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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTL_chr2_112477156_112546739 | 112534323 | CAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0092a0001c0002t0008a0001c0002t0009others(13): Show | a0001c0001t0092g0199 a0001c0002t0008g0070 a0001c0002t0008g0072 others(24): Show |
27 | 346 | 0.0780 | -4 | c.*55 others(15): Show |
TTL | ENSG00000114999.8 | transcript | ENST00000233336.7 | protein_coding | 7/7 | 5547 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TTL_chr2_112477156_112546739 | 112535100 | AAGTT | A | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG03195.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0083 a0001c0002t0015g0084 a0001c0002t0015g0085 |
3 | 346 | 0.0087 | -4 | c.*63 others(15): Show |
TTL | ENSG00000114999.8 | transcript | ENST00000233336.7 | protein_coding | 7/7 | 6310 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TTL_chr2_112477156_112546739 | 112537077 | TTTTG | T | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02895.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0029a0001c0002t0128 | a0001c0002t0029g0187 a0001c0002t0029g0188 a0001c0002t0128g0040 |
3 | 346 | 0.0087 | -4 | c.*83 others(15): Show |
TTL | ENSG00000114999.8 | transcript | ENST00000233336.7 | protein_coding | 7/7 | 8303 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TTL_chr2_112477156_112546739 | 112546544 | CTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01358.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0068a0001c0002t0002others(12): Show | a0001c0001t0001g0191 a0001c0001t0068g0198 a0001c0002t0002g0189 others(20): Show |
23 | 346 | 0.0665 | -4 | c.*17 others(17): Show |
TTL | ENSG00000114999.8 | transcript | ENST00000233336.7 | protein_coding | 4806 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178523300 | TCTGA | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(58): Show |
a0001a0005a0014others(44): Show | a0001c0001a0001c0020a0001c0172others(50): Show | a0001c0001t0001a0001c0020t0001a0001c0172t0001others(50): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0035 others(57): Show |
61 | 242 | 0.2521 | -4 | c.*37 others(15): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 2688 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178556455 | CAAAA | C | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp2 HG03139.hp1 others(5): Show |
a0103a0106a0118others(5): Show | a0103c0182a0106c0106a0118c0201others(5): Show | a0103c0182t0001a0106c0106t0001a0118c0201t0001others(5): Show | a0103c0182t0001g0042 a0106c0106t0001g0145 a0118c0201t0001g0043 others(5): Show |
8 | 242 | 0.0331 | -4 | c.883 others(23): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 330/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178600410 | CATAT | C | intron_variant | MODIFIER | HG02738.hp2 HG03492.hp2 HG03710.hp1 others(1): Show |
a0099a0125a0132others(1): Show | a0099c0206a0125c0041a0132c0131others(1): Show | a0099c0206t0001a0125c0041t0002a0132c0131t0002others(1): Show | a0099c0206t0001g0139 a0125c0041t0002g0122 a0132c0131t0002g0214 others(1): Show |
4 | 242 | 0.0165 | -4 | c.560 others(23): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 288/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178617582 | CAATT | C | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01099.hp2 others(29): Show |
a0005a0013a0026others(25): Show | a0005c0004a0005c0116a0013c0208others(27): Show | a0005c0004t0001a0005c0116t0001a0013c0208t0001others(27): Show | a0005c0004t0001g0001 a0005c0004t0001g0228 a0005c0116t0001g0221 others(28): Show |
32 | 242 | 0.1322 | -4 | c.475 others(21): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 253/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178617620 | CTAAG | C | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp2 HG01496.hp2 others(7): Show |
a0001a0007a0053others(5): Show | a0001c0198a0007c0018a0007c0140others(6): Show | a0001c0198t0001a0007c0018t0002a0007c0140t0002others(6): Show | a0001c0198t0001g0015 a0007c0018t0002g0102 a0007c0018t0002g0105 others(7): Show |
10 | 242 | 0.0413 | -4 | c.475 others(23): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 253/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178637146 | GATAT | G | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01981.hp1 others(6): Show |
a0008a0009a0011others(6): Show | a0008c0002a0009c0092a0011c0014others(6): Show | a0008c0002t0002a0009c0092t0001a0011c0014t0001others(6): Show | a0008c0002t0002g0157 a0009c0092t0001g0184 a0011c0014t0001g0193 others(6): Show |
9 | 242 | 0.0372 | -4 | c.409 others(23): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 224/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178644815 | GTTAA | G | intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 NA18906.hp2 |
a0022a0109 | a0022c0017a0109c0115 | a0022c0017t0001a0109c0115t0001 | a0022c0017t0001g0140 a0022c0017t0001g0141 a0109c0115t0001g0142 |
3 | 242 | 0.0124 | -4 | c.404 others(23): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 217/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178646104 | TTATA | T | intron_variant | MODIFIER | HG00639.hp2 HG03453.hp2 |
a0007a0124 | a0007c0018a0124c0155 | a0007c0018t0002a0124c0155t0002 | a0007c0018t0002g0102 a0124c0155t0002g0092 |
2 | 242 | 0.0083 | -4 | c.402 others(21): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 216/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178690909 | CACAA | C | intron_variant | MODIFIER | HG00673.hp1 NA18612.hp2 NA18954.hp2 others(3): Show |
a0038a0144a0149others(3): Show | a0038c0162a0144c0161a0149c0057others(3): Show | a0038c0162t0002a0144c0161t0002a0149c0057t0002others(3): Show | a0038c0162t0002g0065 a0144c0161t0002g0024 a0149c0057t0002g0153 others(3): Show |
6 | 242 | 0.0248 | -4 | c.317 others(25): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 121/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178699383 | CTTTT | C | intron_variant | MODIFIER | HG01175.hp2 HG02738.hp1 HG02965.hp1 others(3): Show |
a0003a0010a0021others(3): Show | a0003c0145a0010c0013a0021c0007others(3): Show | a0003c0145t0002a0010c0013t0002a0021c0007t0002others(3): Show | a0003c0145t0002g0079 a0010c0013t0002g0207 a0021c0007t0002g0116 others(3): Show |
6 | 242 | 0.0248 | -4 | c.306 others(23): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 111/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178760848 | GGTGT | G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(50): Show |
a0002a0006a0008others(40): Show | a0002c0003a0002c0015a0006c0012others(42): Show | a0002c0003t0001a0002c0015t0001a0006c0012t0003others(42): Show | a0002c0003t0001g0168 a0002c0003t0001g0172 a0002c0003t0001g0173 others(50): Show |
53 | 242 | 0.2190 | -4 | c.101 others(25): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 43/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178781905 | AGTGT | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01255.hp1 others(22): Show |
a0010a0017a0020others(18): Show | a0010c0013a0010c0071a0017c0008others(19): Show | a0010c0013t0002a0010c0071t0002a0017c0008t0001others(19): Show | a0010c0013t0002g0206 a0010c0013t0002g0207 a0010c0071t0002g0204 others(22): Show |
25 | 242 | 0.1033 | -4 | c.338 others(21): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 20/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178787091 | AAAGT | A | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01257.hp2 others(21): Show |
a0002a0009a0011others(14): Show | a0002c0003a0002c0015a0009c0092others(17): Show | a0002c0003t0001a0002c0015t0001a0009c0092t0001others(17): Show | a0002c0003t0001g0168 a0002c0003t0001g0172 a0002c0003t0001g0173 others(21): Show |
24 | 242 | 0.0992 | -4 | c.207 others(21): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 13/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178803395 | CTGAG | C | intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG02895.hp1 others(5): Show |
a0017a0020a0095others(3): Show | a0017c0008a0020c0009a0095c0205others(3): Show | a0017c0008t0001a0020c0009t0001a0095c0205t0001others(3): Show | a0017c0008t0001g0106 a0017c0008t0001g0107 a0020c0009t0001g0236 others(5): Show |
8 | 242 | 0.0331 | -4 | c.92- others(19): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 2/362 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178760848 | GGTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp2 others(68): Show |
a0003a0004a0005others(17): Show | a0003c0004a0004c0006a0005c0005others(19): Show | a0003c0004t0001a0004c0006t0001a0005c0005t0003others(20): Show | a0003c0004t0001g0276 a0004c0006t0001g0132 a0005c0005t0003g0009 others(59): Show |
71 | 370 | 0.1919 | -4 | c.101 others(25): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 43/45 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178781905 | AGTGT | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01192.hp2 others(44): Show |
a0003a0008a0009others(6): Show | a0003c0004a0003c0041a0003c0047others(9): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0004others(11): Show | a0003c0004t0001g0004 a0003c0004t0001g0031 a0003c0004t0001g0032 others(33): Show |
47 | 370 | 0.1270 | -4 | c.338 others(21): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 20/45 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178787091 | AAAGT | A | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01257.hp1 others(21): Show |
a0006a0012a0024others(3): Show | a0006c0007a0006c0056a0012c0018others(5): Show | a0006c0007t0005a0006c0007t0015a0006c0056t0005others(6): Show | a0006c0007t0005g0003 a0006c0007t0005g0029 a0006c0007t0005g0240 others(15): Show |
24 | 370 | 0.0649 | -4 | c.207 others(21): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 13/45 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178803395 | CTGAG | C | intron_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02895.hp1 others(5): Show |
a0009a0057 | a0009c0013a0009c0022a0057c0096 | a0009c0013t0006a0009c0022t0006a0057c0096t0009 | a0009c0013t0006g0034 a0009c0013t0006g0303 a0009c0013t0006g0304 others(3): Show |
8 | 370 | 0.0216 | -4 | c.92- others(19): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 2/45 | chr2 | TogoVar | |||||||
TTPAL_chr20_44470874_44499603 | 44477631 | TTATC | T | intron_variant | MODIFIER | HG01257.hp2 HG02559.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0001g0094 a0001c0001t0005g0095 a0001c0001t0014g0093 others(3): Show |
7 | 334 | 0.0210 | -4 | c.-16 others(21): Show |
TTPAL | ENSG00000124120.11 | transcript | ENST00000262605.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTPA_chr8_63054488_63091053 | 63078114 | TAACA | T | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0061 a0001c0001t0001g0062 others(4): Show |
8 | 432 | 0.0185 | -4 | c.205 others(21): Show |
TTPA | ENSG00000137561.5 | transcript | ENST00000260116.5 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54411106 | AAGAG | A | 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 | -4 | c.-44 others(15): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 4357 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54411497 | GGTGT | G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00738.hp2 others(75): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 others(71): Show |
78 | 329 | 0.2371 | -4 | c.-40 others(15): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 3966 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54413375 | GGTGT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0033 others(21): Show |
25 | 329 | 0.0760 | -4 | c.-21 others(15): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 2088 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54413415 | TGTGA | T | upstream_gene_variant | MODIFIER | HG02818.hp2 HG02895.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0031 a0001c0002t0001g0224 a0001c0002t0008g0172 |
3 | 329 | 0.0091 | -4 | c.-21 others(15): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 2048 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54417407 | ACACT | A | intron_variant | MODIFIER | HG02074.hp2 HG02132.hp1 NA18747.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(7): Show |
10 | 329 | 0.0304 | -4 | c.127 others(21): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTYH1_chr19_54410464_54441904 | 54436120 | GTCTA | G | frameshift_variant others(1): Show |
HIGH | HG02074.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0271 | 1 | 329 | 0.0030 | -4 | c.134 others(13): Show |
p.Ile others(5): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 13/14 | 1437/2056 | 1348/1353 | 450/450 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
TTYH1_chr19_54410464_54441904 | 54438200 | CGTGT | C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01109.hp1 others(11): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(5): Show | a0001c0001t0001g0094 a0001c0001t0001g0134 a0001c0001t0001g0185 others(11): Show |
14 | 329 | 0.0426 | -4 | c.*19 others(15): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1297 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54438235 | GTGTA | G | downstream_gene_variant | MODIFIER | HG02922.hp2 HG02965.hp2 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0107 a0001c0002t0004g0151 a0001c0002t0004g0152 |
3 | 329 | 0.0091 | -4 | c.*19 others(15): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1332 | chr19 | TogoVar | |||||||
TTYH2_chr17_74208571_74267020 | 74212830 | CAATA | C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG03130.hp2 NA20129.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0086 a0001c0001t0001g0105 a0004c0006t0001g0104 |
3 | 352 | 0.0085 | -4 | c.-75 others(13): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 740 | chr17 | TogoVar | |||||||
TTYH2_chr17_74208571_74267020 | 74215170 | CGTGT | C | intron_variant | MODIFIER | HG01175.hp2 HG01515.hp1 HG01934.hp1 others(8): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0004others(1): Show | a0001c0001t0001a0003c0003t0002a0006c0004t0001others(1): Show | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(7): Show |
11 | 352 | 0.0313 | -4 | c.129 others(21): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74216527 | TCTCA | T | intron_variant | MODIFIER | HG01069.hp2 HG04228.hp1 NA20805.hp2 others(1): Show |
a0002a0007 | a0002c0002a0007c0012 | a0002c0002t0003a0007c0012t0001 | a0002c0002t0003g0008 a0007c0012t0001g0272 |
4 | 352 | 0.0114 | -4 | c.129 others(21): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74241262 | CGTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(62): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0005others(7): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(10): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0060 others(57): Show |
65 | 352 | 0.1847 | -4 | c.636 others(21): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74244855 | AGTGT | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG02135.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0003c0003t0009a0004c0006t0001 | a0001c0001t0001g0253 a0003c0003t0009g0084 a0004c0006t0001g0079 others(4): Show |
7 | 352 | 0.0199 | -4 | c.804 others(19): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74250243 | TCTCG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
a0001a0002a0003others(12): Show | a0001c0014a0002c0002a0002c0018others(13): Show | a0001c0014t0001a0001c0014t0010a0002c0002t0001others(24): Show | a0001c0014t0001g0095 a0001c0014t0001g0183 a0001c0014t0001g0306 others(121): Show |
137 | 352 | 0.3892 | -4 | c.102 others(19): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH3_chr7_2626986_2669802 | 2654478 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(101): Show |
114 | 402 | 0.2836 | -4 | c.102 others(23): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TTYH3_chr7_2626986_2669802 | 2666193 | GGGTT | G | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG01175.hp2 others(17): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0175 a0001c0001t0003g0184 a0001c0001t0003g0273 others(17): Show |
20 | 402 | 0.0498 | -4 | c.*44 others(15): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 1392 | chr7 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49191696 | CCTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01106.hp2 HG01346.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0001a0001c0004t0001a0001c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0027 others(6): Show |
13 | 362 | 0.0359 | -4 | c.-27 others(15): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 2617 | chr12 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49191711 | TTCTC | T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02055.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 others(5): Show |
14 | 362 | 0.0387 | -4 | c.-27 others(15): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 2632 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49136348 | CTGTG | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(174): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0001c0006others(4): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(5): Show | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 others(16): Show |
177 | 384 | 0.4609 | -4 | c.-50 others(15): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 4954 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49136378 | GTCTA | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 30 | 384 | 0.0781 | -4 | c.-50 others(15): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 4984 | chr12 | TogoVar | |||||||
TUBA1C_chr12_49260082_49279600 | 49270982 | AAAAC | A | intron_variant | MODIFIER | HG01261.hp2 HG02683.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0020a0001c0001t0028a0001c0009t0041 | a0001c0001t0020g0015 a0001c0001t0020g0047 a0001c0001t0028g0015 others(2): Show |
6 | 390 | 0.0154 | -4 | c.375 others(21): Show |
TUBA1C | ENSG00000167553.17 | transcript | ENST00000301072.11 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TUBA1C_chr12_49260082_49279600 | 49279338 | CTTCT | C | downstream_gene_variant | MODIFIER | HG02735.hp1 HG02818.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0011a0001c0005t0006 | a0001c0001t0004g0002 a0001c0001t0011g0072 a0001c0005t0006g0001 |
3 | 390 | 0.0077 | -4 | c.*61 others(15): Show |
TUBA1C | ENSG00000167553.17 | transcript | ENST00000301072.11 | protein_coding | 4739 | chr12 | TogoVar | |||||||
TUBA1C_chr12_49260082_49279600 | 49279361 | CTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0006 a0001c0001t0004g0055 a0001c0001t0004g0059 others(20): Show |
31 | 390 | 0.0795 | -4 | c.*61 others(15): Show |
TUBA1C | ENSG00000167553.17 | transcript | ENST00000301072.11 | protein_coding | 4762 | chr12 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19172308 | TCCTG | T | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01515.hp2 HG01517.hp1 others(6): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0025 a0003c0004t0002g0097 a0003c0004t0002g0104 others(4): Show |
9 | 448 | 0.0201 | -4 | c.*15 others(15): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 1463 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19186447 | TCTTC | T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02451.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0012t0001g0099 |
3 | 448 | 0.0067 | -4 | c.-47 others(15): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4624 | chr13 | TogoVar | |||||||
TUBA3D_chr2_131471119_131487934 | 131479838 | TCAAA | T | intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0011 a0001c0003t0003g0027 a0001c0003t0003g0028 others(1): Show |
7 | 392 | 0.0179 | -4 | c.376 others(19): Show |
TUBA3D | ENSG00000075886.11 | transcript | ENST00000321253.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |