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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TPO_chr2_1408463_1548673 | 1535430 | TCCCCAAA others(1947): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG02004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080a0001c0001t0001g0094a0001c0001t0002g0039others(1): Show | 4 | 130 | 0.0308 | -1954 | c.261 others(19): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBD3L4_chr19_7032749_7045179 | 7043226 | CAACTTAG others(1946): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0030 | 1 | 262 | 0.0038 | -1953 | c.-50 others(11): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 3048 | chr19 | TogoVar | ||||||
RIPK1_chr6_3063494_3120187 | 3090743 | TGCACCTA others(1946): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0098 | 1 | 340 | 0.0029 | -1953 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RIPK1_chr6_3063494_3120187 | 3092159 | GCCTACCT others(1946): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0334 | 1 | 340 | 0.0029 | -1953 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1013735 | GTGTGTGT others(1944): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0031 | 1 | 40 | 0.0250 | -1951 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PARD3_chr10_34104561_34820296 | 34465707 | TATGTTAA others(1944): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0027a0001c0001t0006g0030 | 2 | 100 | 0.0200 | -1951 | c.582 others(17): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 4/24 | chr10 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241765405 | CTTGGGGA others(1943): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0072 | 1 | 412 | 0.0024 | -1950 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
WDR47_chr1_108965214_109047102 | 109030609 | CTTCCAAG others(1942): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00639.hp1 others(96): Show |
a0001a0004a0005 | a0001c0001a0004c0010a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0188others(94): Show | 99 | 344 | 0.2878 | -1949 | c.-9- others(15): Show |
WDR47 | ENSG00000085433.17 | transcript | ENST00000369962.8 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565424 | ACTCTGTC others(1941): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0173 | 1 | 340 | 0.0029 | -1948 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1235589 | CCCCTCTG others(1940): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0027 | 1 | 106 | 0.0094 | -1947 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147570826 | GGTTTCTC others(1938): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0089 | 1 | 316 | 0.0032 | -1945 | c.-47 others(21): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CERKL_chr2_181531672_181662105 | 181578466 | ATTTTTAT others(1937): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0013 | a0001c0001t0013g0208a0001c0002t0013g0138 | 2 | 298 | 0.0067 | -1944 | c.482 others(17): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565310 | TGTCTGTG others(1937): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 340 | 0.0029 | -1944 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
DCTN5_chr16_23636466_23682472 | 23643248 | GTGGCCCC others(1936): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02132.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 4 | 314 | 0.0127 | -1943 | c.117 others(16): Show |
DCTN5 | ENSG00000166847.10 | transcript | ENST00000300087.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PALB2_chr16_23598165_23646310 | 23643248 | GTGGCCCC others(1936): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG02132.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175a0001c0001t0001g0193a0001c0001t0001g0196others(1): Show | 4 | 326 | 0.0123 | -1943 | c.-40 others(11): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 1939 | chr16 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2280332 | GAGGAGGA others(1935): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0010 | 1 | 50 | 0.0200 | -1942 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 402001 | AGCATTAG others(1934): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0040a0001c0003t0002g0054 | 2 | 88 | 0.0227 | -1941 | c.115 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65972197 | CACCCTTG others(1934): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02257.hp1 others(9): Show |
a0005 | a0005c0006 | a0005c0006t0002a0005c0006t0007a0005c0006t0015others(1): Show | a0005c0006t0002g0229a0005c0006t0002g0263a0005c0006t0007g0026others(9): Show | 12 | 306 | 0.0392 | -1941 | c.-57 others(19): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 113984173 | CACTCACC others(1934): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011a0001c0001t0006g0012 | 2 | 67 | 0.0299 | -1941 | c.224 others(19): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119678407 | CTCCAACC others(1932): Show |
C | downstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0076 | 1 | 420 | 0.0024 | -1939 | c.*11 others(11): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 589 | chr10 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55407113 | CTGAGGTA others(1932): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0002 | 1 | 316 | 0.0032 | -1939 | c.164 others(18): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 2/32 | chr2 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129660224 | ATTATGAG others(1932): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01943.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0145a0001c0001t0002g0146a0001c0001t0002g0147others(5): Show | 8 | 384 | 0.0208 | -1939 | c.223 others(17): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BRINP3_chr1_190092658_190482864 | 190340695 | GAACCTTT others(1930): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 240 | 0.0042 | -1937 | c.237 others(19): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2280359 | AAGAGAGA others(1930): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 50 | 0.0200 | -1937 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2280406 | GGGAGAGA others(1930): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0030 | 1 | 50 | 0.0200 | -1937 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
RTN4IP1_chr6_106565771_106634498 | 106599365 | CCTGTGTC others(1930): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0206 | 1 | 396 | 0.0025 | -1937 | c.669 others(17): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
CXCL9_chr4_75996275_76012509 | 76010573 | AGACCGGG others(1929): Show |
A | upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 436 | 0.0023 | -1936 | c.-50 others(11): Show |
CXCL9 | ENSG00000138755.6 | transcript | ENST00000264888.6 | protein_coding | 3065 | chr4 | TogoVar | ||||||
EMC3_chr3_9957682_9991841 | 9980228 | GGTCTCGA others(1929): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0300 | 1 | 322 | 0.0031 | -1936 | c.155 others(17): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
ANO1_chr11_70073317_70194530 | 70136446 | CCTCGCCT others(1928): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0089a0001c0002t0001g0041a0001c0002t0001g0056others(28): Show | 31 | 302 | 0.1027 | -1935 | c.125 others(19): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(1928): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG03516.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0037 | a0002c0002t0001g0294a0002c0002t0001g0296a0002c0002t0037g0317 | 3 | 366 | 0.0082 | -1935 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(1928): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0066 | a0001c0001t0008g0246a0001c0001t0066g0091 | 2 | 366 | 0.0055 | -1935 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HIP1_chr7_75528298_75743941 | 75565843 | TGCCTCAG others(1927): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG02922.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0023a0001c0001t0030others(5): Show | a0001c0001t0004g0021a0001c0001t0023g0253a0001c0001t0030g0234others(6): Show | 9 | 254 | 0.0354 | -1934 | c.803 others(16): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 9/30 | chr7 | TogoVar | ||||||
ARMC2_chr6_108843422_108979476 | 108930846 | TGGCCTCC others(1926): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0003g0132 | 3 | 290 | 0.0103 | -1933 | c.149 others(19): Show |
ARMC2 | ENSG00000118690.13 | transcript | ENST00000392644.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP8B_chr1_39752182_39793865 | 39776350 | TCCAGAAA others(1926): Show |
T | intron_variant | MODIFIER | HG02135.hp1 HG02523.hp1 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0103 | 3 | 430 | 0.0070 | -1933 | c.335 others(17): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1903428 | GAAGCACT others(1926): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | 264 | 0.0076 | -1933 | c.180 others(19): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
MYOZ2_chr4_119130832_119192789 | 119137926 | CTTAAAAT others(1926): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0314 | 1 | 394 | 0.0025 | -1933 | c.76+ others(15): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NELL2_chr12_44503278_44881315 | 44879382 | CTACATGA others(1926): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0126a0001c0001t0002g0127 | 2 | 158 | 0.0127 | -1933 | c.-54 others(11): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 3068 | chr12 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 745099 | CCCCGGGG others(1926): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0202 | 1 | 366 | 0.0027 | -1933 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RNF2_chr1_185040558_185107603 | 185040669 | ACACATCT others(1925): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01255.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0011others(41): Show | 46 | 350 | 0.1314 | -1932 | c.-49 others(11): Show |
RNF2 | ENSG00000121481.11 | transcript | ENST00000367510.8 | protein_coding | 4888 | chr1 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38186765 | TGGATCAC others(1925): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp2 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0003a0003c0005t0003 | a0002c0002t0003g0086a0003c0005t0003g0110 | 2 | 164 | 0.0122 | -1932 | c.443 others(19): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130647391 | AGCAGCTT others(1924): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01074.hp1 others(19): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0001t0001g0029others(19): Show | 22 | 180 | 0.1222 | -1931 | c.-35 others(21): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
DCLK3_chr3_36707421_36769553 | 36722722 | ATGCCATC others(1923): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0247 | 1 | 422 | 0.0024 | -1930 | c.196 others(19): Show |
DCLK3 | ENSG00000163673.8 | transcript | ENST00000636136.2 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
DCLK3_chr3_36707421_36769553 | 36722769 | AATTGTGG others(1923): Show |
A | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 422 | 0.0024 | -1930 | c.196 others(19): Show |
DCLK3 | ENSG00000163673.8 | transcript | ENST00000636136.2 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
PARN_chr16_14430701_14635260 | 14518591 | GAAACAGA others(1923): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 169 | 0.0059 | -1930 | c.148 others(21): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 21/23 | chr16 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429541 | CGTCTTCT others(1922): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0146 | 1 | 360 | 0.0028 | -1929 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IMMP2L_chr7_110657644_111567492 | 111425275 | ACCATGAG others(1922): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 84 | 0.0119 | -1929 | c.239 others(19): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1344289 | CTTTTCCC others(1922): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0079 | 1 | 190 | 0.0053 | -1929 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACAP3_chr1_1287391_1312930 | 1288264 | TCTGCTCC others(1920): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0212 | 1 | 295 | 0.0034 | -1927 | c.*33 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4126 | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288264 | TCTGCTCC others(1920): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0011 | a0011c0023 | a0011c0023t0001 | a0011c0023t0001g0264 | 1 | 290 | 0.0035 | -1927 | c.166 others(16): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1342932 | CCCCCTGT others(1920): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0003 | 1 | 190 | 0.0053 | -1927 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |