view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM50B_chr21_33444141_33484974 | 33446653 | C | CAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0016others(52): Show | 73 | 379 | 0.1926 | 2 | c.*41 others(13): Show |
TMEM50B | ENSG00000142188.17 | transcript | ENST00000542230.7 | protein_coding | 2487 | chr21 | TogoVar | |||||||
TMEM50B_chr21_33444141_33484974 | 33446655 | C | CAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01071.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0019others(34): Show | 41 | 379 | 0.1082 | 2 | c.*41 others(13): Show |
TMEM50B | ENSG00000142188.17 | transcript | ENST00000542230.7 | protein_coding | 2485 | chr21 | TogoVar | |||||||
TMEM50B_chr21_33444141_33484974 | 33447681 | T | TAC | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG02109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0042a0001c0001t0001g0147others(9): Show | 14 | 379 | 0.0369 | 2 | c.*31 others(13): Show |
TMEM50B | ENSG00000142188.17 | transcript | ENST00000542230.7 | protein_coding | 1459 | chr21 | TogoVar | |||||||
TMEM50B_chr21_33444141_33484974 | 33450186 | C | CAG | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(249): Show | 324 | 379 | 0.8549 | 2 | c.*63 others(11): Show |
TMEM50B | ENSG00000142188.17 | transcript | ENST00000542230.7 | protein_coding | 7/7 | 631 | chr21 | TogoVar | ||||||
TMEM50B_chr21_33444141_33484974 | 33451844 | C | CAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(202): Show | 270 | 379 | 0.7124 | 2 | c.432 others(17): Show |
TMEM50B | ENSG00000142188.17 | transcript | ENST00000542230.7 | protein_coding | 6/6 | chr21 | TogoVar | |||||||
TMEM50B_chr21_33444141_33484974 | 33454102 | C | CAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(72): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0039a0001c0001t0001g0147a0001c0001t0001g0163others(48): Show | 75 | 379 | 0.1979 | 2 | c.431 others(19): Show |
TMEM50B | ENSG00000142188.17 | transcript | ENST00000542230.7 | protein_coding | 6/6 | chr21 | TogoVar | |||||||
TMEM50B_chr21_33444141_33484974 | 33459667 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0178a0001c0001t0001g0182a0001c0001t0001g0191others(27): Show | 42 | 379 | 0.1108 | 2 | c.373 others(17): Show |
TMEM50B | ENSG00000142188.17 | transcript | ENST00000542230.7 | protein_coding | 5/6 | chr21 | TogoVar | |||||||
TMEM50B_chr21_33444141_33484974 | 33474803 | T | TAA | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00733.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0016a0001c0001t0001g0162a0001c0001t0001g0163others(6): Show | 11 | 379 | 0.0290 | 2 | c.-42 others(19): Show |
TMEM50B | ENSG00000142188.17 | transcript | ENST00000542230.7 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
TMEM50B_chr21_33444141_33484974 | 33476760 | C | CAA | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp1 HG01884.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0028a0001c0001t0001g0046others(24): Show | 30 | 379 | 0.0792 | 2 | c.-42 others(19): Show |
TMEM50B | ENSG00000142188.17 | transcript | ENST00000542230.7 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
TMEM50B_chr21_33444141_33484974 | 33483644 | C | CAA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0001g0042others(2): Show | 7 | 379 | 0.0185 | 2 | c.-38 others(13): Show |
TMEM50B | ENSG00000142188.17 | transcript | ENST00000542230.7 | protein_coding | 3671 | chr21 | TogoVar | |||||||
TMEM51_chr1_15148747_15225478 | 15161511 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0155a0001c0001t0001g0170a0001c0001t0001g0185others(41): Show | 44 | 298 | 0.1477 | 2 | c.-26 others(21): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15164790 | C | CTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00735.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0002t0003others(2): Show | a0001c0001t0001g0243a0001c0001t0001g0244a0001c0001t0001g0245others(7): Show | 10 | 298 | 0.0336 | 2 | c.-26 others(23): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15165919 | C | CAG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(95): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0070others(93): Show | 98 | 298 | 0.3289 | 2 | c.-26 others(23): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15189213 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG02572.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0011 | a0001c0001t0001a0001c0001t0004a0001c0002t0008others(1): Show | a0001c0001t0001g0185a0001c0001t0004g0095a0001c0001t0004g0106others(3): Show | 6 | 298 | 0.0201 | 2 | c.-26 others(23): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15192449 | T | TTC | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02486.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0013others(3): Show | a0001c0001t0004g0183a0001c0001t0006g0114a0001c0001t0006g0148others(10): Show | 13 | 298 | 0.0436 | 2 | c.-26 others(23): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
TMEM51_chr1_15148747_15225478 | 15193571 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(3): Show | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0009g0006others(16): Show | 19 | 298 | 0.0638 | 2 | c.-26 others(23): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15194917 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0185others(17): Show | 20 | 298 | 0.0671 | 2 | c.-26 others(23): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15197954 | C | CAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0001g0288a0001c0001t0004g0183a0001c0001t0013g0180others(16): Show | 19 | 298 | 0.0638 | 2 | c.-26 others(23): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15200407 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00639.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0024others(6): Show | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0201others(27): Show | 30 | 298 | 0.1007 | 2 | c.-26 others(23): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15203429 | A | ATT | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02280.hp1 others(14): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0143a0001c0001t0001g0188a0001c0001t0004g0183others(14): Show | 17 | 298 | 0.0571 | 2 | c.-26 others(21): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15206394 | A | ACT | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0014a0001c0001t0034a0001c0002t0003others(1): Show | a0001c0001t0014g0032a0001c0001t0014g0034a0001c0001t0014g0035others(3): Show | 6 | 298 | 0.0201 | 2 | c.-26 others(21): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15214006 | C | CTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0016others(9): Show | a0001c0001t0001g0293a0001c0001t0009g0012a0001c0001t0016g0058others(26): Show | 29 | 298 | 0.0973 | 2 | c.-19 others(19): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM51_chr1_15148747_15225478 | 15216031 | C | CAA | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00609.hp2 others(46): Show |
a0001a0006 | a0001c0003a0006c0008 | a0001c0003t0002a0001c0003t0007a0001c0003t0019others(8): Show | a0001c0003t0002g0071a0001c0003t0002g0076a0001c0003t0002g0077others(46): Show | 49 | 298 | 0.1644 | 2 | c.344 others(17): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM52B_chr12_10174032_10196804 | 10177815 | T | TAA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0013others(34): Show | 49 | 430 | 0.1140 | 2 | c.-17 others(13): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 1216 | chr12 | TogoVar | |||||||
TMEM52B_chr12_10174032_10196804 | 10178643 | A | AAG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(178): Show |
a0001a0002a0006 | a0001c0001a0001c0009a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0012others(134): Show | 181 | 430 | 0.4209 | 2 | c.-93 others(11): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 388 | chr12 | TogoVar | |||||||
TMEM52B_chr12_10174032_10196804 | 10180275 | G | GTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0042a0001c0001t0001g0071a0001c0001t0001g0214others(47): Show | 89 | 430 | 0.2070 | 2 | c.54+ others(15): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM52B_chr12_10174032_10196804 | 10180277 | T | TTG | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01884.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170others(14): Show | 17 | 430 | 0.0395 | 2 | c.54+ others(15): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM52B_chr12_10174032_10196804 | 10183660 | A | ATT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00738.hp1 others(22): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0005g0011a0001c0001t0005g0054a0001c0001t0005g0055others(17): Show | 25 | 430 | 0.0581 | 2 | c.98+ others(17): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM52B_chr12_10174032_10196804 | 10184838 | A | ATT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG01123.hp2 others(62): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0049a0001c0001t0002g0225others(37): Show | 65 | 430 | 0.1512 | 2 | c.99- others(15): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM52B_chr12_10174032_10196804 | 10187099 | G | GTT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(147): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0019others(79): Show | 150 | 430 | 0.3488 | 2 | c.307 others(17): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM52B_chr12_10174032_10196804 | 10188539 | A | AGG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0021 | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0021others(24): Show | 35 | 430 | 0.0814 | 2 | c.308 others(19): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
TMEM52B_chr12_10174032_10196804 | 10189016 | C | CAA | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00642.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0020others(28): Show | 42 | 430 | 0.0977 | 2 | c.308 others(17): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM52B_chr12_10174032_10196804 | 10194085 | A | ATT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0013others(41): Show | 54 | 430 | 0.1256 | 2 | c.*39 others(13): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 2282 | chr12 | TogoVar | |||||||
TMEM52B_chr12_10174032_10196804 | 10196604 | A | ACT | downstream_gene_variant | MODIFIER | HG02922.hp1 HG03098.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0165others(1): Show | 4 | 430 | 0.0093 | 2 | c.*64 others(13): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 4801 | chr12 | TogoVar | |||||||
TMEM52B_chr12_10174032_10196804 | 10196605 | T | TTG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(246): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(169): Show | 249 | 430 | 0.5791 | 2 | c.*64 others(13): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 4802 | chr12 | TogoVar | |||||||
TMEM52_chr1_1912591_1924279 | 1912920 | C | CAA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(13): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0011 | a0001c0001t0001a0002c0002t0001a0007c0011t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0002c0002t0001g0002others(1): Show | 16 | 364 | 0.0440 | 2 | c.*49 others(13): Show |
TMEM52 | ENSG00000178821.13 | transcript | ENST00000310991.8 | protein_coding | 4670 | chr1 | TogoVar | |||||||
TMEM52_chr1_1912591_1924279 | 1917393 | A | AAC | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG01123.hp1 others(68): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0006others(1): Show | a0001c0001t0001a0003c0003t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0005a0003c0003t0001g0003a0003c0003t0001g0014others(2): Show | 71 | 364 | 0.1951 | 2 | c.*48 others(11): Show |
TMEM52 | ENSG00000178821.13 | transcript | ENST00000310991.8 | protein_coding | 197 | chr1 | TogoVar | |||||||
TMEM53_chr1_44648247_44679481 | 44659855 | C | CTT | intron_variant | MODIFIER | HG00408.hp1 HG02027.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0076a0001c0001t0001g0077others(5): Show | 9 | 336 | 0.0268 | 2 | c.183 others(17): Show |
TMEM53 | ENSG00000126106.14 | transcript | ENST00000372237.8 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
TMEM53_chr1_44648247_44679481 | 44667315 | G | GTT | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG01884.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0059others(14): Show | 27 | 336 | 0.0804 | 2 | c.61+ others(17): Show |
TMEM53 | ENSG00000126106.14 | transcript | ENST00000372237.8 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
TMEM53_chr1_44648247_44679481 | 44672770 | T | TAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(106): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(64): Show | 109 | 336 | 0.3244 | 2 | c.61+ others(17): Show |
TMEM53 | ENSG00000126106.14 | transcript | ENST00000372237.8 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
TMEM54_chr1_32889595_32906389 | 32902106 | A | ACC | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00733.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(14): Show | 33 | 362 | 0.0912 | 2 | c.-86 others(11): Show |
TMEM54 | ENSG00000121900.19 | transcript | ENST00000373463.8 | protein_coding | 718 | chr1 | TogoVar | |||||||
TMEM54_chr1_32889595_32906389 | 32903997 | C | CAA | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01978.hp1 HG01978.hp2 others(24): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(9): Show | 27 | 362 | 0.0746 | 2 | c.-27 others(13): Show |
TMEM54 | ENSG00000121900.19 | transcript | ENST00000373463.8 | protein_coding | 2609 | chr1 | TogoVar | |||||||
TMEM59L_chr19_18607870_18626039 | 18618646 | C | CGT | intron_variant | MODIFIER | HG01261.hp1 NA18970.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112a0001c0002t0002g0113a0001c0002t0002g0114others(1): Show | 4 | 408 | 0.0098 | 2 | c.900 others(17): Show |
TMEM59L | ENSG00000105696.9 | transcript | ENST00000262817.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMEM59L_chr19_18607870_18626039 | 18619973 | T | TCA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0030others(28): Show | 78 | 408 | 0.1912 | 2 | c.901 others(17): Show |
TMEM59L | ENSG00000105696.9 | transcript | ENST00000262817.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMEM59L_chr19_18607870_18626039 | 18621386 | T | TAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(37): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0078a0001c0002t0002g0003others(15): Show | 40 | 408 | 0.0980 | 2 | c.*85 others(11): Show |
TMEM59L | ENSG00000105696.9 | transcript | ENST00000262817.8 | protein_coding | 348 | chr19 | TogoVar | |||||||
TMEM59L_chr19_18607870_18626039 | 18621420 | C | CAT | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02055.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0001 | a0001c0001t0005g0032a0001c0001t0005g0100a0001c0001t0005g0101others(2): Show | 5 | 408 | 0.0123 | 2 | c.*88 others(11): Show |
TMEM59L | ENSG00000105696.9 | transcript | ENST00000262817.8 | protein_coding | 382 | chr19 | TogoVar | |||||||
TMEM59L_chr19_18607870_18626039 | 18623281 | C | CAA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(146): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(46): Show | 149 | 408 | 0.3652 | 2 | c.*27 others(13): Show |
TMEM59L | ENSG00000105696.9 | transcript | ENST00000262817.8 | protein_coding | 2243 | chr19 | TogoVar | |||||||
TMEM59L_chr19_18607870_18626039 | 18623293 | A | AAG | downstream_gene_variant | MODIFIER | HG01123.hp1 HG02451.hp1 HG03098.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016a0001c0001t0005g0045a0001c0001t0005g0046others(1): Show | 8 | 408 | 0.0196 | 2 | c.*27 others(13): Show |
TMEM59L | ENSG00000105696.9 | transcript | ENST00000262817.8 | protein_coding | 2255 | chr19 | TogoVar | |||||||
TMEM59L_chr19_18607870_18626039 | 18623295 | A | AAG | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02145.hp2 HG02717.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(4): Show | 9 | 408 | 0.0221 | 2 | c.*27 others(13): Show |
TMEM59L | ENSG00000105696.9 | transcript | ENST00000262817.8 | protein_coding | 2257 | chr19 | TogoVar | |||||||
TMEM59_chr1_54021681_54058204 | 54023259 | T | TAC | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01167.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0015a0001c0001t0002g0145others(27): Show | 52 | 362 | 0.1437 | 2 | c.*88 others(13): Show |
TMEM59 | ENSG00000116209.12 | transcript | ENST00000234831.10 | protein_coding | 3421 | chr1 | TogoVar |