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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNED1_chr2_240993618_241100568 | 241093462 | TTGTGTCA others(77): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(124): Show |
a0002a0003a0004others(13): Show | a0002c0003a0002c0007a0002c0009others(47): Show | a0002c0003t0006a0002c0003t0007a0002c0003t0008others(72): Show | a0002c0003t0006g0275 a0002c0003t0007g0131 a0002c0003t0007g0284 others(124): Show |
127 | 344 | 0.3692 | -84 | c.*18 others(95): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 32/32 | 5063 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SOGA1_chr20_36772447_36868538 | 36858393 | AACACACA others(77): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02738.hp2 HG03130.hp2 others(4): Show |
a0001a0015 | a0001c0001a0001c0007a0001c0013others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0002others(3): Show | a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0007t0001g0279 others(4): Show |
7 | 282 | 0.0248 | -84 | c.687 others(101): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7255875 | CGGGGCTG others(77): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(74): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(68): Show | a0001c0001t0003g0048 a0001c0001t0004g0138 a0001c0001t0006g0055 others(74): Show |
77 | 168 | 0.4583 | -84 | c.480 others(103): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23837671 | ATATATTT others(77): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 212 | 0.0047 | -84 | c.481 others(101): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51077001 | TCTAGCTA others(77): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0059 | 1 | 292 | 0.0034 | -84 | c.424 others(101): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52051821 | CGCCCTCC others(77): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019a0001c0001t0020others(1): Show | a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0019g0218 others(2): Show |
5 | 308 | 0.0162 | -84 | c.87+ others(96): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPDYE16_chr7_76526313_76548297 | 76541943 | TAAGAGTG others(77): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02897.hp2 others(3): Show |
a0002a0006 | a0002c0002a0002c0004a0006c0008 | a0002c0002t0003a0002c0002t0017a0002c0002t0021others(2): Show | a0002c0002t0003g0085 a0002c0002t0017g0046 a0002c0002t0021g0047 others(3): Show |
6 | 255 | 0.0235 | -84 | c.-42 others(100): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65342188 | ATATACGT others(77): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00673.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0077 a0001c0001t0003g0171 a0001c0001t0003g0179 others(31): Show |
34 | 276 | 0.1232 | -84 | c.204 others(101): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49917451 | TTTCTTTC others(77): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 380 | 0.0026 | -84 | c.494 others(101): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45587005 | ATTTTAAA others(77): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0177 | 1 | 358 | 0.0028 | -84 | c.649 others(101): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121239198 | ATATATAT others(77): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040 | a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0245 others(1): Show |
4 | 274 | 0.0146 | -84 | c.68- others(101): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRP14_chr15_40030690_40044181 | 40037615 | CCTTAGGT others(77): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01074.hp1 others(56): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0003others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0032 others(17): Show |
59 | 426 | 0.1385 | -84 | c.210 others(99): Show |
SRP14 | ENSG00000140319.11 | transcript | ENST00000267884.11 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
SRP14_chr15_40030690_40044181 | 40037620 | GGTTTTTG others(77): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(158): Show |
a0001a0005a0006others(1): Show | a0001c0002a0001c0007a0005c0010others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(6): Show | a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0010 others(20): Show |
161 | 426 | 0.3779 | -84 | c.210 others(99): Show |
SRP14 | ENSG00000140319.11 | transcript | ENST00000267884.11 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29895746 | AATGTATT others(77): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02922.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0127 a0001c0003t0006g0129 |
2 | 232 | 0.0086 | -84 | c.63+ others(101): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
ST3GAL3_chr1_43702536_43936159 | 43911562 | CATATCTG others(77): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0060 | 1 | 274 | 0.0037 | -84 | c.745 others(101): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STK26_chrX_132018302_132080943 | 132044708 | GATCTATA others(77): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 244 | 0.0041 | -84 | c.43- others(99): Show |
STK26 | ENSG00000134602.16 | transcript | ENST00000394334.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
STK32C_chr10_132202492_132312950 | 132284945 | CCCAAAGA others(77): Show |
C | intron_variant | MODIFIER | HG02135.hp2 NA18939.hp2 NA18961.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0174 a0001c0001t0001g0225 a0001c0001t0001g0256 others(4): Show |
7 | 368 | 0.0190 | -84 | c.262 others(103): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
STKLD1_chr9_133371366_133411096 | 133392731 | ATGGATGG others(77): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0153 |
2 | 356 | 0.0056 | -84 | c.584 others(101): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48564474 | TTCTTCTT others(77): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0325 | 1 | 376 | 0.0027 | -84 | c.-47 others(103): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48564518 | TCTTCTTC others(77): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0217 | 1 | 376 | 0.0027 | -84 | c.-47 others(103): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48564524 | TCTTCTTC others(77): Show |
T | intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0115 | 1 | 376 | 0.0027 | -84 | c.-47 others(103): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STOX2_chr4_183900307_184028526 | 183932303 | GTGTATAC others(77): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 318 | 0.0031 | -84 | c.166 others(103): Show |
STOX2 | ENSG00000173320.12 | transcript | ENST00000308497.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
STRN_chr2_36832698_36971536 | 36897517 | GCTCTGCC others(77): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0260 | 1 | 302 | 0.0033 | -84 | c.795 others(101): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 6/17 | chr2 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130843348 | ATTACATA others(77): Show |
A | upstream_gene_variant | MODIFIER | HG02148.hp2 HG03491.hp1 NA20805.hp1 |
a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0026 a0001c0004t0015g0027 a0001c0004t0015g0028 |
3 | 380 | 0.0079 | -84 | c.-43 others(95): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4099 | chr12 | TogoVar | |||||||
SULT4A1_chr22_43819509_43867513 | 43834474 | CCACCGCG others(77): Show |
C | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 386 | 0.0026 | -84 | c.509 others(99): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
SULT4A1_chr22_43819509_43867513 | 43835006 | ACACCGCG others(77): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(83): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0014 others(57): Show |
86 | 386 | 0.2228 | -84 | c.509 others(101): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
SULT4A1_chr22_43819509_43867513 | 43836514 | CCTACACA others(77): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(92): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0014 others(63): Show |
95 | 386 | 0.2461 | -84 | c.508 others(101): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
SYT15B_chr10_47739717_47768592 | 47743273 | TATATACA others(77): Show |
T | downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0050 | 1 | 340 | 0.0029 | -84 | c.*10 others(97): Show |
SYT15B | ENSG00000277758.6 | transcript | ENST00000615923.4 | protein_coding | 1443 | chr10 | TogoVar | |||||||
TACC3_chr4_1716521_1750171 | 1720930 | GCCGCCGC others(77): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01081.hp1 others(33): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0006a0003c0004others(3): Show | a0001c0002t0003a0001c0006t0004a0003c0004t0003others(3): Show | a0001c0002t0003g0048 a0001c0006t0004g0021 a0001c0006t0004g0065 others(25): Show |
36 | 344 | 0.1047 | -84 | c.-71 others(93): Show |
TACC3 | ENSG00000013810.21 | transcript | ENST00000313288.9 | protein_coding | 590 | chr4 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61978179 | AACCAAGG others(77): Show |
A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 314 | 0.0032 | -84 | c.309 others(103): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48679359 | CGTCCATC others(77): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 258 | 0.0039 | -84 | c.263 others(103): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46941424 | CACGGAAT others(77): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0004 | 1 | 112 | 0.0089 | -84 | c.101 others(105): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89879457 | ACACAGAT others(77): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02698.hp1 |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0001a0007c0014t0001 | a0001c0001t0001g0291 a0007c0014t0001g0056 |
2 | 300 | 0.0067 | -84 | c.193 others(101): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89879810 | GGCCTGTC others(77): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG02257.hp1 others(13): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 a0002c0003t0001g0275 a0002c0003t0001g0276 others(12): Show |
16 | 300 | 0.0533 | -84 | c.193 others(101): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCHH_chr1_152101317_152120444 | 152111880 | CGCTGCTC others(77): Show |
C | disruptive_inframe_deletion | MODERATE | NA18943.hp1 | a0088 | a0088c0142 | a0088c0142t0001 | a0088c0142t0001g0161 | 1 | 402 | 0.0025 | -84 | c.125 others(93): Show |
p.Gln others(13): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 1421/6985 | 1253/5832 | 418/1943 | chr1 | TogoVar | |||
TEAD3_chr6_35468597_35502079 | 35501540 | AGTGGCTC others(77): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp1 HG03209.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011 | a0001c0001t0001g0272 a0001c0001t0006g0045 a0001c0001t0006g0271 others(1): Show |
6 | 396 | 0.0152 | -84 | c.-47 others(95): Show |
TEAD3 | ENSG00000007866.22 | transcript | ENST00000338863.13 | protein_coding | 4462 | WARNING_TRANSCRIPT_NO_START_CODON | chr6 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273436 | CCACACAT others(77): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 392 | 0.0026 | -84 | c.228 others(103): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1290132 | GCCGCGCC others(77): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 392 | 0.0026 | -84 | c.157 others(103): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1290598 | CGCCTCAC others(77): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0108 | 1 | 392 | 0.0026 | -84 | c.157 others(103): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1290850 | CGCCTCAC others(77): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0195 | 1 | 392 | 0.0026 | -84 | c.157 others(103): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TFB1M_chr6_155251134_155319484 | 155305225 | TATATATA others(77): Show |
T | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0183 | 1 | 348 | 0.0029 | -84 | c.285 others(101): Show |
TFB1M | ENSG00000029639.11 | transcript | ENST00000367166.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
TFDP1_chr13_113579753_113646473 | 113583797 | GCACACAC others(77): Show |
G | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 348 | 0.0029 | -84 | c.-11 others(95): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 955 | chr13 | TogoVar | |||||||
TFDP1_chr13_113579753_113646473 | 113583927 | TAGTGCAC others(77): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0008 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(15): Show |
20 | 348 | 0.0575 | -84 | c.-10 others(94): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 825 | chr13 | TogoVar | |||||||
TFDP1_chr13_113579753_113646473 | 113626030 | TCTCTCAC others(77): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0030 | 1 | 348 | 0.0029 | -84 | c.186 others(101): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 4/11 | chr13 | TogoVar | |||||||
TFDP2_chr3_141939428_142154544 | 141969126 | ATAACATA others(77): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01069.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0022a0001c0001t0040others(11): Show | a0001c0001t0014g0014 a0001c0001t0014g0020 a0001c0001t0014g0021 others(14): Show |
17 | 252 | 0.0675 | -84 | c.732 others(99): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 9/12 | chr3 | TogoVar | |||||||
THEMIS_chr6_127703200_127906058 | 127905954 | ATTACATT others(77): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02630.hp2 HG02895.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0001 | a0001c0002t0003g0185 a0002c0001t0001g0182 a0002c0001t0001g0183 others(1): Show |
4 | 223 | 0.0179 | -84 | c.-51 others(95): Show |
THEMIS | ENSG00000172673.12 | transcript | ENST00000368248.5 | protein_coding | 4897 | chr6 | TogoVar | |||||||
THOP1_chr19_2780503_2820807 | 2805882 | CGGGCGGG others(77): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01891.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0002g0220 a0001c0001t0003g0023 a0001c0001t0003g0025 others(9): Show |
15 | 370 | 0.0405 | -84 | c.750 others(99): Show |
THOP1 | ENSG00000172009.15 | transcript | ENST00000307741.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TINCR_chr19_5553167_5572953 | 5571643 | CTAAAAAT others(77): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0001 a0001c0001t0016g0061 |
2 | 398 | 0.0050 | -84 | c.-38 others(95): Show |
TINCR | ENSG00000223573.7 | transcript | ENST00000448587.6 | protein_coding | 3691 | chr19 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115614 | GAGGAGCG others(77): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0004 | a0004c0006 | a0004c0006t0007 | a0004c0006t0007g0039 | 1 | 444 | 0.0023 | -84 | c.227 others(103): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115618 | AGCGAAGG others(77): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02071.hp2 HG03130.hp2 others(4): Show |
a0001a0004a0016others(1): Show | a0001c0001a0001c0017a0004c0012others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0263 a0001c0001t0004g0261 a0001c0001t0005g0297 others(4): Show |
7 | 444 | 0.0158 | -84 | c.227 others(103): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar |