| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PLPP4_chr10_120452227_120597065 | 120467142 | AATCTCGG others(2142): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(254): Show | 257 | 328 | 0.7835 | -2149 | c.56+ others(16): Show |
PLPP4 | ENSG00000203805.11 | transcript | ENST00000398250.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PLPP4_chr10_120452227_120597065 | 120467165 | GCCTCCCA others(2142): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0249 | 1 | 328 | 0.0031 | -2149 | c.56+ others(16): Show |
PLPP4 | ENSG00000203805.11 | transcript | ENST00000398250.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| KDM4B_chr19_4964113_5158598 | 4974059 | CCACTGCA others(2141): Show |
C | intron_variant | MODIFIER | NA18944.hp2 NA18954.hp1 |
a0001a0005 | a0001c0001a0005c0033 | a0001c0001t0001a0005c0033t0001 | a0001c0001t0001g0184a0005c0033t0001g0183 | 2 | 270 | 0.0074 | -2148 | c.-10 others(19): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| NTSR1_chr20_62703836_62767771 | 62741271 | GGCTTCTG others(2141): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp1 HG01167.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0094others(41): Show | 47 | 316 | 0.1487 | -2148 | c.715 others(19): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| PRAMEF5_chr1_13249198_13268435 | 13255550 | ATCTCACA others(2139): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
a0010 | a0010c0009 | a0010c0009t0006 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | 142 | 0.0282 | -2146 | c.-23 others(17): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRAMEF5_chr1_13249198_13268435 | 13255470 | GTGGCCGA others(2137): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0015 | a0015c0014 | a0015c0014t0006 | a0015c0014t0006g0084 | 1 | 142 | 0.0070 | -2144 | c.-23 others(17): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 253850 | CGTCTGTC others(2137): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0095 | 1 | 133 | 0.0075 | -2144 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
| BCL7A_chr12_122016884_122067044 | 122045131 | AGCACTTT others(2136): Show |
A | intron_variant | MODIFIER | HG02698.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020 | a0001c0001t0014g0255a0001c0001t0020g0185 | 2 | 362 | 0.0055 | -2143 | c.439 others(17): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TMED8_chr14_77330029_77382094 | 77349370 | TGCCTCCC others(2136): Show |
T | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 328 | 0.0031 | -2143 | c.197 others(16): Show |
TMED8 | ENSG00000100580.8 | transcript | ENST00000216468.8 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
| FGF12_chr3_192134390_192732541 | 192672100 | CTTCTATA others(2135): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0068 | 1 | 90 | 0.0111 | -2142 | c.13+ others(17): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
| NOTCH4_chr6_32189843_32229067 | 32205125 | GTGCAAGA others(2135): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG02132.hp2 NA18946.hp1 others(12): Show |
a0009 | a0009c0008a0009c0068 | a0009c0008t0001a0009c0068t0001 | a0009c0008t0001g0027a0009c0008t0001g0028a0009c0008t0001g0288others(8): Show | 15 | 437 | 0.0343 | -2142 | c.286 others(18): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 18/29 | chr6 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1637186 | GTCCTGTG others(2132): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG03239.hp1 HG03831.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0024a0002c0002t0001g0015a0002c0002t0001g0042others(1): Show | 4 | 223 | 0.0179 | -2139 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36484987 | TTCCCCCA others(2132): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0054 | a0001c0001t0051g0295a0001c0001t0054g0224 | 2 | 388 | 0.0052 | -2139 | c.*27 others(11): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 7/7 | 2712 | chr11 | TogoVar | ||||||
| COX7B2_chr4_46729827_46914245 | 46794983 | TAAAGGAG others(2131): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01261.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0128others(14): Show | 17 | 300 | 0.0567 | -2138 | c.-50 others(19): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38939340 | ATATATGT others(2129): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 344 | 0.0029 | -2136 | c.108 others(18): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 9/10 | chr17 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1236235 | ATGGCACC others(2128): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp2 HG02922.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0022a0001c0003t0013others(6): Show | a0001c0002t0001g0015a0001c0002t0022g0034a0001c0003t0013g0007others(6): Show | 9 | 40 | 0.2250 | -2135 | c.74- others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 320127 | TCAGAGAT others(2128): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01943.hp1 HG01993.hp2 others(5): Show |
a0001a0002a0016others(1): Show | a0001c0032a0002c0008a0002c0076others(2): Show | a0001c0032t0006a0002c0008t0001a0002c0076t0001others(2): Show | a0001c0032t0006g0127a0002c0008t0001g0111a0002c0008t0001g0112others(5): Show | 8 | 256 | 0.0313 | -2135 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| SHTN1_chr10_116876477_117010187 | 116954579 | TAAATGTC others(2128): Show |
T | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 292 | 0.0034 | -2135 | c.268 others(16): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1236201 | TTCTCTCA others(2126): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | -2133 | c.74- others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| MBNL1_chr3_152263929_152470780 | 152406983 | TGTGTGTA others(2125): Show |
T | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0327 | 1 | 338 | 0.0030 | -2132 | c.175 others(17): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ADAMTS17_chr15_99966437_100346975 | 100001822 | AGCCCCCC others(2123): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA18906.hp2 |
a0002 | a0002c0001a0002c0055 | a0002c0001t0024a0002c0055t0014 | a0002c0001t0024g0175a0002c0055t0014g0002 | 2 | 228 | 0.0088 | -2130 | c.259 others(19): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
| CNTN5_chr11_99015949_100363885 | 99682918 | CAACCACA others(2123): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 66 | 0.0152 | -2130 | c.55+ others(19): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM47A_chrX_34124752_34137314 | 34135184 | TTCTTATA others(2123): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 324 | 0.0031 | -2130 | c.-50 others(11): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 2871 | chrX | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1070235 | GAGCCCCC others(2123): Show |
G | intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0047 | 1 | 118 | 0.0085 | -2130 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
| MBD3L4_chr19_7032749_7045179 | 7043051 | CTCCTGAC others(2121): Show |
C | upstream_gene_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 262 | 0.0038 | -2128 | c.-50 others(11): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2873 | chr19 | TogoVar | |||||||
| PCSK5_chr9_75885673_76367975 | 76304610 | CATTTTAG others(2121): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02723.hp1 HG02738.hp1 others(5): Show |
a0001a0002a0007others(4): Show | a0001c0049a0002c0017a0007c0015others(5): Show | a0001c0049t0013a0002c0017t0002a0007c0015t0001others(5): Show | a0001c0049t0013g0120a0002c0017t0002g0065a0007c0015t0001g0059others(5): Show | 8 | 166 | 0.0482 | -2128 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51802408 | ACATGAGG others(2120): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(4): Show |
a0002a0004a0006others(3): Show | a0002c0005a0004c0006a0006c0076others(3): Show | a0002c0005t0002a0004c0006t0002a0006c0076t0005others(3): Show | a0002c0005t0002g0021a0004c0006t0002g0048a0004c0006t0002g0055others(4): Show | 7 | 134 | 0.0522 | -2127 | c.830 others(21): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | |||||||
| MTHFD1L_chr6_150860702_151106887 | 151077867 | CGGTGAAA others(2118): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 226 | 0.0044 | -2125 | c.284 others(21): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| RAC2_chr22_37220270_37249269 | 37247146 | CCATGTTG others(2116): Show |
C | upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -2123 | c.-51 others(11): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 2878 | chr22 | TogoVar | |||||||
| ZNF337_chr20_25668195_25701853 | 25699128 | ATTTATTT others(2116): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0007 | 1 | 366 | 0.0027 | -2123 | c.-45 others(11): Show |
ZNF337 | ENSG00000130684.14 | transcript | ENST00000252979.6 | protein_coding | 2276 | chr20 | TogoVar | |||||||
| PDE7B_chr6_135846701_136200574 | 136159995 | TTTAGGGT others(2113): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0002 | 1 | 142 | 0.0070 | -2120 | c.711 others(17): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 8/12 | chr6 | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2277660 | AGAGGGAG others(2111): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0011 | a0011c0007 | a0011c0007t0001 | a0011c0007t0001g0028 | 1 | 50 | 0.0200 | -2118 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| DNAJC3_chr13_95672139_95799988 | 95765697 | GAGTAGCT others(2111): Show |
G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 374 | 0.0027 | -2118 | c.107 others(19): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| MED6_chr14_70578221_70605655 | 70580454 | ATTGGATG others(2111): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 406 | 0.0025 | -2118 | c.*22 others(11): Show |
MED6 | ENSG00000133997.12 | transcript | ENST00000256379.10 | protein_coding | 2766 | chr14 | TogoVar | |||||||
| PEX13_chr2_61012720_61056990 | 61054874 | TCAGCCTC others(2109): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0049 | 3 | 354 | 0.0085 | -2116 | c.*61 others(11): Show |
PEX13 | ENSG00000162928.9 | transcript | ENST00000295030.6 | protein_coding | 2885 | chr2 | TogoVar | |||||||
| RAP1GAP2_chr17_2791438_3042741 | 2942780 | ATTTTTGA others(2108): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0132 | 1 | 218 | 0.0046 | -2115 | c.166 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MKLN1_chr7_131322876_131501632 | 131393971 | ATTTTATG others(2107): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 320 | 0.0031 | -2114 | c.401 others(17): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 4/17 | chr7 | TogoVar | |||||||
| NMBR_chr6_142069484_142152122 | 142093992 | ATGGGGTT others(2105): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 330 | 0.0030 | -2112 | c.-66 others(19): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| HS6ST2_chrX_132621015_132963629 | 132805403 | GGCCCAAC others(2104): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0139 | 2 | 201 | 0.0100 | -2111 | c.948 others(19): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
| PDE5A_chr4_119489403_119633804 | 119631693 | GGAGATTC others(2104): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02486.hp2 HG03130.hp1 |
a0002 | a0002c0006 | a0002c0006t0017a0002c0006t0029 | a0002c0006t0017g0154a0002c0006t0017g0155a0002c0006t0029g0153 | 3 | 336 | 0.0089 | -2111 | c.-51 others(11): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 2890 | chr4 | TogoVar | |||||||
| SLC4A10_chr2_161619416_161990270 | 161841917 | TAAATTTA others(2104): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 118 | 0.0085 | -2111 | c.416 others(17): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3092120 | CGCAGCGC others(2101): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 340 | 0.0029 | -2108 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SRRM4_chr12_118976541_119168051 | 119002903 | GTTTACAC others(2100): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0012others(10): Show | a0001c0001t0004g0101a0001c0001t0004g0102a0001c0001t0011g0290others(16): Show | 19 | 328 | 0.0579 | -2107 | c.131 others(19): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744870 | CCCCGGGG others(2099): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0285a0001c0001t0023g0293 | 2 | 366 | 0.0055 | -2106 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744895 | CTCGCCGT others(2099): Show |
C | intron_variant | MODIFIER | HG01517.hp1 HG01884.hp1 HG02056.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0017 | a0001c0001t0001g0206a0001c0001t0001g0211a0001c0001t0001g0216others(1): Show | 4 | 366 | 0.0109 | -2106 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MSI2_chr17_57251523_57689689 | 57610448 | TCTAAAAA others(2098): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0045others(79): Show | 82 | 168 | 0.4881 | -2105 | c.538 others(17): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744874 | GGGGTCGC others(2098): Show |
G | intron_variant | MODIFIER | HG02132.hp2 NA18962.hp1 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0210a0001c0001t0007g0305a0001c0001t0007g0306 | 3 | 366 | 0.0082 | -2105 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744927 | CCCGGGGG others(2098): Show |
C | intron_variant | MODIFIER | NA18942.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0205 | 2 | 366 | 0.0055 | -2105 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(2098): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279a0001c0001t0001g0280 | 2 | 366 | 0.0055 | -2105 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PTPRR_chr12_70633079_70925738 | 70807537 | TAGTTCAG others(2097): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0183 | 1 | 204 | 0.0049 | -2104 | c.358 others(19): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 2/13 | chr12 | TogoVar |