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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8B1_chr18_57641426_57808315 | 57713475 | T | TTTTTA | intron_variant | MODIFIER | HG00544.hp1 HG02080.hp1 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0011a0001c0001t0048others(3): Show | a0001c0001t0004g0128a0001c0001t0011g0184a0001c0001t0048g0312others(5): Show | 8 | 314 | 0.0255 | 5 | c.182 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57729549 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01256.hp2 others(17): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0061others(17): Show | 20 | 314 | 0.0637 | 5 | c.181 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57761112 | T | TATAAA | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00642.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(41): Show | 44 | 314 | 0.1401 | 5 | c.-25 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57773200 | T | TAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG02451.hp1 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0083a0001c0001t0001g0096a0001c0001t0003g0195others(2): Show | 5 | 314 | 0.0159 | 5 | c.-26 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57774603 | T | TAAATA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(170): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(170): Show | 173 | 314 | 0.5510 | 5 | c.-26 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG01099.hp1 others(27): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0058a0001c0001t0001g0059others(27): Show | 30 | 314 | 0.0955 | 5 | c.-26 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1780973 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02523.hp2 HG02735.hp1 others(8): Show |
a0000a0001a0002others(2): Show | a0000c0035a0001c0001a0001c0008others(6): Show | a0000c0035t0007a0001c0001t0001a0001c0008t0002others(6): Show | a0000c0035t0007g0165a0000c0035t0007g0166a0001c0001t0001g0142others(8): Show | 11 | 390 | 0.0282 | 5 | c.*20 others(16): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 1101 | chr19 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49948281 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG02630.hp1 others(10): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(6): Show | a0001c0001t0001g0179a0001c0001t0002g0006a0001c0001t0002g0021others(10): Show | 13 | 254 | 0.0512 | 5 | c.128 others(26): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 14/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50029238 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp2 others(50): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0021others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(19): Show | a0001c0001t0001g0179a0001c0001t0001g0230a0001c0001t0002g0006others(50): Show | 53 | 254 | 0.2087 | 5 | c.362 others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086180 | T | TATATG | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG01243.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0016a0002c0002t0001others(5): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0016g0031others(8): Show | 11 | 254 | 0.0433 | 5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086216 | T | TATATG | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0110a0001c0001t0002g0068a0001c0001t0002g0077others(34): Show | 37 | 254 | 0.1457 | 5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086252 | T | TATATG | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG02080.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0016a0002c0002t0001others(3): Show | a0001c0001t0002g0086a0001c0001t0016g0031a0002c0002t0001g0228others(4): Show | 7 | 254 | 0.0276 | 5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086288 | T | TATATG | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00741.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0002g0071others(22): Show | 25 | 254 | 0.0984 | 5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50114103 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136others(53): Show | 57 | 254 | 0.2244 | 5 | c.-43 others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51623801 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(14): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0002t0020a0001c0002t0027others(4): Show | a0001c0002t0005g0067a0001c0002t0005g0083a0001c0002t0005g0142others(14): Show | 17 | 312 | 0.0545 | 5 | c.201 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 18/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51633764 | G | GAGAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0030a0001c0001t0001g0037a0001c0001t0001g0168others(75): Show | 78 | 312 | 0.2500 | 5 | c.166 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51668086 | T | TGGGGG | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(20): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0035a0001c0001t0001g0190a0001c0001t0001g0268others(20): Show | 23 | 312 | 0.0737 | 5 | c.129 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51681427 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(29): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(12): Show | a0001c0002t0002g0161a0001c0002t0003g0066a0001c0002t0005g0048others(29): Show | 32 | 312 | 0.1026 | 5 | c.800 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51685581 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0001g0031others(150): Show | 153 | 312 | 0.4904 | 5 | c.799 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51687774 | A | ATGAAT | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007a0001c0002t0011others(2): Show | a0001c0002t0002g0005a0001c0002t0007g0006a0001c0002t0007g0016others(3): Show | 6 | 312 | 0.0192 | 5 | c.799 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51729751 | A | AACATG | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01081.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0049others(12): Show | a0001c0001t0003g0124a0001c0001t0003g0125a0001c0001t0013g0060others(18): Show | 21 | 312 | 0.0673 | 5 | c.213 others(18): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 2/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79086435 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(109): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0004a0001c0006others(13): Show | a0001c0001t0001a0001c0004t0003a0001c0006t0003others(21): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(109): Show | 112 | 298 | 0.3758 | 5 | c.120 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79118390 | G | GGTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02056.hp1 HG02129.hp2 others(5): Show |
a0002a0005 | a0002c0002a0002c0005a0002c0032others(2): Show | a0002c0002t0002a0002c0005t0001a0002c0032t0005others(2): Show | a0002c0002t0002g0181a0002c0002t0002g0189a0002c0002t0002g0234others(5): Show | 8 | 298 | 0.0269 | 5 | c.558 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79249401 | T | TAAAAC | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0004a0001c0039 | a0001c0004t0002a0001c0004t0003a0001c0039t0002 | a0001c0004t0002g0095a0001c0004t0002g0096a0001c0004t0002g0097others(2): Show | 5 | 298 | 0.0168 | 5 | c.110 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79256502 | T | TTTTTC | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0004a0001c0039 | a0001c0004t0002a0001c0004t0003a0001c0039t0002 | a0001c0004t0002g0095a0001c0004t0002g0096a0001c0004t0002g0097others(2): Show | 5 | 298 | 0.0168 | 5 | c.126 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATPAF1_chr1_46627737_46673364 | 46646435 | C | CTGATA | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG02897.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0004 | a0001c0001t0003g0124a0001c0001t0003g0125a0002c0002t0004g0066 | 3 | 412 | 0.0073 | 5 | c.589 others(22): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
ATPAF1_chr1_46627737_46673364 | 46654527 | A | ATTTAT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0014others(42): Show | 88 | 412 | 0.2136 | 5 | c.490 others(20): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
ATRIP_chr3_48441737_48472645 | 48449413 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02647.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0001a0001c0001t0018a0001c0001t0019others(3): Show | a0001c0001t0001g0100a0001c0001t0018g0041a0001c0001t0019g0040others(4): Show | 12 | 360 | 0.0333 | 5 | c.248 others(20): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115223929 | A | ATTTTT | intron_variant | MODIFIER | HG01258.hp1 HG01515.hp2 HG01943.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0002g0080a0001c0001t0002g0123a0001c0001t0008g0079others(7): Show | 10 | 128 | 0.0781 | 5 | c.153 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115225475 | T | TTAATA | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0096a0001c0001t0003g0104a0001c0001t0010g0033others(3): Show | 6 | 128 | 0.0469 | 5 | c.153 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115230922 | A | AGAGAG | intron_variant | MODIFIER | HG02615.hp1 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0051a0001c0002t0004g0067 | 2 | 128 | 0.0156 | 5 | c.153 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115239221 | A | ATTATT | intron_variant | MODIFIER | NA19003.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0046a0001c0006t0033 | a0001c0001t0046g0099a0001c0006t0033g0035 | 2 | 128 | 0.0156 | 5 | c.153 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115269884 | T | TTAATC | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(38): Show | a0001c0001t0001g0120a0001c0001t0002g0015a0001c0001t0002g0077others(55): Show | 58 | 128 | 0.4531 | 5 | c.210 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115282065 | C | CATATA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0120a0001c0001t0002g0015a0001c0001t0002g0077others(45): Show | 48 | 128 | 0.3750 | 5 | c.223 others(22): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115297134 | T | TCTTAA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00735.hp1 others(115): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(115): Show | 118 | 128 | 0.9219 | 5 | c.241 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115351742 | G | GTGTTT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(14): Show | a0001c0001t0001g0070a0001c0001t0002g0111a0001c0001t0002g0113others(18): Show | 21 | 128 | 0.1641 | 5 | c.317 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115351742 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(1): Show | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(3): Show | 6 | 128 | 0.0469 | 5 | c.317 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115368579 | G | GTACAA | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(3): Show | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(5): Show | 8 | 128 | 0.0625 | 5 | c.317 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115632864 | T | TTTTTA | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01071.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0098a0001c0001t0001g0120a0001c0001t0001g0124others(20): Show | 23 | 128 | 0.1797 | 5 | c.379 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115683548 | G | GTTTTT | intron_variant | MODIFIER | HG02132.hp1 HG02145.hp2 HG02723.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0013a0002c0008t0011 | a0001c0001t0002g0077a0001c0001t0002g0080a0001c0001t0013g0019others(1): Show | 4 | 128 | 0.0313 | 5 | c.379 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115713705 | C | CTATCT | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0019a0001c0001t0042others(1): Show | a0001c0001t0002g0111a0001c0001t0002g0114a0001c0001t0019g0020others(2): Show | 5 | 128 | 0.0391 | 5 | c.379 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115743238 | T | TAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0068others(55): Show | 58 | 128 | 0.4531 | 5 | c.390 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115802046 | A | ACACAC | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0016others(2): Show | a0001c0001t0014g0001a0001c0001t0015g0064a0001c0001t0016g0031others(2): Show | 5 | 128 | 0.0391 | 5 | c.390 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115868822 | C | CTTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0007a0001c0001t0017a0001c0006t0013others(2): Show | a0001c0001t0007g0027a0001c0001t0017g0028a0001c0006t0013g0029others(2): Show | 5 | 128 | 0.0391 | 5 | c.401 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3519006 | T | TAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01106.hp1 others(6): Show |
a0001a0003a0017 | a0001c0007a0003c0008a0003c0017others(2): Show | a0001c0007t0006a0003c0008t0005a0003c0008t0029others(3): Show | a0001c0007t0006g0201a0001c0007t0006g0202a0001c0007t0006g0203others(6): Show | 9 | 220 | 0.0409 | 5 | c.411 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3588981 | G | GTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp1 HG01175.hp2 others(16): Show |
a0001a0007a0016others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0027a0001c0001t0001g0048others(16): Show | 19 | 220 | 0.0864 | 5 | c.318 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3620219 | A | AGTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG01891.hp2 others(16): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0012others(11): Show | a0001c0001t0005g0121a0001c0001t0010g0011a0001c0001t0010g0025others(16): Show | 19 | 220 | 0.0864 | 5 | c.380 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3641590 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0010a0001c0001t0014a0001c0002t0004others(5): Show | a0001c0001t0010g0025a0001c0001t0014g0010a0001c0002t0004g0124others(8): Show | 11 | 220 | 0.0500 | 5 | c.405 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3647278 | A | ATTAAC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(68): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(204): Show | 207 | 220 | 0.9409 | 5 | c.*43 others(14): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 29/29 | 434 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
ATRX_chrX_77499880_77791216 | 77509911 | C | CGGGGG | intron_variant | MODIFIER | HG01243.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021 | a0001c0001t0008g0077a0001c0001t0021g0078 | 2 | 218 | 0.0092 | 5 | c.720 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 34/34 | chrX | TogoVar |