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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALK_chr2_29187774_29926586 | 29752348 | CTT | C | intron_variant | MODIFIER | HG01123.hp2 HG03195.hp2 HG03225.hp2 others(2): Show |
a0001a0004a0005 | a0001c0004a0001c0006a0001c0040others(2): Show | a0001c0004t0001a0001c0006t0001a0001c0040t0001others(2): Show | a0001c0004t0001g0021a0001c0006t0001g0026a0001c0040t0001g0022others(2): Show | 5 | 80 | 0.0625 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29757593 | TTG | T | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01109.hp2 others(1): Show |
a0001a0002a0004 | a0001c0004a0001c0058a0002c0049others(1): Show | a0001c0004t0001a0001c0058t0001a0002c0049t0001others(1): Show | a0001c0004t0001g0037a0001c0058t0001g0024a0002c0049t0001g0072others(1): Show | 4 | 80 | 0.0500 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29758005 | CTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02738.hp2 others(2): Show |
a0001a0003a0004 | a0001c0017a0001c0025a0003c0010others(2): Show | a0001c0017t0001a0001c0025t0011a0003c0010t0006others(2): Show | a0001c0017t0001g0012a0001c0025t0011g0074a0003c0010t0006g0001others(2): Show | 5 | 80 | 0.0625 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29785912 | TAC | T | intron_variant | MODIFIER | HG01106.hp1 HG02647.hp1 HG02895.hp1 |
a0001a0003 | a0001c0039a0001c0053a0003c0005 | a0001c0039t0013a0001c0053t0001a0003c0005t0002 | a0001c0039t0013g0079a0001c0053t0001g0070a0003c0005t0002g0048 | 3 | 80 | 0.0375 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29795177 | GAC | G | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG03139.hp1 others(2): Show |
a0001a0002a0004 | a0001c0006a0001c0023a0001c0025others(2): Show | a0001c0006t0007a0001c0023t0010a0001c0025t0011others(2): Show | a0001c0006t0007g0056a0001c0023t0010g0076a0001c0025t0011g0074others(2): Show | 5 | 80 | 0.0625 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29797000 | CCA | C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02055.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0020a0001c0025others(7): Show | a0001c0006t0007a0001c0020t0005a0001c0025t0011others(7): Show | a0001c0006t0007g0056a0001c0020t0005g0005a0001c0025t0011g0074others(7): Show | 10 | 80 | 0.1250 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29811234 | TCC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(52): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0009others(39): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0005others(39): Show | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0006t0001g0026others(52): Show | 55 | 80 | 0.6875 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830953 | GAA | G | intron_variant | MODIFIER | HG02055.hp2 HG02071.hp2 HG02280.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0025a0002c0008a0003c0003others(3): Show | a0001c0025t0011a0002c0008t0001a0003c0003t0002others(3): Show | a0001c0025t0011g0074a0002c0008t0001g0049a0003c0003t0002g0038others(3): Show | 6 | 80 | 0.0750 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831009 | GAA | G | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG02071.hp1 others(1): Show |
a0002a0003 | a0002c0001a0003c0005a0003c0015others(1): Show | a0002c0001t0001a0003c0005t0002a0003c0015t0002others(1): Show | a0002c0001t0001g0063a0003c0005t0002g0032a0003c0015t0002g0010others(1): Show | 4 | 80 | 0.0500 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831168 | AGG | A | intron_variant | MODIFIER | HG00323.hp1 HG02071.hp1 HG02486.hp1 |
a0001a0002a0003 | a0001c0038a0002c0001a0003c0015 | a0001c0038t0001a0002c0001t0001a0003c0015t0002 | a0001c0038t0001g0035a0002c0001t0001g0063a0003c0015t0002g0010 | 3 | 80 | 0.0375 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29844859 | GCA | G | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02622.hp1 others(1): Show |
a0003a0005a0008 | a0003c0043a0005c0013a0005c0021others(1): Show | a0003c0043t0002a0005c0013t0004a0005c0021t0004others(1): Show | a0003c0043t0002g0039a0005c0013t0004g0020a0005c0021t0004g0006others(1): Show | 4 | 80 | 0.0500 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29848347 | CTT | C | intron_variant | MODIFIER | HG01106.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
a0001a0004 | a0001c0039a0001c0053a0004c0002 | a0001c0039t0013a0001c0053t0001a0004c0002t0003 | a0001c0039t0013g0079a0001c0053t0001g0070a0004c0002t0003g0057others(1): Show | 4 | 80 | 0.0500 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29852832 | TTC | T | intron_variant | MODIFIER | HG00323.hp2 HG01891.hp2 HG02004.hp1 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0004a0001c0040a0002c0001others(4): Show | a0001c0004t0001a0001c0040t0001a0002c0001t0001others(4): Show | a0001c0004t0001g0021a0001c0040t0001g0022a0002c0001t0001g0033others(5): Show | 8 | 80 | 0.1000 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29858059 | ATG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(53): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(40): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0007others(41): Show | a0001c0004t0001g0021a0001c0006t0001g0026a0001c0006t0007g0056others(53): Show | 56 | 80 | 0.7000 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29884154 | ATC | A | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01891.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0009a0001c0037others(14): Show | a0001c0004t0001a0001c0009t0005a0001c0037t0005others(14): Show | a0001c0004t0001g0021a0001c0009t0005g0018a0001c0009t0005g0054others(16): Show | 19 | 80 | 0.2375 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29889254 | CAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00738.hp1 others(54): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(41): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0005others(41): Show | a0001c0004t0001g0021a0001c0006t0001g0026a0001c0006t0001g0036others(54): Show | 57 | 80 | 0.7125 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29889695 | CAG | C | intron_variant | MODIFIER | HG00323.hp1 HG03453.hp2 |
a0001a0003 | a0001c0016a0003c0015 | a0001c0016t0007a0003c0015t0002 | a0001c0016t0007g0004a0003c0015t0002g0010 | 2 | 80 | 0.0250 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29890315 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01106.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0023a0001c0025a0001c0027others(14): Show | a0001c0023t0010a0001c0025t0011a0001c0027t0001others(14): Show | a0001c0023t0010g0076a0001c0025t0011g0074a0001c0027t0001g0013others(17): Show | 20 | 80 | 0.2500 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29894851 | CAA | C | intron_variant | MODIFIER | HG02145.hp1 HG03139.hp1 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0006a0001c0023a0002c0001others(1): Show | a0001c0006t0007a0001c0023t0010a0002c0001t0001others(1): Show | a0001c0006t0007g0056a0001c0023t0010g0076a0002c0001t0001g0061others(1): Show | 4 | 80 | 0.0500 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29894853 | AAC | A | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG01891.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0009a0001c0037a0001c0051others(11): Show | a0001c0009t0005a0001c0037t0005a0001c0051t0001others(11): Show | a0001c0009t0005g0018a0001c0037t0005g0028a0001c0051t0001g0019others(12): Show | 15 | 80 | 0.1875 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29908280 | GCA | G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG03041.hp2 |
a0001a0002 | a0001c0009a0001c0027a0002c0028 | a0001c0009t0005a0001c0027t0001a0002c0028t0001 | a0001c0009t0005g0054a0001c0027t0001g0013a0002c0028t0001g0014 | 3 | 80 | 0.0375 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29908359 | CCT | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02280.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0048a0002c0008a0002c0011others(5): Show | a0001c0048t0001a0002c0008t0001a0002c0011t0001others(5): Show | a0001c0048t0001g0047a0002c0008t0001g0044a0002c0008t0001g0049others(7): Show | 10 | 80 | 0.1250 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29909480 | CAG | C | intron_variant | MODIFIER | HG01106.hp1 HG02071.hp2 HG02258.hp2 others(3): Show |
a0001a0003a0004 | a0001c0004a0001c0053a0003c0003others(3): Show | a0001c0004t0008a0001c0053t0001a0003c0003t0002others(3): Show | a0001c0004t0008g0003a0001c0053t0001g0070a0003c0003t0002g0038others(3): Show | 6 | 80 | 0.0750 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3661292 | CAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(79): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0002others(10): Show | a0001c0001t0001g0186a0001c0001t0001g0210a0001c0001t0001g0227others(74): Show | 82 | 274 | 0.2993 | -2 | c.-63 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3662029 | CAA | C | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01891.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0005a0002c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0005t0002others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0028a0001c0001t0001g0036others(22): Show | 25 | 274 | 0.0912 | -2 | c.-63 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3668566 | CTT | C | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp1 HG02071.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0227a0001c0001t0001g0231a0001c0001t0001g0248others(12): Show | 15 | 274 | 0.0547 | -2 | c.-62 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3675387 | CAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(182): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0012a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(171): Show | 185 | 274 | 0.6752 | -2 | c.84+ others(17): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73381516 | CAA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00621.hp2 others(106): Show |
a0002a0003a0004others(22): Show | a0002c0004a0002c0011a0002c0020others(34): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(34): Show | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0051others(106): Show | 109 | 248 | 0.4395 | -2 | c.-43 others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4319 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73392260 | ATG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(84): Show |
a0001a0002a0003others(27): Show | a0001c0001a0002c0004a0002c0011others(36): Show | a0001c0001t0001a0002c0004t0001a0002c0011t0001others(36): Show | a0001c0001t0001g0182a0001c0001t0001g0186a0002c0004t0001g0031others(84): Show | 87 | 248 | 0.3508 | -2 | c.324 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73396303 | TAC | T | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG02257.hp2 others(7): Show |
a0002a0010a0032others(2): Show | a0002c0004a0002c0054a0010c0009others(3): Show | a0002c0004t0001a0002c0054t0001a0010c0009t0001others(3): Show | a0002c0004t0001g0239a0002c0004t0001g0247a0002c0054t0001g0193others(7): Show | 10 | 248 | 0.0403 | -2 | c.324 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73401681 | CTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
a0006a0008a0026others(2): Show | a0006c0007a0006c0010a0008c0008others(3): Show | a0006c0007t0001a0006c0010t0001a0008c0008t0001others(3): Show | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | 248 | 0.0807 | -2 | c.325 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73402049 | TGA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(65): Show |
a0002a0004a0009others(13): Show | a0002c0004a0002c0011a0002c0047others(20): Show | a0002c0004t0001a0002c0011t0001a0002c0047t0001others(20): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(65): Show | 68 | 248 | 0.2742 | -2 | c.325 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73402270 | CTT | C | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
a0008a0027a0028 | a0008c0008a0027c0032a0028c0033 | a0008c0008t0001a0027c0032t0001a0028c0033t0001 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | 248 | 0.0323 | -2 | c.325 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73408864 | CTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG01891.hp1 others(9): Show |
a0006a0008a0026others(1): Show | a0006c0010a0008c0008a0026c0057others(1): Show | a0006c0010t0001a0008c0008t0001a0026c0057t0001others(1): Show | a0006c0010t0001g0096a0006c0010t0001g0097a0006c0010t0001g0103others(9): Show | 12 | 248 | 0.0484 | -2 | c.450 others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73414473 | GTT | G | intron_variant | MODIFIER | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
a0002a0011a0012others(2): Show | a0002c0023a0002c0054a0011c0022others(5): Show | a0002c0023t0001a0002c0054t0001a0011c0022t0001others(5): Show | a0002c0023t0001g0195a0002c0023t0001g0196a0002c0054t0001g0193others(11): Show | 14 | 248 | 0.0565 | -2 | c.451 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73429278 | CTT | C | intron_variant | MODIFIER | HG01069.hp2 HG02055.hp2 HG02896.hp1 others(2): Show |
a0002a0004a0011others(1): Show | a0002c0004a0004c0003a0011c0022others(1): Show | a0002c0004t0001a0004c0003t0002a0011c0022t0001others(1): Show | a0002c0004t0001g0036a0004c0003t0002g0067a0011c0022t0001g0200others(2): Show | 5 | 248 | 0.0202 | -2 | c.133 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73468310 | ACT | A | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
a0005a0017a0024others(1): Show | a0005c0005a0005c0058a0017c0017others(2): Show | a0005c0005t0001a0005c0058t0001a0017c0017t0003others(2): Show | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | 248 | 0.0686 | -2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73470633 | CTG | C | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
a0005a0017a0024others(1): Show | a0005c0005a0005c0058a0017c0017others(2): Show | a0005c0005t0001a0005c0058t0001a0017c0017t0003others(2): Show | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(14): Show | 17 | 248 | 0.0686 | -2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73473684 | AAG | A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
a0005a0008a0017others(4): Show | a0005c0005a0005c0058a0008c0008others(5): Show | a0005c0005t0001a0005c0058t0001a0008c0008t0001others(5): Show | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | 248 | 0.1008 | -2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73473920 | AAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
a0001a0006a0007others(16): Show | a0001c0001a0001c0066a0006c0007others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0066t0001others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(90): Show | 93 | 248 | 0.3750 | -2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73474371 | CTG | C | intron_variant | MODIFIER | HG03225.hp2 NA19009.hp2 NA20129.hp1 |
a0010a0039a0043 | a0010c0009a0039c0037a0043c0062 | a0010c0009t0001a0039c0037t0001a0043c0062t0001 | a0010c0009t0001g0187a0039c0037t0001g0032a0043c0062t0001g0120 | 3 | 248 | 0.0121 | -2 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73492968 | TAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01099.hp2 others(31): Show |
a0002a0005a0006others(4): Show | a0002c0011a0002c0020a0002c0040others(8): Show | a0002c0011t0001a0002c0020t0001a0002c0040t0001others(8): Show | a0002c0011t0001g0042a0002c0020t0001g0207a0002c0020t0001g0208others(31): Show | 34 | 248 | 0.1371 | -2 | c.953 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73493346 | TAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
a0002a0004a0005others(20): Show | a0002c0004a0002c0011a0002c0020others(32): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(32): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(81): Show | 84 | 248 | 0.3387 | -2 | c.953 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73500746 | CAG | C | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
a0008a0027a0028 | a0008c0008a0027c0032a0028c0033 | a0008c0008t0001a0027c0032t0001a0028c0033t0001 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(5): Show | 8 | 248 | 0.0323 | -2 | c.953 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73515768 | TAC | T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0001a0004a0006others(4): Show | a0001c0001a0004c0003a0006c0010others(5): Show | a0001c0001t0001a0004c0003t0002a0006c0010t0001others(5): Show | a0001c0001t0001g0153a0001c0001t0001g0160a0004c0003t0002g0091others(9): Show | 12 | 248 | 0.0484 | -2 | c.954 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73520441 | CAT | C | intron_variant | MODIFIER | HG02602.hp1 HG02698.hp1 HG03688.hp2 |
a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0074a0004c0003t0002g0077a0004c0003t0002g0078 | 3 | 248 | 0.0121 | -2 | c.978 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73521580 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(105): Show |
a0002a0004a0005others(25): Show | a0002c0004a0002c0011a0002c0023others(38): Show | a0002c0004t0001a0002c0011t0001a0002c0023t0001others(38): Show | a0002c0004t0001g0031a0002c0004t0001g0033a0002c0004t0001g0034others(105): Show | 108 | 248 | 0.4355 | -2 | c.978 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73522467 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(118): Show |
a0002a0003a0004others(28): Show | a0002c0004a0002c0011a0002c0020others(42): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(42): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(118): Show | 121 | 248 | 0.4879 | -2 | c.978 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73528673 | ATT | A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0006a0026 | a0006c0007a0006c0010a0026c0057 | a0006c0007t0001a0006c0010t0001a0026c0057t0001 | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(9): Show | 12 | 248 | 0.0484 | -2 | c.978 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73529039 | GTT | G | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(16): Show |
a0002a0006a0011others(2): Show | a0002c0054a0006c0007a0006c0010others(5): Show | a0002c0054t0001a0006c0007t0001a0006c0010t0001others(5): Show | a0002c0054t0001g0193a0006c0007t0001g0098a0006c0007t0001g0099others(16): Show | 19 | 248 | 0.0766 | -2 | c.978 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |