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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EYA4_chr6_133236357_133537128 | 133299955 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02615.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0020a0001c0001t0028others(3): Show | a0001c0001t0004g0133a0001c0001t0004g0134a0001c0001t0020g0089others(4): Show | 7 | 264 | 0.0265 | 8 | c.33+ others(25): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133323073 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01891.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0251a0001c0001t0001g0253a0001c0001t0001g0258others(11): Show | 14 | 264 | 0.0530 | 8 | c.33+ others(25): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133342574 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01433.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0001 | a0001c0001t0002g0161a0001c0001t0002g0172a0001c0001t0002g0175others(3): Show | 6 | 264 | 0.0227 | 8 | c.34- others(25): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133378926 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03041.hp2 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0035a0002c0002t0001others(3): Show | a0001c0001t0003g0249a0001c0001t0035g0140a0002c0002t0001g0136others(3): Show | 6 | 264 | 0.0227 | 8 | c.34- others(23): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133383517 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01168.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0026a0002c0002t0001others(1): Show | a0001c0001t0002g0006a0001c0001t0002g0062a0001c0001t0026g0228others(2): Show | 5 | 264 | 0.0189 | 8 | c.83+ others(23): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133491951 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03195.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0028a0001c0001t0029a0001c0001t0035others(2): Show | a0001c0001t0028g0142a0001c0001t0029g0010a0001c0001t0035g0140others(2): Show | 5 | 264 | 0.0189 | 8 | c.119 others(27): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 63798985 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02809.hp2 |
a0003a0017 | a0003c0019a0017c0013 | a0003c0019t0001a0017c0013t0001 | a0003c0019t0001g0006a0017c0013t0001g0017 | 2 | 24 | 0.0833 | 8 | c.741 others(27): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 37/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 63880487 | G | GTATCTAT others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02451.hp2 HG02622.hp1 others(5): Show |
a0001a0003a0004others(4): Show | a0001c0012a0003c0002a0003c0019others(5): Show | a0001c0012t0002a0003c0002t0002a0003c0019t0001others(5): Show | a0001c0012t0002g0021a0003c0002t0002g0019a0003c0019t0001g0006others(5): Show | 8 | 24 | 0.3333 | 8 | c.705 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 35/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64097055 | T | TGCAGAAC others(1): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 |
a0008a0016 | a0008c0007a0016c0014 | a0008c0007t0001a0016c0014t0001 | a0008c0007t0001g0009a0016c0014t0001g0005 | 2 | 24 | 0.0833 | 8 | c.642 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64167641 | T | TACAGACA others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02886.hp1 others(4): Show |
a0001a0005a0009others(4): Show | a0001c0009a0005c0010a0009c0006others(4): Show | a0001c0009t0001a0005c0010t0001a0009c0006t0001others(4): Show | a0001c0009t0001g0012a0005c0010t0001g0015a0009c0006t0001g0004others(4): Show | 7 | 24 | 0.2917 | 8 | c.642 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64248183 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02970.hp1 |
a0001a0010 | a0001c0009a0010c0003 | a0001c0009t0001a0010c0003t0001 | a0001c0009t0001g0012a0010c0003t0001g0016 | 2 | 24 | 0.0833 | 8 | c.619 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64265091 | G | GTTTACCC others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001a0003a0013others(3): Show | a0001c0012a0003c0002a0013c0020others(3): Show | a0001c0012t0002a0003c0002t0002a0013c0020t0002others(3): Show | a0001c0012t0002g0021a0003c0002t0002g0019a0013c0020t0002g0022others(3): Show | 6 | 24 | 0.2500 | 8 | c.619 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64377084 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 |
a0009a0017 | a0009c0006a0017c0013 | a0009c0006t0001a0017c0013t0001 | a0009c0006t0001g0004a0017c0013t0001g0017 | 2 | 24 | 0.0833 | 8 | c.607 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64529830 | A | AAGTACTA others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02809.hp1 others(3): Show |
a0002a0004a0007others(2): Show | a0002c0008a0002c0021a0004c0017others(3): Show | a0002c0008t0002a0002c0021t0001a0004c0017t0001others(3): Show | a0002c0008t0002g0020a0002c0021t0001g0008a0004c0017t0001g0002others(3): Show | 6 | 24 | 0.2500 | 8 | c.564 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64670402 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02630.hp1 HG02965.hp1 |
a0003a0011a0012 | a0003c0019a0011c0001a0012c0005 | a0003c0019t0001a0011c0001t0001a0012c0005t0001 | a0003c0019t0001g0006a0011c0001t0001g0013a0012c0005t0001g0014 | 3 | 24 | 0.1250 | 8 | c.344 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64757744 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02970.hp1 |
a0010a0015 | a0010c0003a0015c0011 | a0010c0003t0001a0015c0011t0002 | a0010c0003t0001g0016a0015c0011t0002g0018 | 2 | 24 | 0.0833 | 8 | c.344 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64838617 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02622.hp2 HG02630.hp1 others(1): Show |
a0001a0011a0021 | a0001c0009a0001c0012a0011c0001others(1): Show | a0001c0009t0001a0001c0012t0002a0011c0001t0001others(1): Show | a0001c0009t0001g0012a0001c0012t0002g0021a0011c0001t0001g0013others(1): Show | 4 | 24 | 0.1667 | 8 | c.299 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 19/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65091452 | G | GAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02451.hp2 HG02622.hp1 others(2): Show |
a0003a0004a0009others(1): Show | a0003c0002a0003c0019a0004c0017others(2): Show | a0003c0002t0002a0003c0019t0001a0004c0017t0001others(2): Show | a0003c0002t0002g0019a0003c0019t0001g0006a0004c0017t0001g0002others(2): Show | 5 | 24 | 0.2083 | 8 | c.202 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65115776 | A | ATATTTGT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02809.hp2 others(6): Show |
a0005a0006a0008others(6): Show | a0005c0010a0006c0022a0008c0007others(6): Show | a0005c0010t0001a0006c0022t0001a0008c0007t0001others(6): Show | a0005c0010t0001g0015a0006c0022t0001g0011a0008c0007t0001g0009others(6): Show | 9 | 24 | 0.3750 | 8 | c.202 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65115966 | A | AATCTATC others(1): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03195.hp1 |
a0007a0014 | a0007c0018a0014c0004 | a0007c0018t0001a0014c0004t0002 | a0007c0018t0001g0007a0014c0004t0002g0024 | 2 | 24 | 0.0833 | 8 | c.202 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65120460 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02896.hp1 HG03098.hp1 |
a0005a0006a0015 | a0005c0010a0006c0022a0015c0011 | a0005c0010t0001a0006c0022t0001a0015c0011t0002 | a0005c0010t0001g0015a0006c0022t0001g0011a0015c0011t0002g0018 | 3 | 24 | 0.1250 | 8 | c.202 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65208752 | A | AACACATG others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02451.hp1 HG02451.hp2 others(13): Show |
a0001a0003a0004others(11): Show | a0001c0009a0001c0012a0003c0002others(13): Show | a0001c0009t0001a0001c0012t0002a0003c0002t0002others(13): Show | a0001c0009t0001g0012a0001c0012t0002g0021a0003c0002t0002g0019others(13): Show | 16 | 24 | 0.6667 | 8 | c.202 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65263703 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03195.hp2 |
a0002a0019 | a0002c0021a0019c0023 | a0002c0021t0001a0019c0023t0001 | a0002c0021t0001g0008a0019c0023t0001g0010 | 2 | 24 | 0.0833 | 8 | c.202 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65358599 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02896.hp2 |
a0015a0018 | a0015c0011a0018c0016 | a0015c0011t0002a0018c0016t0001 | a0015c0011t0002g0018a0018c0016t0001g0003 | 2 | 24 | 0.0833 | 8 | c.130 others(27): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 8/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65382978 | T | TAGTACCA others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG02970.hp2 |
a0014a0017a0018 | a0014c0004a0017c0013a0018c0016 | a0014c0004t0002a0017c0013t0001a0018c0016t0001 | a0014c0004t0002g0024a0017c0013t0001g0017a0018c0016t0001g0003 | 3 | 24 | 0.1250 | 8 | c.129 others(27): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 8/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65492332 | G | GAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 |
a0002a0013 | a0002c0008a0013c0020 | a0002c0008t0002a0013c0020t0002 | a0002c0008t0002g0020a0013c0020t0002g0022 | 2 | 24 | 0.0833 | 8 | c.749 others(25): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 4/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65544001 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
a0006a0008a0017others(1): Show | a0006c0022a0008c0007a0017c0013others(1): Show | a0006c0022t0001a0008c0007t0001a0017c0013t0001others(1): Show | a0006c0022t0001g0011a0008c0007t0001g0009a0017c0013t0001g0017others(1): Show | 4 | 24 | 0.1667 | 8 | c.-33 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65556387 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03209.hp2 |
a0008a0020 | a0008c0007a0020c0015 | a0008c0007t0001a0020c0015t0002 | a0008c0007t0001g0009a0020c0015t0002g0023 | 2 | 24 | 0.0833 | 8 | c.-33 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65575326 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02896.hp2 HG02965.hp2 others(3): Show |
a0003a0007a0013others(3): Show | a0003c0002a0007c0018a0013c0020others(3): Show | a0003c0002t0002a0007c0018t0001a0013c0020t0002others(3): Show | a0003c0002t0002g0019a0007c0018t0001g0007a0013c0020t0002g0022others(3): Show | 6 | 24 | 0.2500 | 8 | c.-33 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65582198 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02630.hp2 HG02886.hp1 |
a0002a0003a0020 | a0002c0021a0003c0019a0020c0015 | a0002c0021t0001a0003c0019t0001a0020c0015t0002 | a0002c0021t0001g0008a0003c0019t0001g0006a0020c0015t0002g0023 | 3 | 24 | 0.1250 | 8 | c.-33 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65627014 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 |
a0004a0011 | a0004c0017a0011c0001 | a0004c0017t0001a0011c0001t0001 | a0004c0017t0001g0002a0011c0001t0001g0013 | 2 | 24 | 0.0833 | 8 | c.-33 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65680086 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02809.hp1 others(3): Show |
a0001a0002a0003others(3): Show | a0001c0012a0002c0008a0003c0002others(3): Show | a0001c0012t0002a0002c0008t0002a0003c0002t0002others(3): Show | a0001c0012t0002g0021a0002c0008t0002g0020a0003c0002t0002g0019others(3): Show | 6 | 24 | 0.2500 | 8 | c.-44 others(29): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 1/42 | chr6 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148813053 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02717.hp1 HG02818.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0085a0001c0001t0001g0092a0001c0001t0001g0093others(4): Show | 7 | 380 | 0.0184 | 8 | c.185 others(25): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 15/19 | chr7 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148834337 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18906.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0016a0001c0003t0001g0083a0001c0003t0001g0084 | 3 | 380 | 0.0079 | 8 | c.247 others(25): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 3/19 | chr7 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148839053 | T | TAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(98): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0020others(97): Show | 101 | 380 | 0.2658 | 8 | c.247 others(25): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 3/19 | chr7 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158774672 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01515.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0023 | a0001c0001t0001g0059a0001c0001t0001g0069a0001c0001t0001g0077others(17): Show | 20 | 312 | 0.0641 | 8 | c.795 others(25): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 8/13 | chr6 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158791705 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01433.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0192a0001c0001t0002g0203 | 4 | 312 | 0.0128 | 8 | c.13- others(23): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158791706 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(68): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0006 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(3): Show | a0001c0001t0002g0005a0001c0001t0002g0007a0001c0001t0002g0008others(65): Show | 71 | 312 | 0.2276 | 8 | c.13- others(23): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113148363 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03017.hp2 HG03704.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138a0001c0002t0001g0159a0001c0002t0001g0161others(2): Show | 5 | 412 | 0.0121 | 8 | c.866 others(23): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113148399 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02155.hp2 NA18967.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073a0001c0002t0001g0206a0001c0002t0001g0301 | 3 | 412 | 0.0073 | 8 | c.866 others(23): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
F10_chr13_113117799_113154529 | 113148399 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp2 others(53): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0002t0002a0001c0009t0001 | a0001c0002t0001g0024a0001c0002t0001g0041a0001c0002t0001g0049others(53): Show | 56 | 412 | 0.1359 | 8 | c.866 others(23): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
F11R_chr1_160990211_161026152 | 161010441 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(175): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0011others(128): Show | 178 | 392 | 0.4541 | 8 | c.65- others(23): Show |
F11R | ENSG00000158769.19 | transcript | ENST00000368026.11 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
F11R_chr1_160990211_161026152 | 161012600 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(134): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009others(105): Show | 137 | 392 | 0.3495 | 8 | c.64+ others(23): Show |
F11R | ENSG00000158769.19 | transcript | ENST00000368026.11 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
F11_chr4_186261189_186294681 | 186293275 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01099.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0009a0001c0004t0003g0016a0001c0004t0003g0045others(11): Show | 19 | 456 | 0.0417 | 8 | c.*46 others(19): Show |
F11 | ENSG00000088926.15 | transcript | ENST00000403665.7 | protein_coding | 3595 | chr4 | TogoVar | ||||||
F12_chr5_177397141_177414564 | 177409942 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(288): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(74): Show | 291 | 454 | 0.6410 | 8 | c.-42 others(17): Show |
F12 | ENSG00000131187.11 | transcript | ENST00000253496.4 | protein_coding | 379 | chr5 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6140421 | G | GTCTATCT others(1): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01257.hp2 HG01258.hp1 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(5): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0111a0001c0001t0001g0118others(29): Show | 32 | 292 | 0.1096 | 8 | c.*51 others(19): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 3662 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6161524 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00642.hp2 others(23): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0004others(8): Show | a0001c0001t0001g0064a0001c0001t0004g0076a0001c0001t0004g0082others(22): Show | 26 | 292 | 0.0890 | 8 | c.190 others(27): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 13/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6210324 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01943.hp2 HG02132.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0005 | a0001c0001t0001g0029a0001c0001t0001g0149a0001c0001t0002g0092others(2): Show | 5 | 292 | 0.0171 | 8 | c.111 others(29): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 8/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6238715 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01106.hp2 others(4): Show |
a0001a0003a0009others(1): Show | a0001c0001a0003c0003a0009c0008others(1): Show | a0001c0001t0001a0003c0003t0001a0009c0008t0003others(1): Show | a0001c0001t0001g0063a0001c0001t0001g0132a0001c0001t0001g0133others(4): Show | 7 | 292 | 0.0240 | 8 | c.798 others(25): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 6/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6313984 | C | CACTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(164): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(164): Show | 167 | 292 | 0.5719 | 8 | c.130 others(25): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar |