| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARID1B_chr6_156772378_157215779 | 156778268 | C | CCAGCAGC others(23): Show |
disruptive_inframe_insertion | MODERATE | NA19030.hp1 | a0028 | a0028c0040 | a0028c0040t0002 | a0028c0040t0002g0050 | 1 | 150 | 0.0067 | 30 | c.611 others(37): Show |
p.Gln others(43): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 1/20 | 915/10310 | 612/7119 | 204/2372 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| ARID1B_chr6_156772378_157215779 | 156778847 | G | GGGC | disruptive_inframe_insertion | MODERATE | HG02559.hp1 HG03471.hp1 HG03540.hp2 others(1): Show |
a0004a0011 | a0004c0009a0004c0029a0011c0030 | a0004c0009t0001a0004c0009t0004a0004c0029t0007others(1): Show | a0004c0009t0001g0094a0004c0009t0004g0076a0004c0029t0007g0095others(1): Show | 4 | 150 | 0.0267 | 3 | c.119 others(12): Show |
p.Gly others(6): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 1/20 | 1497/10310 | 1194/7119 | 398/2372 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| ARID1B_chr6_156772378_157215779 | 156778889 | C | CGGA | disruptive_inframe_insertion | MODERATE | HG03130.hp2 HG03579.hp2 |
a0020a0029 | a0020c0028a0029c0013 | a0020c0028t0001a0029c0013t0009 | a0020c0028t0001g0081a0029c0013t0009g0044 | 2 | 150 | 0.0133 | 3 | c.123 others(12): Show |
p.Gly others(6): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 1/20 | 1538/10310 | 1235/7119 | 412/2372 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| ARID3A_chr19_921035_980939 | 971949 | G | GGCA | disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(230): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0003a0001c0005others(29): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(201): Show | a0001c0001t0003g0016a0001c0001t0003g0122a0001c0001t0003g0143others(230): Show | 233 | 364 | 0.6401 | 3 | c.167 others(12): Show |
p.Ser others(6): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 9/9 | 1971/5948 | 1679/1782 | 560/593 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| ARIH1_chr15_72469330_72607987 | 72474873 | T | TGGC | disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG01074.hp1 HG01978.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0018 | a0002c0002t0001g0128a0002c0002t0002g0126a0002c0002t0002g0129others(2): Show | 5 | 262 | 0.0191 | 3 | c.255 others(10): Show |
p.Gly others(5): Show |
ARIH1 | ENSG00000166233.15 | transcript | ENST00000379887.9 | protein_coding | 1/14 | 568/21679 | 258/1674 | 86/557 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101490931 | G | GGATGGGT others(14): Show |
disruptive_inframe_insertion | MODERATE | NA19006.hp1 | a0041 | a0041c0042 | a0041c0042t0002 | a0041c0042t0002g0028 | 1 | 326 | 0.0031 | 21 | c.234 others(30): Show |
p.Val others(34): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 2875/7729 | 2364/6873 | 788/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(407): Show |
disruptive_inframe_insertion | MODERATE | NA19064.hp2 | a0053 | a0053c0036 | a0053c0036t0002 | a0053c0036t0002g0001 | 1 | 326 | 0.0031 | 414 | c.546 others(423): Show |
p.Gly others(429): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(410): Show |
disruptive_inframe_insertion | MODERATE | NA18976.hp1 | a0055 | a0055c0032 | a0055c0032t0002 | a0055c0032t0002g0035 | 1 | 326 | 0.0031 | 417 | c.546 others(426): Show |
p.Gly others(432): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(341): Show |
disruptive_inframe_insertion | MODERATE | HG02027.hp1 | a0049 | a0049c0039 | a0049c0039t0002 | a0049c0039t0002g0037 | 1 | 326 | 0.0031 | 348 | c.546 others(357): Show |
p.Gly others(363): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(407): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(94): Show |
a0002a0008a0040others(12): Show | a0002c0002a0008c0006a0040c0043others(12): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0008others(16): Show | a0002c0002t0002g0001a0002c0002t0002g0007a0002c0002t0002g0016others(19): Show | 97 | 326 | 0.2976 | 414 | c.546 others(423): Show |
p.Gly others(429): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(407): Show |
disruptive_inframe_insertion | MODERATE | NA18988.hp1 | a0052 | a0052c0040 | a0052c0040t0002 | a0052c0040t0002g0001 | 1 | 326 | 0.0031 | 414 | c.546 others(423): Show |
p.Gly others(429): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(407): Show |
disruptive_inframe_insertion | MODERATE | HG02074.hp1 NA18964.hp1 NA18997.hp1 |
a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0001a0012c0012t0002g0007a0012c0012t0002g0016 | 3 | 326 | 0.0092 | 414 | c.546 others(423): Show |
p.Gly others(429): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(413): Show |
disruptive_inframe_insertion | MODERATE | HG00438.hp2 HG01346.hp1 HG01884.hp1 others(17): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004a0003c0003t0001g0010a0003c0003t0001g0011others(4): Show | 20 | 326 | 0.0614 | 420 | c.546 others(429): Show |
p.Gly others(435): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(389): Show |
disruptive_inframe_insertion | MODERATE | HG02257.hp2 HG02280.hp1 HG03098.hp1 |
a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0010 | 3 | 326 | 0.0092 | 396 | c.546 others(405): Show |
p.Gly others(411): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(389): Show |
disruptive_inframe_insertion | MODERATE | HG00609.hp1 HG01109.hp1 HG01243.hp1 others(32): Show |
a0004a0006a0007others(5): Show | a0004c0005a0004c0011a0004c0064others(7): Show | a0004c0005t0001a0004c0005t0004a0004c0011t0004others(8): Show | a0004c0005t0001g0015a0004c0005t0004g0005a0004c0005t0004g0031others(12): Show | 35 | 326 | 0.1074 | 396 | c.546 others(405): Show |
p.Gly others(411): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(407): Show |
disruptive_inframe_insertion | MODERATE | NA19082.hp1 NA19091.hp1 |
a0018 | a0018c0016 | a0018c0016t0002 | a0018c0016t0002g0001 | 2 | 326 | 0.0061 | 414 | c.546 others(423): Show |
p.Gly others(429): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(425): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp1 | a0034 | a0034c0048 | a0034c0048t0001 | a0034c0048t0001g0029 | 1 | 326 | 0.0031 | 432 | c.546 others(441): Show |
p.Gly others(447): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(389): Show |
disruptive_inframe_insertion | MODERATE | NA18946.hp2 | a0048 | a0048c0041 | a0048c0041t0002 | a0048c0041t0002g0001 | 1 | 326 | 0.0031 | 396 | c.546 others(405): Show |
p.Gly others(411): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(407): Show |
disruptive_inframe_insertion | MODERATE | HG02723.hp2 HG02965.hp1 HG03471.hp1 others(2): Show |
a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0001 | 5 | 326 | 0.0153 | 414 | c.546 others(423): Show |
p.Gly others(429): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(389): Show |
disruptive_inframe_insertion | MODERATE | HG01891.hp1 HG02109.hp2 HG02257.hp1 others(8): Show |
a0005a0020a0057 | a0005c0004a0020c0014a0057c0026 | a0005c0004t0001a0020c0014t0001a0057c0026t0001 | a0005c0004t0001g0001a0005c0004t0001g0007a0020c0014t0001g0001others(1): Show | 11 | 326 | 0.0337 | 396 | c.546 others(405): Show |
p.Gly others(411): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(413): Show |
disruptive_inframe_insertion | MODERATE | HG01943.hp1 | a0028 | a0028c0056 | a0028c0056t0001 | a0028c0056t0001g0002 | 1 | 326 | 0.0031 | 420 | c.546 others(429): Show |
p.Gly others(435): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(419): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(128): Show |
a0001a0009a0016others(9): Show | a0001c0001a0001c0045a0001c0058others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0045t0001others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0012others(21): Show | 131 | 326 | 0.4018 | 426 | c.546 others(435): Show |
p.Gly others(441): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(419): Show |
disruptive_inframe_insertion | MODERATE | HG02818.hp1 | a0027 | a0027c0060 | a0027c0060t0001 | a0027c0060t0001g0002 | 1 | 326 | 0.0031 | 426 | c.546 others(435): Show |
p.Gly others(441): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(401): Show |
disruptive_inframe_insertion | MODERATE | HG00738.hp1 HG03516.hp2 |
a0013 | a0013c0021 | a0013c0021t0001 | a0013c0021t0001g0002a0013c0021t0001g0030 | 2 | 326 | 0.0061 | 408 | c.546 others(417): Show |
p.Gly others(423): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(431): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 | a0029 | a0029c0062 | a0029c0062t0001 | a0029c0062t0001g0002 | 1 | 326 | 0.0031 | 438 | c.546 others(447): Show |
p.Gly others(453): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494047 | G | GGGGTTGG others(389): Show |
disruptive_inframe_insertion | MODERATE | HG02922.hp2 | a0058 | a0058c0025 | a0058c0025t0001 | a0058c0025t0001g0026 | 1 | 326 | 0.0031 | 396 | c.546 others(405): Show |
p.Gly others(411): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494096 | G | GGGCTGGG others(407): Show |
disruptive_inframe_insertion | MODERATE | HG02559.hp1 | a0035 | a0035c0049 | a0035c0049t0001 | a0035c0049t0001g0004 | 1 | 326 | 0.0031 | 414 | c.552 others(423): Show |
p.Ala others(429): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6036/7729 | 5525/6873 | 1842/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67545316 | T | TGCA | disruptive_inframe_insertion | MODERATE | HG00741.hp2 HG01169.hp1 HG01515.hp1 others(15): Show |
a0004a0015a0058others(2): Show | a0004c0003a0015c0010a0058c0069others(2): Show | a0004c0003t0001a0004c0003t0002a0004c0003t0008others(9): Show | a0004c0003t0001g0036a0004c0003t0001g0097a0004c0003t0001g0109others(15): Show | 18 | 193 | 0.0933 | 3 | c.237 others(10): Show |
p.Gln others(5): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCA | disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00621.hp1 HG00735.hp1 others(16): Show |
a0003a0030a0061others(5): Show | a0003c0004a0003c0077a0030c0030others(6): Show | a0003c0004t0001a0003c0004t0003a0003c0004t0008others(13): Show | a0003c0004t0001g0054a0003c0004t0001g0056a0003c0004t0001g0076others(16): Show | 19 | 193 | 0.0985 | 6 | c.234 others(13): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCAG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00609.hp1 HG00673.hp1 HG01069.hp1 others(18): Show |
a0002a0010a0031others(1): Show | a0002c0002a0010c0014a0010c0078others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0028a0002c0002t0001g0057a0002c0002t0001g0092others(18): Show | 21 | 193 | 0.1088 | 9 | c.231 others(16): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCAG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG01261.hp1 HG02027.hp1 NA18974.hp1 others(2): Show |
a0019a0032 | a0019c0018a0032c0031 | a0019c0018t0001a0019c0018t0062a0032c0031t0009others(1): Show | a0019c0018t0001g0017a0019c0018t0001g0031a0019c0018t0062g0106others(2): Show | 5 | 193 | 0.0259 | 12 | c.228 others(19): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCAG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG01934.hp1 HG02723.hp2 HG02738.hp1 others(3): Show |
a0020a0033a0068 | a0020c0019a0033c0032a0068c0083 | a0020c0019t0001a0020c0019t0003a0020c0019t0017others(2): Show | a0020c0019t0001g0098a0020c0019t0003g0066a0020c0019t0017g0077others(3): Show | 6 | 193 | 0.0311 | 15 | c.225 others(22): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCAG others(11): Show |
disruptive_inframe_insertion | MODERATE | NA18995.hp1 | a0069 | a0069c0084 | a0069c0084t0022 | a0069c0084t0022g0065 | 1 | 193 | 0.0052 | 18 | c.222 others(25): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCAG others(14): Show |
disruptive_inframe_insertion | MODERATE | NA19060.hp1 | a0070 | a0070c0085 | a0070c0085t0056 | a0070c0085t0056g0082 | 1 | 193 | 0.0052 | 21 | c.219 others(28): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67546514 | T | TGGC | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00642.hp1 HG00738.hp1 others(30): Show |
a0008a0011a0012others(7): Show | a0008c0005a0011c0008a0012c0011others(10): Show | a0008c0005t0003a0008c0005t0006a0008c0005t0010others(24): Show | a0008c0005t0003g0003a0008c0005t0006g0118a0008c0005t0010g0003others(30): Show | 33 | 193 | 0.1710 | 3 | c.141 others(12): Show |
p.Gly others(6): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2547/10667 | 1421/2763 | 474/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67546514 | T | TGGCGGC | disruptive_inframe_insertion | MODERATE | HG01106.hp1 HG01891.hp1 HG02257.hp2 others(7): Show |
a0016a0022a0039others(4): Show | a0016c0024a0016c0058a0022c0021others(5): Show | a0016c0024t0010a0016c0024t0011a0016c0058t0012others(7): Show | a0016c0024t0010g0115a0016c0024t0011g0004a0016c0058t0012g0107others(7): Show | 10 | 193 | 0.0518 | 6 | c.141 others(15): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2547/10667 | 1421/2763 | 474/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67546514 | T | TGGCGGCG others(2): Show |
disruptive_inframe_insertion | MODERATE | NA18612.hp1 | a0066 | a0066c0076 | a0066c0076t0003 | a0066c0076t0003g0040 | 1 | 193 | 0.0052 | 9 | c.141 others(18): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2547/10667 | 1421/2763 | 474/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67546514 | T | TGGCGGCG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG01081.hp2 HG02055.hp1 HG02257.hp1 |
a0044a0048a0056 | a0044c0044a0048c0053a0056c0061 | a0044c0044t0007a0048c0053t0007a0056c0061t0010 | a0044c0044t0007g0172a0048c0053t0007g0171a0056c0061t0010g0161 | 3 | 193 | 0.0155 | 12 | c.140 others(21): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2547/10667 | 1421/2763 | 474/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67546514 | T | TGGCGGCG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG01167.hp1 HG01169.hp2 |
a0021 | a0021c0020 | a0021c0020t0011 | a0021c0020t0011g0111a0021c0020t0011g0130 | 2 | 193 | 0.0104 | 18 | c.140 others(27): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2547/10667 | 1421/2763 | 474/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ASB18_chr2_236188459_236269406 | 236237820 | G | GGCGCCGC others(26): Show |
disruptive_inframe_insertion | MODERATE | NA19085.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0168 | 1 | 250 | 0.0040 | 33 | c.432 others(40): Show |
p.Ala others(46): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/6 | 525/2875 | 464/1401 | 155/466 | chr2 | TogoVar | ||
| ASPHD1_chr16_29895488_29911056 | 29901481 | G | GGGT | disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(56): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(16): Show | 59 | 394 | 0.1498 | 3 | c.513 others(10): Show |
p.Gly others(6): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/3 | 1000/1816 | 516/1173 | 172/390 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| ASTN2_chr9_116418112_117420057 | 117414630 | C | CGCG | disruptive_inframe_insertion | MODERATE | HG03041.hp1 HG03471.hp2 NA20300.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002a0002c0004t0005others(1): Show | a0002c0004t0001g0004a0002c0004t0002g0005a0002c0004t0005g0006others(1): Show | 4 | 102 | 0.0392 | 3 | c.306 others(10): Show |
p.Ala others(6): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/23 | 427/6878 | 308/4020 | 103/1339 | chr9 | TogoVar | ||
| ATAD2_chr8_123314850_123401447 | 123369918 | T | TTCA | disruptive_inframe_insertion | MODERATE | HG01243.hp2 HG01891.hp1 HG02486.hp1 others(12): Show |
a0003 | a0003c0002a0003c0011a0003c0024others(1): Show | a0003c0002t0001a0003c0002t0003a0003c0002t0006others(5): Show | a0003c0002t0001g0113a0003c0002t0001g0114a0003c0002t0001g0115others(12): Show | 15 | 278 | 0.0540 | 3 | c.831 others(10): Show |
p.Asp others(6): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 7/28 | 923/5547 | 833/4173 | 278/1390 | chr8 | TogoVar | ||
| ATAD2_chr8_123314850_123401447 | 123369918 | T | TTCATCA | disruptive_inframe_insertion | MODERATE | HG02071.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
a0002 | a0002c0004a0002c0008a0002c0026 | a0002c0004t0001a0002c0004t0003a0002c0008t0004others(2): Show | a0002c0004t0001g0127a0002c0004t0001g0130a0002c0004t0001g0131others(10): Show | 13 | 278 | 0.0468 | 6 | c.828 others(13): Show |
p.Asp others(13): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 7/28 | 923/5547 | 833/4173 | 278/1390 | chr8 | TogoVar | ||
| ATAD2_chr8_123314850_123401447 | 123369942 | A | ATCATCG | disruptive_inframe_insertion | MODERATE | HG01243.hp1 HG02486.hp2 HG02647.hp2 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0251a0002c0003t0001g0253a0002c0003t0001g0254others(7): Show | 10 | 278 | 0.0360 | 6 | c.809 others(13): Show |
p.Asp others(13): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 7/28 | 899/5547 | 809/4173 | 270/1390 | chr8 | TogoVar | ||
| ATN1_chr12_6922959_6947321 | 6936728 | A | ACAG | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00544.hp2 HG00642.hp1 others(25): Show |
a0006 | a0006c0009a0006c0010 | a0006c0009t0001a0006c0009t0004a0006c0010t0001 | a0006c0009t0001g0004a0006c0009t0001g0005a0006c0009t0001g0034others(11): Show | 28 | 414 | 0.0676 | 3 | c.150 others(12): Show |
p.Gln others(6): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2097/4702 | 1509/3573 | 503/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| ATN1_chr12_6922959_6947321 | 6936728 | A | ACAGCAG | disruptive_inframe_insertion | MODERATE | HG00423.hp1 HG00597.hp1 HG00609.hp1 others(27): Show |
a0005 | a0005c0004a0005c0039 | a0005c0004t0001a0005c0004t0003a0005c0039t0001 | a0005c0004t0001g0002a0005c0004t0001g0003a0005c0004t0001g0004others(12): Show | 30 | 414 | 0.0725 | 6 | c.150 others(15): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2097/4702 | 1509/3573 | 503/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| ATN1_chr12_6922959_6947321 | 6936728 | A | ACAGCAGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00558.hp1 HG00597.hp2 HG00673.hp1 others(27): Show |
a0007a0018a0020 | a0007c0006a0007c0021a0007c0037others(3): Show | a0007c0006t0001a0007c0006t0003a0007c0021t0001others(4): Show | a0007c0006t0001g0002a0007c0006t0001g0004a0007c0006t0001g0008others(16): Show | 30 | 414 | 0.0725 | 9 | c.150 others(18): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2097/4702 | 1509/3573 | 503/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| ATN1_chr12_6922959_6947321 | 6936728 | A | ACAGCAGC others(5): Show |
disruptive_inframe_insertion | MODERATE | HG00438.hp2 HG00544.hp1 HG02132.hp1 others(7): Show |
a0012a0021 | a0012c0014a0012c0036a0021c0051 | a0012c0014t0001a0012c0036t0001a0021c0051t0001 | a0012c0014t0001g0002a0012c0014t0001g0008a0012c0014t0001g0011others(5): Show | 10 | 414 | 0.0242 | 12 | c.149 others(21): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2097/4702 | 1509/3573 | 503/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| ATN1_chr12_6922959_6947321 | 6936728 | A | ACAGCAGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG01167.hp2 HG03669.hp2 NA18964.hp1 others(2): Show |
a0013 | a0013c0017a0013c0035 | a0013c0017t0001a0013c0035t0001 | a0013c0017t0001g0002a0013c0017t0001g0057a0013c0017t0001g0061others(1): Show | 5 | 414 | 0.0121 | 15 | c.149 others(24): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2097/4702 | 1509/3573 | 503/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |