view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMC2_chr20_2531573_2648580 | 2608300 | TTTA | T | intron_variant | MODIFIER | HG01081.hp1 HG01516.hp2 HG01517.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0013others(6): Show | a0001c0001t0020a0001c0005t0002a0001c0013t0001others(8): Show | a0001c0001t0020g0278 a0001c0005t0002g0297 a0001c0013t0001g0010 others(9): Show |
12 | 344 | 0.0349 | -3 | c.141 others(22): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2638548 | CAGA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00621.hp1 others(53): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0018others(12): Show | a0001c0001t0003a0001c0003t0003a0001c0003t0023others(14): Show | a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0003t0003g0017 others(53): Show |
56 | 344 | 0.1628 | -3 | c.250 others(20): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2641174 | CAAG | C | conservative_inframe_deletion | MODERATE | NA18941.hp1 NA18960.hp1 NA18975.hp2 others(8): Show |
a0005a0006 | a0005c0009a0006c0012 | a0005c0009t0003a0005c0009t0022a0006c0012t0003 | a0005c0009t0003g0008 a0005c0009t0003g0148 a0005c0009t0003g0150 others(8): Show |
11 | 344 | 0.0320 | -3 | c.254 others(12): Show |
p.Lys others(6): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 20/20 | 2597/4999 | 2548/2721 | 850/906 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
TMC2_chr20_2531573_2648580 | 2642902 | CAGG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG03490.hp2 others(4): Show |
a0001a0009 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0007a0001c0003t0007a0001c0018t0007others(1): Show | a0001c0001t0007g0275 a0001c0003t0007g0192 a0001c0003t0007g0197 others(4): Show |
7 | 344 | 0.0204 | -3 | c.*15 others(14): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 20/20 | 1554 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2645321 | TGAG | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0010others(32): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(57): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(236): Show |
240 | 344 | 0.6977 | -3 | c.*39 others(14): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 1742 | chr20 | TogoVar | |||||||
TMC3_chr15_81326088_81379213 | 81354861 | ATGT | A | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01123.hp2 others(65): Show |
a0001a0003a0011others(2): Show | a0001c0006a0003c0003a0003c0018others(3): Show | a0001c0006t0002a0001c0006t0006a0003c0003t0003others(8): Show | a0001c0006t0002g0179 a0001c0006t0002g0180 a0001c0006t0002g0184 others(51): Show |
68 | 390 | 0.1744 | -3 | c.935 others(18): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 9/21 | chr15 | TogoVar | |||||||
TMC3_chr15_81326088_81379213 | 81365683 | AAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(103): Show |
a0001a0002a0003others(10): Show | a0001c0006a0002c0002a0002c0011others(13): Show | a0001c0006t0002a0001c0006t0006a0002c0002t0002others(19): Show | a0001c0006t0002g0179 a0001c0006t0002g0180 a0001c0006t0002g0184 others(77): Show |
106 | 390 | 0.2718 | -3 | c.312 others(20): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 3/21 | chr15 | TogoVar | |||||||
TMC3_chr15_81326088_81379213 | 81372896 | TGTA | T | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02257.hp1 others(5): Show |
a0010a0011a0018others(1): Show | a0010c0013a0011c0015a0018c0021others(1): Show | a0010c0013t0002a0011c0015t0003a0018c0021t0002others(1): Show | a0010c0013t0002g0199 a0010c0013t0002g0201 a0010c0013t0002g0203 others(4): Show |
8 | 390 | 0.0205 | -3 | c.90- others(16): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 1/21 | chr15 | TogoVar | |||||||
TMC3_chr15_81326088_81379213 | 81372901 | AGTG | A | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02257.hp1 others(6): Show |
a0010a0011a0018others(2): Show | a0010c0013a0011c0015a0018c0021others(2): Show | a0010c0013t0002a0011c0015t0003a0018c0021t0002others(2): Show | a0010c0013t0002g0199 a0010c0013t0002g0201 a0010c0013t0002g0203 others(5): Show |
9 | 390 | 0.0231 | -3 | c.90- others(16): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 1/21 | chr15 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54162382 | TTGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(100): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0012a0003c0003others(10): Show | a0001c0001t0001a0001c0012t0001a0003c0003t0001others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(98): Show |
103 | 407 | 0.2531 | -3 | c.150 others(19): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 10/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54163308 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(81): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0003a0003c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(78): Show |
84 | 407 | 0.2064 | -3 | c.127 others(20): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 8/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54168901 | TTTC | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG01168.hp1 others(3): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0002a0006c0010t0002 | a0002c0002t0002g0296 a0002c0002t0002g0327 a0002c0002t0002g0334 others(3): Show |
6 | 407 | 0.0147 | -3 | c.443 others(18): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54168913 | TTCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG02055.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0035 others(8): Show |
12 | 407 | 0.0295 | -3 | c.443 others(18): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54168917 | TTCC | T | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02922.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0155 a0001c0001t0001g0211 a0003c0005t0001g0238 others(1): Show |
4 | 407 | 0.0098 | -3 | c.443 others(18): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54169007 | TATA | T | intron_variant | MODIFIER | HG00733.hp2 HG02109.hp2 HG03492.hp2 others(1): Show |
a0003a0004 | a0003c0005a0004c0004 | a0003c0005t0001a0004c0004t0002 | a0003c0005t0001g0185 a0004c0004t0002g0365 a0004c0004t0002g0366 others(1): Show |
4 | 407 | 0.0098 | -3 | c.443 others(18): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54169008 | ATAT | A | intron_variant | MODIFIER | HG01928.hp2 HG02257.hp1 NA18612.hp2 others(6): Show |
a0004a0005a0009others(1): Show | a0004c0004a0005c0006a0009c0014others(1): Show | a0004c0004t0002a0005c0006t0002a0009c0014t0002others(1): Show | a0004c0004t0002g0374 a0004c0004t0002g0376 a0005c0006t0002g0388 others(6): Show |
9 | 407 | 0.0221 | -3 | c.443 others(18): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54169010 | ATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00597.hp2 others(60): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0003c0005others(5): Show | a0001c0001t0001a0003c0003t0001a0003c0005t0001others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0081 a0001c0001t0001g0096 others(58): Show |
63 | 407 | 0.1548 | -3 | c.443 others(18): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54171999 | GCCC | G | disruptive_inframe_deletion | MODERATE | HG00438.hp1 HG00673.hp2 HG01928.hp2 others(13): Show |
a0005 | a0005c0006a0005c0020 | a0005c0006t0002a0005c0020t0002 | a0005c0006t0002g0007 a0005c0006t0002g0008 a0005c0006t0002g0384 others(11): Show |
16 | 407 | 0.0393 | -3 | c.161 others(10): Show |
p.Gly others(5): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 2/15 | 206/2362 | 161/2121 | 54/706 | chr19 | TogoVar | |||
TMC5_chr16_19412883_19504113 | 19413523 | CAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(41): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0110 a0001c0001t0001g0130 a0001c0001t0001g0153 others(41): Show |
44 | 336 | 0.1310 | -3 | c.-48 others(14): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 4359 | chr16 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19419299 | CTGT | C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(16): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0111 others(16): Show |
19 | 336 | 0.0566 | -3 | c.-30 others(22): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19419402 | GTTT | G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG01934.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0004g0104 others(9): Show |
12 | 336 | 0.0357 | -3 | c.-30 others(22): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19434051 | TATA | T | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp2 HG02055.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(4): Show | a0001c0001t0004g0046 a0001c0001t0004g0105 a0001c0001t0007g0016 others(19): Show |
22 | 336 | 0.0655 | -3 | c.-80 others(20): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19438406 | AAAG | A | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01123.hp1 others(45): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0009a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0310 others(45): Show |
48 | 336 | 0.1429 | -3 | c.-79 others(20): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19442325 | ATTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(177): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0002c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(177): Show |
180 | 336 | 0.5357 | -3 | c.788 others(20): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19446014 | CAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01175.hp2 others(20): Show |
a0001a0010 | a0001c0001a0001c0009a0010c0027 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0003g0012 others(20): Show |
23 | 336 | 0.0685 | -3 | c.958 others(20): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19457709 | CTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02486.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0004g0142 a0001c0001t0007g0050 a0001c0001t0007g0062 others(7): Show |
10 | 336 | 0.0298 | -3 | c.104 others(22): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19464977 | TTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(86): Show |
a0001a0008a0009 | a0001c0001a0001c0007a0008c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(86): Show |
89 | 336 | 0.2649 | -3 | c.148 others(20): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19470721 | TAAA | T | intron_variant | MODIFIER | HG01123.hp1 HG01175.hp2 HG01361.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0045 a0001c0001t0001g0100 others(28): Show |
31 | 336 | 0.0923 | -3 | c.178 others(20): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19480804 | CAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0001c0001t0017a0002c0025t0022 | a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0111 others(6): Show |
9 | 336 | 0.0268 | -3 | c.226 others(20): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19490768 | CTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0024 | a0001c0001t0008g0001 a0001c0001t0008g0096 a0001c0001t0008g0138 others(8): Show |
11 | 336 | 0.0327 | -3 | c.274 others(20): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19496887 | CAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG01123.hp2 others(75): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0005a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0029 others(75): Show |
78 | 336 | 0.2321 | -3 | c.293 others(20): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19499744 | TGTA | T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01928.hp2 others(3): Show |
a0001a0007 | a0001c0001a0007c0024 | a0001c0001t0003a0007c0024t0003 | a0001c0001t0003g0027 a0001c0001t0003g0066 a0001c0001t0003g0073 others(3): Show |
6 | 336 | 0.0179 | -3 | c.*17 others(14): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 632 | chr16 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19501299 | CTTT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(110): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0111 a0001c0001t0001g0187 a0001c0001t0002g0007 others(110): Show |
113 | 336 | 0.3363 | -3 | c.*33 others(14): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2187 | chr16 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78120152 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(170): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0036others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(76): Show | a0001c0001t0001g0238 a0001c0001t0001g0254 a0001c0001t0001g0255 others(167): Show |
173 | 444 | 0.3896 | -3 | c.171 others(20): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 13/19 | chr17 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78128798 | CGGG | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01106.hp2 others(45): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0005a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(24): Show | a0001c0001t0002g0015 a0001c0001t0007g0081 a0001c0001t0008g0089 others(45): Show |
48 | 444 | 0.1081 | -3 | c.-26 others(12): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 44 | chr17 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 18982260 | AATC | A | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0026 | a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0206 others(2): Show |
5 | 282 | 0.0177 | -3 | c.-18 others(14): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1673 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 18982905 | CAGG | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp1 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0212 a0001c0001t0001g0213 others(67): Show |
71 | 282 | 0.2518 | -3 | c.-11 others(14): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1028 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19004041 | TTAA | T | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00738.hp2 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(16): Show | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(56): Show |
59 | 282 | 0.2092 | -3 | c.68- others(18): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19012129 | CAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(132): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(26): Show | a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0069 others(132): Show |
135 | 282 | 0.4787 | -3 | c.311 others(20): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19012788 | CAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00673.hp1 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0006others(16): Show | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0106 others(59): Show |
62 | 282 | 0.2199 | -3 | c.311 others(20): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19017667 | GTTT | G | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02886.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0010a0005c0007t0013a0005c0007t0021 | a0001c0001t0010g0209 a0001c0001t0010g0210 a0001c0001t0010g0211 others(3): Show |
6 | 282 | 0.0213 | -3 | c.460 others(20): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19037401 | AAAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(92): Show |
a0002a0007a0009others(1): Show | a0002c0002a0002c0003a0002c0013others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(17): Show | a0002c0002t0001g0029 a0002c0002t0002g0016 a0002c0002t0002g0017 others(92): Show |
95 | 282 | 0.3369 | -3 | c.100 others(20): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19040533 | TGTA | T | intron_variant | MODIFIER | HG03225.hp2 HG03486.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 |
3 | 282 | 0.0106 | -3 | c.133 others(18): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19045591 | CTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(205): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(38): Show | a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0062 others(204): Show |
208 | 282 | 0.7376 | -3 | c.155 others(20): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19050366 | CAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp1 others(46): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0030others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0062 others(45): Show |
49 | 282 | 0.1738 | -3 | c.174 others(22): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19068675 | AAAG | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG01069.hp1 others(79): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0028others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0062 others(78): Show |
82 | 282 | 0.2908 | -3 | c.*68 others(14): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 4734 | chr16 | TogoVar | |||||||
TMC8_chr17_78125771_78147968 | 78128798 | CGGG | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01106.hp2 others(45): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0001g0150 a0001c0001t0005g0009 a0001c0001t0007g0001 others(29): Show |
48 | 454 | 0.1057 | -3 | c.-23 others(14): Show |
TMC8 | ENSG00000167895.16 | transcript | ENST00000318430.10 | protein_coding | 1972 | chr17 | TogoVar | |||||||
TMC8_chr17_78125771_78147968 | 78139728 | TAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(60): Show |
a0001a0002a0020 | a0001c0001a0002c0004a0020c0022 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0004g0001 a0001c0001t0004g0036 a0001c0001t0004g0037 others(19): Show |
63 | 454 | 0.1388 | -3 | c.190 others(20): Show |
TMC8 | ENSG00000167895.16 | transcript | ENST00000318430.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMC8_chr17_78125771_78147968 | 78141333 | GTTT | G | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(8): Show | a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0036 others(31): Show |
87 | 454 | 0.1916 | -3 | c.*22 others(12): Show |
TMC8 | ENSG00000167895.16 | transcript | ENST00000318430.10 | protein_coding | 16/16 | 225 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TMC8_chr17_78125771_78147968 | 78142978 | GTTT | G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01516.hp2 NA18522.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0005 | a0001c0001t0005g0006 a0001c0001t0005g0019 a0001c0001t0005g0074 others(2): Show |
8 | 454 | 0.0176 | -3 | c.*18 others(14): Show |
TMC8 | ENSG00000167895.16 | transcript | ENST00000318430.10 | protein_coding | 11 | chr17 | TogoVar |