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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TPST1_chr7_66200334_66365443 | 66269610 | C | CTG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(202): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(202): Show |
205 | 346 | 0.5925 | 2 | c.846 others(21): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66278100 | C | CAA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01261.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0034 others(29): Show |
32 | 346 | 0.0925 | 2 | c.846 others(19): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66291638 | A | AGT | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02572.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0245 others(9): Show |
12 | 346 | 0.0347 | 2 | c.104 others(21): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66296676 | G | GTT | intron_variant | MODIFIER | HG00642.hp2 HG01257.hp1 HG01358.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0110 others(23): Show |
26 | 346 | 0.0751 | 2 | c.104 others(21): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66299299 | G | GTT | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0133 a0001c0001t0001g0151 others(6): Show |
9 | 346 | 0.0260 | 2 | c.104 others(23): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66311138 | T | TTG | intron_variant | MODIFIER | HG00544.hp2 HG02015.hp1 NA18951.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0075 a0001c0001t0001g0076 others(7): Show |
10 | 346 | 0.0289 | 2 | c.104 others(23): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66324800 | C | CAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 a0001c0001t0001g0260 a0001c0001t0001g0261 others(20): Show |
23 | 346 | 0.0665 | 2 | c.104 others(23): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66327740 | C | CGT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(143): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(143): Show |
146 | 346 | 0.4220 | 2 | c.104 others(23): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328011 | C | CTT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0101 a0001c0001t0001g0172 a0001c0001t0001g0173 others(40): Show |
43 | 346 | 0.1243 | 2 | c.104 others(23): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328859 | G | GCT | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 a0001c0001t0001g0256 a0001c0001t0001g0258 others(1): Show |
4 | 346 | 0.0116 | 2 | c.104 others(23): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66337299 | A | ATT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0065 others(44): Show |
47 | 346 | 0.1358 | 2 | c.104 others(23): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66339833 | T | TAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(45): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0054 others(45): Show |
48 | 346 | 0.1387 | 2 | c.104 others(23): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66347059 | C | CTT | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01074.hp2 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0069 others(20): Show |
23 | 346 | 0.0665 | 2 | c.104 others(21): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66354522 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01261.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0078 a0001c0001t0002g0015 others(15): Show |
18 | 346 | 0.0520 | 2 | c.109 others(21): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66362669 | C | CAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0002g0009 a0001c0001t0002g0015 others(36): Show |
39 | 346 | 0.1127 | 2 | c.*28 others(13): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 2227 | chr7 | TogoVar | |||||||
TPST1_chr7_66200334_66365443 | 66365287 | C | CAA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01257.hp1 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 others(20): Show |
23 | 346 | 0.0665 | 2 | c.*54 others(13): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 4845 | chr7 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26517169 | T | TTA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(163): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 others(161): Show |
166 | 400 | 0.4150 | 2 | c.*91 others(13): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 4826 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26517996 | C | CTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(119): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0058 others(118): Show |
122 | 400 | 0.3050 | 2 | c.*82 others(13): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 3999 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26519016 | C | CAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00639.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(7): Show | a0001c0001t0005g0144 a0001c0001t0005g0283 a0001c0001t0005g0333 others(25): Show |
28 | 400 | 0.0700 | 2 | c.*72 others(13): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 2979 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26529001 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(94): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0016 others(92): Show |
97 | 400 | 0.2425 | 2 | c.109 others(19): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26537055 | C | CAA | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp2 HG02129.hp2 others(17): Show |
a0001a0002 | a0001c0004a0002c0011 | a0001c0004t0001a0001c0004t0004a0001c0004t0006others(4): Show | a0001c0004t0001g0043 a0001c0004t0001g0049 a0001c0004t0001g0076 others(17): Show |
20 | 400 | 0.0500 | 2 | c.843 others(17): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 3/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26542240 | T | TAA | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01169.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0128 a0001c0001t0002g0192 a0001c0001t0004g0008 others(12): Show |
16 | 400 | 0.0400 | 2 | c.-88 others(17): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26549867 | T | TAA | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG01978.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0002a0002c0002t0015 | a0001c0001t0001g0109 a0001c0001t0001g0231 a0001c0001t0001g0245 others(3): Show |
6 | 400 | 0.0150 | 2 | c.-16 others(21): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26550039 | C | CAA | intron_variant | MODIFIER | HG00597.hp1 NA18956.hp2 NA18967.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0088 a0001c0001t0006g0003 a0001c0001t0006g0038 others(14): Show |
18 | 400 | 0.0450 | 2 | c.-16 others(21): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26550050 | A | AAC | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(110): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0079 others(106): Show |
113 | 400 | 0.2825 | 2 | c.-16 others(21): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26551883 | C | CTT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00733.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0006t0001a0001c0006t0005others(1): Show | a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0002g0327 others(10): Show |
14 | 400 | 0.0350 | 2 | c.-16 others(21): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26553060 | C | CAA | intron_variant | MODIFIER | HG02109.hp2 HG02970.hp1 HG03654.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(2): Show | a0001c0001t0004g0089 a0001c0001t0006g0072 a0001c0001t0006g0085 others(4): Show |
7 | 400 | 0.0175 | 2 | c.-16 others(21): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26558073 | T | TTA | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0037a0001c0005t0008others(1): Show | a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0263 others(3): Show |
6 | 400 | 0.0150 | 2 | c.-16 others(23): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26558241 | T | TGC | intron_variant | MODIFIER | HG00438.hp1 HG01074.hp2 HG01175.hp2 others(16): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0233 a0001c0001t0003g0002 a0001c0001t0003g0037 others(15): Show |
19 | 400 | 0.0475 | 2 | c.-16 others(23): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26562629 | C | CTT | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0017a0001c0005t0008others(1): Show | a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0263 others(3): Show |
6 | 400 | 0.0150 | 2 | c.-16 others(23): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26569991 | A | AAG | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01257.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0091 a0001c0001t0002g0153 a0001c0001t0002g0342 others(16): Show |
19 | 400 | 0.0475 | 2 | c.-16 others(23): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26577095 | C | CAA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00673.hp1 others(44): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0002g0192 others(43): Show |
47 | 400 | 0.1175 | 2 | c.-16 others(23): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26577649 | A | ATT | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0004g0067 a0001c0001t0008g0110 a0001c0001t0010g0004 others(2): Show |
6 | 400 | 0.0150 | 2 | c.-16 others(23): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26581019 | T | TAC | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01167.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0016a0002c0002 | a0001c0001t0003a0001c0001t0007a0001c0016t0007others(1): Show | a0001c0001t0003g0165 a0001c0001t0007g0120 a0001c0001t0007g0166 others(3): Show |
6 | 400 | 0.0150 | 2 | c.-16 others(21): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26591466 | C | CAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00609.hp2 others(105): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0061 others(104): Show |
108 | 400 | 0.2700 | 2 | c.-15 others(13): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1335 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26591890 | T | TAC | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01070.hp1 HG01255.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0050 a0001c0001t0001g0273 a0001c0001t0002g0355 others(16): Show |
19 | 400 | 0.0475 | 2 | c.-20 others(13): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1759 | chr22 | TogoVar | |||||||
TPT1_chr13_45328471_45346183 | 45329104 | G | GAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0038 | a0001c0001t0005g0006 a0001c0001t0006g0010 a0001c0001t0006g0013 others(2): Show |
17 | 368 | 0.0462 | 2 | c.*82 others(13): Show |
TPT1 | ENSG00000133112.17 | transcript | ENST00000530705.6 | protein_coding | 4366 | chr13 | TogoVar | |||||||
TPT1_chr13_45328471_45346183 | 45332229 | C | CAA | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01978.hp1 HG01981.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0004g0005 others(3): Show |
11 | 368 | 0.0299 | 2 | c.*51 others(13): Show |
TPT1 | ENSG00000133112.17 | transcript | ENST00000530705.6 | protein_coding | 1241 | chr13 | TogoVar | |||||||
TPT1_chr13_45328471_45346183 | 45342208 | T | TAC | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01496.hp2 HG01993.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 others(5): Show |
8 | 368 | 0.0217 | 2 | c.-11 others(13): Show |
TPT1 | ENSG00000133112.17 | transcript | ENST00000530705.6 | protein_coding | 1026 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19420915 | C | CCT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(211): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0012others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(211): Show |
214 | 222 | 0.9640 | 2 | c.*21 others(13): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 1961 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19425922 | A | ACT | intron_variant | MODIFIER | HG02602.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0203 a0001c0001t0002g0025 |
2 | 222 | 0.0090 | 2 | c.139 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 21/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19427079 | C | CTT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00673.hp1 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0002g0017 others(35): Show |
38 | 222 | 0.1712 | 2 | c.130 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 20/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19435755 | G | GAC | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(33): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0137 others(33): Show |
36 | 222 | 0.1622 | 2 | c.111 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 18/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19437038 | G | GAC | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01515.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0013 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0127 a0001c0001t0002g0006 a0001c0001t0002g0007 others(2): Show |
5 | 222 | 0.0225 | 2 | c.103 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 17/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19443397 | C | CTT | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0014t0002others(1): Show | a0001c0001t0001g0119 a0001c0001t0002g0044 a0001c0014t0002g0072 others(3): Show |
6 | 222 | 0.0270 | 2 | c.974 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 16/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19443737 | T | TAC | intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(3): Show |
6 | 222 | 0.0270 | 2 | c.974 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 16/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19443779 | C | CAG | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00673.hp1 others(28): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0142 a0001c0001t0002g0008 a0001c0001t0002g0031 others(28): Show |
31 | 222 | 0.1396 | 2 | c.974 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 16/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19451808 | A | AGT | intron_variant | MODIFIER | HG00642.hp2 HG01515.hp2 HG02148.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 others(2): Show |
5 | 222 | 0.0225 | 2 | c.742 others(17): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 13/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19451841 | G | GTA | intron_variant | MODIFIER | HG02717.hp1 NA18522.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0066 a0002c0002t0002g0062 |
2 | 222 | 0.0090 | 2 | c.742 others(17): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 13/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19451843 | G | GTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(66): Show |
a0001a0007 | a0001c0001a0001c0012a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(1): Show | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 others(66): Show |
69 | 222 | 0.3108 | 2 | c.742 others(17): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 13/22 | chr13 | TogoVar |