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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTN_chr2_178520989_178812423 | 178647040 | GTA | G | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00735.hp1 others(58): Show |
a0004a0009a0017others(48): Show | a0004c0004a0004c0015a0009c0093others(51): Show | a0004c0004t0001a0004c0015t0001a0009c0093t0001others(51): Show | a0004c0004t0001g0168 a0004c0004t0001g0172 a0004c0004t0001g0173 others(58): Show |
61 | 242 | 0.2521 | -2 | c.402 others(19): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 215/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178677335 | CAT | C | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG02896.hp1 others(3): Show |
a0018a0019a0067others(1): Show | a0018c0009a0019c0019a0067c0030others(1): Show | a0018c0009t0001a0019c0019t0001a0067c0030t0001others(1): Show | a0018c0009t0001g0236 a0018c0009t0001g0237 a0019c0019t0001g0093 others(3): Show |
6 | 242 | 0.0248 | -2 | c.342 others(19): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 146/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178698363 | TAA | T | intron_variant | MODIFIER | HG01257.hp1 HG01358.hp2 HG01433.hp1 others(5): Show |
a0014a0021a0044others(3): Show | a0014c0178a0014c0180a0021c0011others(4): Show | a0014c0178t0001a0014c0180t0001a0021c0011t0001others(4): Show | a0014c0178t0001g0062 a0014c0180t0001g0068 a0021c0011t0001g0149 others(5): Show |
8 | 242 | 0.0331 | -2 | c.307 others(21): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 112/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178752043 | GAA | G | intron_variant | MODIFIER | HG01496.hp2 HG01952.hp1 HG02683.hp1 others(2): Show |
a0021a0084a0097others(2): Show | a0021c0011a0084c0050a0097c0139others(2): Show | a0021c0011t0001a0084c0050t0002a0097c0139t0002others(2): Show | a0021c0011t0001g0179 a0084c0050t0002g0129 a0097c0139t0002g0100 others(2): Show |
5 | 242 | 0.0207 | -2 | c.113 others(23): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 47/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178760848 | GGT | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(73): Show |
a0001a0003a0005others(64): Show | a0001c0195a0003c0006a0003c0146others(69): Show | a0001c0195t0001a0003c0006t0002a0003c0146t0002others(69): Show | a0001c0195t0001g0042 a0003c0006t0002g0083 a0003c0006t0002g0101 others(73): Show |
76 | 242 | 0.3141 | -2 | c.101 others(23): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 43/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178769649 | GTA | G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(236): Show |
a0001a0002a0003others(187): Show | a0001c0001a0001c0021a0001c0171others(205): Show | a0001c0001t0001a0001c0021t0001a0001c0171t0001others(205): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0035 others(235): Show |
239 | 242 | 0.9876 | -2 | c.890 others(17): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 37/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178781905 | AGT | A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00735.hp2 others(31): Show |
a0011a0020a0023others(28): Show | a0011c0007a0020c0010a0023c0016others(28): Show | a0011c0007t0002a0020c0010t0002a0023c0016t0001others(28): Show | a0011c0007t0002g0116 a0011c0007t0002g0117 a0020c0010t0002g0134 others(31): Show |
34 | 242 | 0.1405 | -2 | c.338 others(19): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 20/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178797380 | CAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00642.hp1 others(29): Show |
a0005a0006a0078others(27): Show | a0005c0005a0005c0117a0006c0018others(28): Show | a0005c0005t0001a0005c0117t0001a0006c0018t0002others(28): Show | a0005c0005t0001g0228 a0005c0117t0001g0221 a0006c0018t0002g0102 others(29): Show |
32 | 242 | 0.1322 | -2 | c.914 others(19): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 6/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178807749 | GCC | G | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01175.hp2 others(12): Show |
a0003a0019a0070others(7): Show | a0003c0006a0003c0146a0003c0147others(9): Show | a0003c0006t0002a0003c0146t0002a0003c0147t0002others(9): Show | a0003c0006t0002g0083 a0003c0006t0002g0091 a0003c0006t0002g0101 others(12): Show |
15 | 242 | 0.0620 | -2 | c.-55 others(11): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 327 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178752043 | GAA | G | splice_region_variant others(1): Show |
LOW | HG01106.hp2 HG01168.hp1 HG01496.hp1 others(9): Show |
a0001a0005a0024others(4): Show | a0001c0002a0001c0015a0001c0069others(6): Show | a0001c0002t0001a0001c0015t0001a0001c0069t0001others(6): Show | a0001c0002t0001g0196 a0001c0015t0001g0142 a0001c0015t0001g0145 others(9): Show |
12 | 370 | 0.0324 | -2 | c.103 others(17): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 45/45 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178760848 | GGT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(140): Show |
a0001a0002a0003others(30): Show | a0001c0002a0001c0003a0001c0015others(41): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(47): Show | a0001c0002t0001g0008 a0001c0002t0001g0028 a0001c0002t0001g0149 others(115): Show |
143 | 370 | 0.3865 | -2 | c.101 others(23): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 43/45 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178769649 | GTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(364): Show |
a0001a0002a0003others(78): Show | a0001c0002a0001c0003a0001c0015others(97): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(111): Show | a0001c0002t0001g0008 a0001c0002t0001g0028 a0001c0002t0001g0149 others(302): Show |
367 | 370 | 0.9919 | -2 | c.890 others(17): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 37/45 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178781905 | AGT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(59): Show |
a0001a0009a0011others(10): Show | a0001c0002a0001c0076a0001c0077others(12): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(17): Show | a0001c0002t0001g0008 a0001c0002t0001g0028 a0001c0002t0001g0162 others(51): Show |
62 | 370 | 0.1676 | -2 | c.338 others(19): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 20/45 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178797380 | CAT | C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00642.hp1 others(41): Show |
a0001a0015a0026others(7): Show | a0001c0003a0001c0044a0001c0061others(9): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0021others(11): Show | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(30): Show |
44 | 370 | 0.1189 | -2 | c.914 others(19): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 6/45 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178807749 | GCC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00733.hp1 others(25): Show |
a0001a0004a0013others(3): Show | a0001c0002a0004c0006a0004c0011others(4): Show | a0001c0002t0001a0004c0006t0001a0004c0011t0001others(4): Show | a0001c0002t0001g0149 a0004c0006t0001g0021 a0004c0006t0001g0022 others(22): Show |
28 | 370 | 0.0757 | -2 | c.-55 others(11): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 327 | chr2 | TogoVar | |||||||
TTPAL_chr20_44470874_44499603 | 44479154 | CCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01099.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014a0001c0001t0019others(3): Show | a0001c0001t0007g0011 a0001c0001t0007g0023 a0001c0001t0007g0024 others(7): Show |
14 | 334 | 0.0419 | -2 | c.-15 others(17): Show |
TTPAL | ENSG00000124120.11 | transcript | ENST00000262605.9 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
TTPAL_chr20_44470874_44499603 | 44482399 | CCT | C | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG02056.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014a0001c0001t0017others(2): Show | a0001c0001t0011g0007 a0001c0001t0011g0042 a0001c0001t0014g0093 others(5): Show |
12 | 334 | 0.0359 | -2 | c.446 others(19): Show |
TTPAL | ENSG00000124120.11 | transcript | ENST00000262605.9 | protein_coding | 2/4 | chr20 | TogoVar | |||||||
TTPAL_chr20_44470874_44499603 | 44491075 | CAA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01099.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0012 | a0001c0001t0007a0001c0001t0015a0001c0001t0016others(2): Show | a0001c0001t0007g0011 a0001c0001t0007g0023 a0001c0001t0007g0024 others(6): Show |
15 | 334 | 0.0449 | -2 | c.*15 others(13): Show |
TTPAL | ENSG00000124120.11 | transcript | ENST00000262605.9 | protein_coding | 5/5 | 1557 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TTPAL_chr20_44470874_44499603 | 44491098 | AAT | A | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02015.hp1 HG02109.hp1 others(25): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0004a0001c0001t0025a0001c0001t0050others(3): Show | a0001c0001t0004g0003 a0001c0001t0004g0031 a0001c0001t0004g0032 others(9): Show |
28 | 334 | 0.0838 | -2 | c.*15 others(13): Show |
TTPAL | ENSG00000124120.11 | transcript | ENST00000262605.9 | protein_coding | 5/5 | 1558 | chr20 | TogoVar | ||||||
TTPAL_chr20_44470874_44499603 | 44492561 | ACT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(42): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0017 others(20): Show |
45 | 334 | 0.1347 | -2 | c.*30 others(13): Show |
TTPAL | ENSG00000124120.11 | transcript | ENST00000262605.9 | protein_coding | 5/5 | 3027 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TTPAL_chr20_44470874_44499603 | 44498164 | CAT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0023 | a0001c0001t0007g0011 a0001c0001t0007g0023 a0001c0001t0007g0024 others(3): Show |
9 | 334 | 0.0270 | -2 | c.*86 others(13): Show |
TTPAL | ENSG00000124120.11 | transcript | ENST00000262605.9 | protein_coding | 3562 | chr20 | TogoVar | |||||||
TTPA_chr8_63054488_63091053 | 63054925 | CAT | C | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 a0001c0002t0001g0183 |
5 | 432 | 0.0116 | -2 | c.*63 others(13): Show |
TTPA | ENSG00000137561.5 | transcript | ENST00000260116.5 | protein_coding | 4562 | chr8 | TogoVar | |||||||
TTPA_chr8_63054488_63091053 | 63056259 | CTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(98): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0050 others(31): Show |
101 | 432 | 0.2338 | -2 | c.*49 others(13): Show |
TTPA | ENSG00000137561.5 | transcript | ENST00000260116.5 | protein_coding | 3228 | chr8 | TogoVar | |||||||
TTPA_chr8_63054488_63091053 | 63059020 | GTT | G | downstream_gene_variant | MODIFIER | HG01167.hp2 HG02602.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0063 others(2): Show |
6 | 432 | 0.0139 | -2 | c.*22 others(13): Show |
TTPA | ENSG00000137561.5 | transcript | ENST00000260116.5 | protein_coding | 467 | chr8 | TogoVar | |||||||
TTPA_chr8_63054488_63091053 | 63075698 | CAA | C | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02055.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0061 a0001c0001t0001g0062 others(8): Show |
15 | 432 | 0.0347 | -2 | c.205 others(19): Show |
TTPA | ENSG00000137561.5 | transcript | ENST00000260116.5 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
TTPA_chr8_63054488_63091053 | 63080734 | AAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02717.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(3): Show | a0001c0001t0001g0086 a0001c0001t0002g0060 a0001c0001t0018g0064 others(5): Show |
11 | 432 | 0.0255 | -2 | c.204 others(19): Show |
TTPA | ENSG00000137561.5 | transcript | ENST00000260116.5 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
TTPA_chr8_63054488_63091053 | 63080741 | AAT | A | intron_variant | MODIFIER | HG01884.hp1 HG03195.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0086 |
3 | 432 | 0.0069 | -2 | c.204 others(19): Show |
TTPA | ENSG00000137561.5 | transcript | ENST00000260116.5 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
TTR_chr18_31586877_31603821 | 31590652 | GCA | G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(118): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(16): Show |
121 | 410 | 0.2951 | -2 | c.-12 others(13): Show |
TTR | ENSG00000118271.12 | transcript | ENST00000237014.8 | protein_coding | 1224 | chr18 | TogoVar | |||||||
TTR_chr18_31586877_31603821 | 31596673 | TAA | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(4): Show |
10 | 410 | 0.0244 | -2 | c.336 others(19): Show |
TTR | ENSG00000118271.12 | transcript | ENST00000237014.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54411296 | AAG | A | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(2): Show | a0001c0001t0001g0030 a0001c0002t0001g0028 a0001c0002t0001g0029 others(5): Show |
8 | 329 | 0.0243 | -2 | c.-42 others(13): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 4167 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54411390 | CAG | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02559.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0021a0001c0002t0001a0001c0002t0007others(2): Show | a0001c0001t0021g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 others(4): Show |
7 | 329 | 0.0213 | -2 | c.-41 others(13): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 4073 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54411415 | TGA | T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02056.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0210 a0001c0001t0001g0262 others(5): Show |
9 | 329 | 0.0274 | -2 | c.-41 others(13): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 4048 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54411497 | GGT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(56): Show |
59 | 329 | 0.1793 | -2 | c.-40 others(13): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 3966 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54413375 | GGT | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01070.hp1 HG01071.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0093 others(31): Show |
37 | 329 | 0.1125 | -2 | c.-21 others(13): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 2088 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54413417 | TGA | T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0274 a0001c0001t0001g0275 |
3 | 329 | 0.0091 | -2 | c.-21 others(13): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 2046 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54417365 | CAT | C | intron_variant | MODIFIER | HG02040.hp1 HG02080.hp2 HG02155.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0003g0286 others(6): Show |
9 | 329 | 0.0274 | -2 | c.126 others(19): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54417428 | CAT | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0004a0001c0002t0011others(1): Show | a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0004g0059 others(3): Show |
6 | 329 | 0.0182 | -2 | c.127 others(19): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54417537 | CAT | C | intron_variant | MODIFIER | HG02040.hp1 HG02080.hp2 HG02155.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0003g0286 others(3): Show |
6 | 329 | 0.0182 | -2 | c.127 others(19): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54417627 | TTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(193): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(181): Show |
196 | 329 | 0.5957 | -2 | c.127 others(19): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54417686 | TAC | T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 others(7): Show |
10 | 329 | 0.0304 | -2 | c.127 others(19): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54418007 | GAC | G | intron_variant | MODIFIER | HG03688.hp2 HG03927.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0006 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0004t0006g0155 |
3 | 329 | 0.0091 | -2 | c.127 others(19): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54423229 | ACT | A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00733.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0033 others(35): Show |
39 | 329 | 0.1185 | -2 | c.638 others(17): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54427250 | TCA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(35): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(284): Show |
312 | 329 | 0.9483 | -2 | c.734 others(17): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54428079 | GTT | G | intron_variant | MODIFIER | HG01070.hp1 HG01257.hp1 HG01952.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0006others(2): Show | a0001c0001t0001g0191 a0001c0002t0001g0028 a0001c0004t0006g0155 others(5): Show |
8 | 329 | 0.0243 | -2 | c.735 others(19): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54433559 | CAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(3): Show | a0001c0002t0001g0028 a0001c0002t0002g0038 a0001c0002t0002g0082 others(7): Show |
10 | 329 | 0.0304 | -2 | c.112 others(21): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54438200 | CGT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(4): Show | a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0046 others(28): Show |
31 | 329 | 0.0942 | -2 | c.*19 others(13): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1297 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54438560 | GAA | G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(30): Show |
a0001a0004a0005 | a0001c0002a0004c0011a0005c0008 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(5): Show | a0001c0002t0001g0029 a0001c0002t0001g0299 a0001c0002t0002g0023 others(28): Show |
33 | 329 | 0.1003 | -2 | c.*22 others(13): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1657 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54439125 | CTG | C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0017 | a0001c0002t0001a0002c0017t0001 | a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 others(6): Show |
9 | 329 | 0.0274 | -2 | c.*28 others(13): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 2222 | chr19 | TogoVar | |||||||
TTYH2_chr17_74208571_74267020 | 74209978 | CTT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(20): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0005others(3): Show | a0001c0001t0001a0001c0001t0017a0003c0003t0002others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0065 others(17): Show |
23 | 352 | 0.0653 | -2 | c.-36 others(13): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 3592 | chr17 | TogoVar | |||||||
TTYH2_chr17_74208571_74267020 | 74215170 | CGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0014a0003c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 others(105): Show |
121 | 352 | 0.3438 | -2 | c.129 others(19): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |