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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A3_chr2_227159624_227319792 | 227203074 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(101): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0004a0002c0027others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0100others(101): Show | 104 | 344 | 0.3023 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203075 | A | ATATATAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02809.hp1 HG03540.hp2 |
a0002a0003a0005 | a0002c0007a0003c0011a0005c0005 | a0002c0007t0001a0003c0011t0010a0005c0005t0002 | a0002c0007t0001g0311a0003c0011t0010g0341a0005c0005t0002g0204 | 3 | 344 | 0.0087 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203084 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01106.hp2 others(43): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0047a0002c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0020a0001c0001t0001g0024a0001c0001t0001g0025others(43): Show | 46 | 344 | 0.1337 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203112 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(70): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0004a0003c0002others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0018a0001c0001t0001g0120a0001c0001t0001g0121others(70): Show | 73 | 344 | 0.2122 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203140 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01074.hp1 others(21): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0047a0002c0004others(9): Show | a0001c0001t0001a0001c0001t0007a0001c0047t0002others(12): Show | a0001c0001t0001g0020a0001c0001t0001g0024a0001c0001t0001g0025others(21): Show | 24 | 344 | 0.0698 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203168 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(117): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0047a0002c0004others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(41): Show | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0024others(117): Show | 120 | 344 | 0.3488 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203178 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03453.hp1 HG04204.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0042a0002c0027others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0042t0015others(5): Show | a0001c0001t0001g0319a0001c0001t0002g0084a0001c0042t0015g0331others(6): Show | 9 | 344 | 0.0262 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203180 | T | TATATACC others(1): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19070.hp1 NA20300.hp1 |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0002 | a0001c0001t0002a0002c0004t0025a0003c0002t0001 | a0001c0001t0002g0300a0002c0004t0025g0059a0003c0002t0001g0299 | 3 | 344 | 0.0087 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203207 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02965.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0002c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0004t0003others(5): Show | a0001c0001t0001g0214a0001c0001t0002g0084a0001c0001t0002g0300others(7): Show | 10 | 344 | 0.0291 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203375 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18950.hp2 NA18963.hp1 others(14): Show |
a0001a0004a0007others(2): Show | a0001c0001a0001c0047a0004c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0047t0002others(6): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0231others(14): Show | 17 | 344 | 0.0494 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203407 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG01167.hp2 others(16): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0004a0003c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0004t0003others(6): Show | a0001c0001t0001g0119a0001c0001t0001g0131a0001c0001t0001g0184others(16): Show | 19 | 344 | 0.0552 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203421 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02698.hp1 HG02818.hp1 others(6): Show |
a0002a0006a0030 | a0002c0004a0002c0007a0006c0010others(2): Show | a0002c0004t0006a0002c0007t0001a0002c0007t0010others(4): Show | a0002c0004t0006g0234a0002c0007t0001g0060a0002c0007t0001g0068others(6): Show | 9 | 344 | 0.0262 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203483 | A | ACATATAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(108): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0042a0002c0004others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0034others(108): Show | 111 | 344 | 0.3227 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203513 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01109.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0004a0002c0007others(4): Show | a0001c0001t0002a0002c0004t0001a0002c0004t0008others(7): Show | a0001c0001t0002g0266a0002c0004t0001g0168a0002c0004t0008g0094others(14): Show | 17 | 344 | 0.0494 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203543 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02630.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0011 | a0001c0001t0002a0002c0004t0001a0003c0011t0001others(1): Show | a0001c0001t0002g0266a0002c0004t0001g0168a0003c0011t0001g0090others(2): Show | 5 | 344 | 0.0145 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227208765 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01261.hp1 HG01884.hp1 others(9): Show |
a0002a0006a0008others(3): Show | a0002c0004a0002c0007a0006c0010others(4): Show | a0002c0004t0003a0002c0004t0008a0002c0007t0001others(6): Show | a0002c0004t0003g0091a0002c0004t0003g0334a0002c0004t0008g0094others(9): Show | 12 | 344 | 0.0349 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227274238 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0027 | a0001c0001t0002a0002c0004t0003a0002c0027t0003 | a0001c0001t0002g0266a0002c0004t0003g0091a0002c0004t0003g0334others(1): Show | 4 | 344 | 0.0116 | 8 | c.192 others(27): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 26/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227285277 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01516.hp1 HG03831.hp1 others(3): Show |
a0001a0005a0010others(1): Show | a0001c0001a0005c0005a0010c0018others(1): Show | a0001c0001t0002a0005c0005t0007a0010c0018t0002others(1): Show | a0001c0001t0002g0163a0001c0001t0002g0252a0001c0001t0002g0318others(3): Show | 6 | 344 | 0.0174 | 8 | c.288 others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 34/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227020872 | A | ACTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01167.hp1 HG01934.hp2 others(5): Show |
a0002a0004a0008others(1): Show | a0002c0002a0004c0051a0008c0008others(1): Show | a0002c0002t0002a0004c0051t0005a0008c0008t0004others(1): Show | a0002c0002t0002g0013a0002c0002t0002g0043a0002c0002t0002g0080others(5): Show | 8 | 284 | 0.0282 | 8 | c.421 others(27): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 44/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227030916 | A | AGATGGAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(30): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0049a0001c0072others(10): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0021others(13): Show | a0001c0001t0001g0065a0001c0001t0001g0087a0001c0001t0001g0091others(30): Show | 33 | 284 | 0.1162 | 8 | c.381 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 40/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227031041 | A | AGATGGAT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03225.hp1 NA19002.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0229a0001c0001t0001g0273a0003c0003t0003g0269 | 3 | 284 | 0.0106 | 8 | c.381 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 40/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041720 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01433.hp1 others(6): Show |
a0001a0003a0012others(1): Show | a0001c0001a0003c0003a0012c0011others(1): Show | a0001c0001t0001a0003c0003t0003a0012c0011t0003others(1): Show | a0001c0001t0001g0105a0001c0001t0001g0115a0001c0001t0001g0227others(6): Show | 9 | 284 | 0.0317 | 8 | c.350 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041836 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02897.hp2 NA19030.hp1 |
a0002a0006 | a0002c0002a0002c0058a0006c0035 | a0002c0002t0004a0002c0058t0005a0006c0035t0036 | a0002c0002t0004g0149a0002c0058t0005g0214a0006c0035t0036g0270 | 3 | 284 | 0.0106 | 8 | c.350 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041848 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02886.hp1 others(2): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0010a0006c0005others(2): Show | a0001c0001t0001a0001c0010t0005a0006c0005t0004others(2): Show | a0001c0001t0001g0040a0001c0010t0005g0275a0006c0005t0004g0195others(2): Show | 5 | 284 | 0.0176 | 8 | c.350 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227047731 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01167.hp1 others(34): Show |
a0002a0003a0011others(5): Show | a0002c0002a0002c0060a0003c0003others(12): Show | a0002c0002t0002a0002c0060t0002a0003c0003t0003others(14): Show | a0002c0002t0002g0036a0002c0002t0002g0043a0002c0002t0002g0110others(34): Show | 37 | 284 | 0.1303 | 8 | c.321 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 34/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227060101 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(30): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(12): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0026others(15): Show | a0001c0001t0001g0108a0001c0001t0001g0194a0002c0002t0002g0086others(30): Show | 33 | 284 | 0.1162 | 8 | c.216 others(23): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 27/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227070875 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(40): Show |
a0002a0003a0006others(8): Show | a0002c0002a0003c0003a0003c0014others(12): Show | a0002c0002t0004a0003c0003t0003a0003c0003t0030others(14): Show | a0002c0002t0004g0149a0003c0003t0003g0004a0003c0003t0003g0005others(40): Show | 43 | 284 | 0.1514 | 8 | c.198 others(27): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 25/47 | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108467045 | T | TTGAATTT others(1): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0109 | 1 | 269 | 0.0037 | 8 | c.81+ others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | 269 | 0.0297 | 8 | c.81+ others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATTTTT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG04228.hp1 |
a0002a0005a0011 | a0002c0004a0005c0007a0011c0010 | a0002c0004t0001a0005c0007t0001a0011c0010t0001 | a0002c0004t0001g0263a0005c0007t0001g0262a0011c0010t0001g0261 | 3 | 269 | 0.0112 | 8 | c.81+ others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0042 | 1 | 269 | 0.0037 | 8 | c.81+ others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526595 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18959.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0014 | a0001c0001t0001g0156a0003c0005t0014g0110 | 2 | 269 | 0.0074 | 8 | c.82- others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526671 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18940.hp1 NA19066.hp1 |
a0001a0010 | a0001c0001a0010c0016 | a0001c0001t0001a0010c0016t0001 | a0001c0001t0001g0142a0001c0001t0001g0264a0010c0016t0001g0175 | 3 | 269 | 0.0112 | 8 | c.82- others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A6_chrX_108150614_108443422 | 108197772 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 234 | 0.0043 | 8 | c.835 others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 13/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108231077 | C | CTACATAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01978.hp2 HG03098.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0002a0001c0005t0003a0002c0002t0001others(3): Show | a0001c0001t0002g0048a0001c0005t0003g0037a0001c0005t0003g0042others(6): Show | 9 | 234 | 0.0385 | 8 | c.145 others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108238034 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0232 | 1 | 234 | 0.0043 | 8 | c.145 others(27): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108289242 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02080.hp2 HG03195.hp1 NA18966.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0024 | a0001c0001t0001a0002c0024t0008 | a0001c0001t0001g0049a0001c0001t0001g0100a0001c0001t0001g0101others(1): Show | 4 | 234 | 0.0171 | 8 | c.144 others(27): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108300366 | C | CTCTCTGT others(1): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18951.hp1 NA21309.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003 | a0002c0003t0001g0024a0002c0003t0001g0025a0002c0003t0003g0031 | 3 | 234 | 0.0128 | 8 | c.144 others(27): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108300724 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02647.hp1 HG03225.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0141a0005c0008t0001g0060a0005c0008t0001g0061 | 3 | 234 | 0.0128 | 8 | c.144 others(27): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108305746 | G | GCATGACT others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0160a0002c0002t0003g0174 | 2 | 234 | 0.0086 | 8 | c.144 others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108309801 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03471.hp1 |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0005 | a0003c0004t0004g0054a0003c0004t0005g0055 | 2 | 234 | 0.0086 | 8 | c.144 others(23): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108343165 | A | ATATAGTG others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02965.hp1 HG03225.hp1 |
a0003a0005 | a0003c0004a0005c0008 | a0003c0004t0004a0005c0008t0001 | a0003c0004t0004g0062a0005c0008t0001g0060a0005c0008t0001g0061 | 3 | 234 | 0.0128 | 8 | c.64- others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108351440 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01981.hp1 others(4): Show |
a0001a0012 | a0001c0001a0012c0023 | a0001c0001t0001a0012c0023t0001 | a0001c0001t0001g0076a0001c0001t0001g0079a0001c0001t0001g0080others(4): Show | 7 | 234 | 0.0299 | 8 | c.64- others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108377941 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0010 | 1 | 234 | 0.0043 | 8 | c.63+ others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108403233 | G | GCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01123.hp2 others(7): Show |
a0001a0012 | a0001c0001a0012c0023 | a0001c0001t0001a0012c0023t0001 | a0001c0001t0001g0076a0001c0001t0001g0078a0001c0001t0001g0079others(7): Show | 10 | 234 | 0.0427 | 8 | c.63+ others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134668954 | C | CCCATCCA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(70): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(54): Show | a0001c0001t0001g0212a0001c0001t0002g0243a0001c0001t0006g0110others(69): Show | 73 | 272 | 0.2684 | 8 | c.110 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134727070 | T | TGGATGGA others(1): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18522.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0028a0001c0003t0044 | a0001c0001t0007g0248a0001c0003t0028g0135a0001c0003t0044g0186 | 3 | 272 | 0.0110 | 8 | c.655 others(23): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134759734 | A | ACACACAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0003a0001c0005t0006a0001c0005t0014others(1): Show | a0001c0005t0003g0265a0001c0005t0006g0040a0001c0005t0014g0258others(1): Show | 4 | 272 | 0.0147 | 8 | c.193 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134760363 | A | ACACACAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0003a0001c0005t0006a0001c0005t0014others(1): Show | a0001c0005t0003g0265a0001c0005t0006g0040a0001c0005t0014g0258others(1): Show | 4 | 272 | 0.0147 | 8 | c.193 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134760385 | C | CACATGCA others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0003a0001c0005t0006a0001c0005t0014others(1): Show | a0001c0005t0003g0265a0001c0005t0006g0040a0001c0005t0014g0258others(1): Show | 4 | 272 | 0.0147 | 8 | c.193 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |