0001 | a0003c0024t0001g0372 | 1 | 380 | 0.0026 | 20 | c.984 others(37): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7748521 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18961.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0064 |
2 | 380 | 0.0053 | 20 | c.269 others(37): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566770 | G | GGAGAAGG others(13): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18949.hp1 NA19080.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0125 a0003c0005t0001g0154 a0003c0005t0001g0337 |
3 | 342 | 0.0088 | 20 | c.215 others(37): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7597044 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02735.hp1 |
a0001a0002 | a0001c0023a0002c0003 | a0001c0023t0001a0002c0003t0001 | a0001c0023t0001g0064 a0002c0003t0001g0123 |
2 | 342 | 0.0059 | 20 | c.940 others(39): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7597063 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02717.hp1 |
a0001a0022 | a0001c0001a0022c0044 | a0001c0001t0001a0022c0044t0005 | a0001c0001t0001g0017 a0022c0044t0005g0082 |
2 | 342 | 0.0059 | 20 | c.940 others(39): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624798 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0000 | a0000c0063 | a0000c0063t0014 | a0000c0063t0014g0263 | 1 | 342 | 0.0029 | 20 | c.653 others(37): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644360 | T | TATATATC others(13): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18993.hp1 |
a0000a0003 | a0000c0066a0003c0002 | a0000c0066t0013a0003c0002t0009 | a0000c0066t0013g0199 a0003c0002t0009g0198 |
2 | 342 | 0.0059 | 20 | c.136 others(37): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644530 | G | GATATATC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(158): Show |
a0000a0001a0002others(16): Show | a0000c0011a0000c0013a0000c0014others(35): Show | a0000c0011t0007a0000c0011t0030a0000c0011t0031others(63): Show | a0000c0011t0007g0084 a0000c0011t0030g0013 a0000c0011t0031g0260 others(157): Show |
161 | 342 | 0.4708 | 20 | c.136 others(37): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644626 | C | CATATATC others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0000 | a0000c0025 | a0000c0025t0004 | a0000c0025t0004g0189 | 1 | 342 | 0.0029 | 20 | c.136 others(37): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH6_chrX_54743918_54803255 | 54796110 | C | CCACTTCA others(13): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 296 | 0.0034 | 20 | c.257 others(35): Show |
ITIH6 | ENSG00000102313.9 | transcript | ENST00000218436.7 | protein_coding | 2/12 | chrX | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233932 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 a0001c0001t0001g0331 |
2 | 348 | 0.0058 | 20 | c.768 others(37): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233963 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18997.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0308 a0001c0001t0015g0062 |
2 | 348 | 0.0058 | 20 | c.768 others(37): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233963 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 | 1 | 348 | 0.0029 | 20 | c.768 others(37): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITLN2_chr1_160940025_160959809 | 160942871 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 HG04184.hp2 NA18960.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0002c0006t0001g0140 |
5 | 480 | 0.0104 | 20 | c.*22 others(31): Show |
ITLN2 | ENSG00000158764.7 | transcript | ENST00000368029.4 | protein_coding | 2153 | chr1 | TogoVar | |||||||
ITPR1_chr3_4488348_4852506 | 4566604 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03195.hp1 |
a0001 | a0001c0004a0001c0104 | a0001c0004t0021a0001c0104t0019 | a0001c0004t0021g0115 a0001c0104t0019g0121 |
2 | 176 | 0.0114 | 20 | c.163 others(39): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4609051 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | NA18991.hp2 NA19012.hp2 |
a0001 | a0001c0006a0001c0019 | a0001c0006t0003a0001c0019t0002 | a0001c0006t0003g0070 a0001c0019t0002g0158 |
2 | 176 | 0.0114 | 20 | c.164 others(39): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4611561 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0021 | a0001c0021t0007 | a0001c0021t0007g0011 | 1 | 176 | 0.0057 | 20 | c.164 others(39): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619592 | C | CCTCCCCT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0024 | 1 | 176 | 0.0057 | 20 | c.164 others(37): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619638 | C | CTCCTCTC others(13): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0103 | 1 | 176 | 0.0057 | 20 | c.164 others(37): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619766 | T | TTCTGCCC others(13): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0103 | 1 | 176 | 0.0057 | 20 | c.164 others(37): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4721172 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01261.hp2 HG02109.hp2 others(6): Show |
a0001a0004a0007 | a0001c0002a0001c0009a0001c0013others(5): Show | a0001c0002t0001a0001c0009t0001a0001c0013t0001others(5): Show | a0001c0002t0001g0028 a0001c0002t0001g0172 a0001c0009t0001g0124 others(6): Show |
9 | 176 | 0.0511 | 20 | c.513 others(39): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4831125 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01258.hp1 others(5): Show |
a0001 | a0001c0011a0001c0014a0001c0028others(5): Show | a0001c0011t0001a0001c0014t0001a0001c0028t0002others(5): Show | a0001c0011t0001g0042 a0001c0014t0001g0133 a0001c0028t0002g0136 others(5): Show |
8 | 176 | 0.0455 | 20 | c.802 others(39): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 60/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4831129 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0026 | a0001c0026t0018 | a0001c0026t0018g0117 | 1 | 176 | 0.0057 | 20 | c.802 others(39): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 60/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4831131 | T | TCTCTCAC others(13): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0019 | a0001c0019t0014 | a0001c0019t0014g0163 | 1 | 176 | 0.0057 | 20 | c.802 others(39): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 60/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26462154 | C | CTTTTGTT others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01981.hp2 HG02040.hp2 others(7): Show |
a0001a0003a0011 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0035a0001c0002t0046a0001c0003t0001others(7): Show | a0001c0001t0035g0053 a0001c0002t0046g0123 a0001c0003t0001g0037 others(7): Show |
10 | 142 | 0.0704 | 20 | c.634 others(41): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 45/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26503190 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01261.hp2 HG02897.hp1 others(3): Show |
a0001a0004 | a0001c0012a0001c0013a0001c0027others(2): Show | a0001c0012t0005a0001c0012t0039a0001c0013t0022others(3): Show | a0001c0012t0005g0023 a0001c0012t0039g0079 a0001c0013t0022g0120 others(3): Show |
6 | 142 | 0.0423 | 20 | c.507 others(39): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516213 | G | GAAGGAAA others(13): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0093 | 1 | 142 | 0.0070 | 20 | c.507 others(41): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar |