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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NTAN1_chr16_15032857_15061074 | 15048964 | GCCCAGGC others(128): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0129 a0001c0001t0002g0056 a0001c0001t0002g0057 others(3): Show |
8 | 453 | 0.0177 | -135 | c.82- others(14): Show |
NTAN1 | ENSG00000157045.9 | transcript | ENST00000287706.8 | protein_coding | 1/9 | chr16 | TogoVar | |||||||
NTN5_chr19_48656407_48678017 | 48669441 | CCACCATC others(128): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 412 | 0.0024 | -135 | c.631 others(15): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
NXN_chr17_794310_984776 | 860276 | GCCGCGCC others(128): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01169.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0086 others(9): Show |
12 | 242 | 0.0496 | -135 | c.361 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 860546 | ACCGCGCC others(128): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0062 a0001c0001t0013g0220 |
2 | 242 | 0.0083 | -135 | c.361 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 914143 | ACCTACCT others(128): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(152): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0046 others(152): Show |
155 | 242 | 0.6405 | -135 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 914180 | GCCCGCCA others(128): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0014 a0001c0001t0027g0010 |
2 | 242 | 0.0083 | -135 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 914236 | CGTTGGCC others(128): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0002g0136 others(7): Show |
10 | 242 | 0.0413 | -135 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686372 | CCCCCCGC others(128): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02071.hp2 HG02132.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0040 others(7): Show |
10 | 362 | 0.0276 | -135 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
PABPC4_chr1_39555816_39581790 | 39572677 | AGGTAATC others(128): Show |
A | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 374 | 0.0027 | -135 | c.194 others(14): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69300614 | TTTCTTTC others(128): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00673.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 others(19): Show |
22 | 284 | 0.0775 | -135 | c.-27 others(19): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101360480 | ACACACTC others(128): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0082 | 1 | 336 | 0.0030 | -135 | c.185 others(19): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101360494 | GGGGGCCT others(128): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01496.hp2 HG01891.hp2 others(23): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0005others(9): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(13): Show | a0001c0002t0001g0170 a0001c0002t0001g0203 a0001c0002t0001g0253 others(23): Show |
26 | 336 | 0.0774 | -135 | c.185 others(19): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39227108 | ACCATGAC others(128): Show |
A | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0026 | a0001c0001t0020g0046 a0001c0001t0026g0096 |
2 | 386 | 0.0052 | -135 | c.602 others(17): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 32050061 | CCTGGGAT others(128): Show |
C | intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0026 | 1 | 216 | 0.0046 | -135 | c.166 others(19): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196712 | TTATATAT others(128): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0230 | 1 | 428 | 0.0023 | -135 | c.449 others(17): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24932007 | TCCTGCCT others(128): Show |
T | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 197 | 0.0051 | -135 | c.426 others(19): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35425222 | CAAAATCC others(128): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0033 | a0001c0002t0007g0020 a0001c0002t0033g0047 |
2 | 238 | 0.0084 | -135 | c.107 others(17): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149738132 | CATCACTC others(128): Show |
C | intron_variant | MODIFIER | HG03669.hp2 | a0004 | a0004c0005 | a0004c0005t0055 | a0004c0005t0055g0086 | 1 | 320 | 0.0031 | -135 | c.78+ others(15): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPFIBP2_chr11_7508999_7658756 | 7594518 | ATGCCTGT others(128): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02572.hp2 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0001others(5): Show | a0001c0001t0004g0186 a0001c0001t0009g0037 a0001c0002t0001g0171 others(5): Show |
8 | 318 | 0.0252 | -135 | c.372 others(17): Show |
PPFIBP2 | ENSG00000166387.14 | transcript | ENST00000299492.9 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 342489 | GGAGACCT others(128): Show |
G | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 25 | 0.0400 | -135 | c.103 others(17): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 342516 | GGAGACCT others(128): Show |
G | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0015 | 1 | 25 | 0.0400 | -135 | c.103 others(17): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 342813 | GGAGACCT others(128): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0004 | a0004c0012 | a0004c0012t0010 | a0004c0012t0010g0024 | 1 | 25 | 0.0400 | -135 | c.103 others(18): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855362 | GCCCTCCA others(128): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0024 others(25): Show |
28 | 252 | 0.1111 | -135 | c.114 others(19): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66798563 | GTGGTGGT others(128): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0120 | 1 | 178 | 0.0056 | -135 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PSIP1_chr9_15459066_15515970 | 15488682 | TGAGACCA others(128): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 | 1 | 300 | 0.0033 | -135 | c.288 others(17): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 4/15 | chr9 | TogoVar | |||||||
PTGES3L_chr17_42963103_42985080 | 42967378 | TATATAAT others(128): Show |
T | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 336 | 0.0030 | -135 | c.*16 others(11): Show |
PTGES3L | ENSG00000267060.7 | transcript | ENST00000591916.7 | protein_coding | 724 | chr17 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803079 | CGGGGGCC others(128): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG03471.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0002a0002c0004t0011 | a0001c0001t0001g0304 a0002c0002t0002g0069 a0002c0004t0011g0183 |
3 | 330 | 0.0091 | -135 | c.-51 others(11): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4868 | chr9 | TogoVar | |||||||
RANBP17_chr5_170857018_171305015 | 170916079 | ATTATATT others(128): Show |
A | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 192 | 0.0052 | -135 | c.835 others(15): Show |
RANBP17 | ENSG00000204764.14 | transcript | ENST00000523189.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114119807 | CTCTCCAG others(128): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 67 | 0.0149 | -135 | c.55+ others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 240882044 | AGCTGGAA others(128): Show |
A | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 112 | 0.0089 | -135 | c.386 others(19): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80313827 | GTGGAGGT others(128): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG02055.hp1 others(11): Show |
a0001a0002a0009others(6): Show | a0001c0094a0002c0099a0009c0016others(8): Show | a0001c0094t0001a0002c0099t0058a0009c0016t0059others(10): Show | a0001c0094t0001g0162 a0002c0099t0058g0255 a0009c0016t0059g0098 others(11): Show |
14 | 292 | 0.0480 | -135 | c.281 others(17): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80313914 | ATGGTGGA others(128): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(39): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0034others(32): Show | a0001c0001t0001g0040 a0001c0001t0001g0112 a0001c0001t0001g0126 others(39): Show |
42 | 292 | 0.1438 | -135 | c.281 others(17): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80315144 | GTAAAGGT others(128): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 HG03516.hp1 others(1): Show |
a0018a0028a0102 | a0018c0108a0028c0034a0102c0128 | a0018c0108t0006a0028c0034t0006a0028c0034t0012others(1): Show | a0018c0108t0006g0083 a0028c0034t0006g0239 a0028c0034t0012g0237 others(1): Show |
4 | 292 | 0.0137 | -135 | c.281 others(19): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 220860 | ACAGCTCG others(128): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0086 others(3): Show |
6 | 133 | 0.0451 | -135 | c.614 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668880 | CTCCCTCA others(128): Show |
C | intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0233 | 1 | 262 | 0.0038 | -135 | c.249 others(19): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1923871 | CGCCTCGG others(128): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(78): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0030 a0001c0001t0001g0099 a0001c0001t0001g0127 others(67): Show |
81 | 442 | 0.1833 | -135 | c.514 others(14): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SEMA6B_chr19_4537593_4564684 | 4561829 | TTTGAACT others(128): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02818.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0009t0003others(3): Show | a0001c0001t0001g0207 a0001c0001t0004g0205 a0001c0009t0003g0203 others(3): Show |
6 | 440 | 0.0136 | -135 | c.-24 others(11): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 2146 | chr19 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056650 | AATATATT others(128): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG01884.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015 | a0001c0001t0006g0281 a0001c0001t0006g0286 a0001c0001t0006g0288 others(8): Show |
11 | 394 | 0.0279 | -135 | c.140 others(19): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056767 | AACATATT others(128): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0189 | 1 | 394 | 0.0025 | -135 | c.140 others(19): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101491313 | GGATCTCG others(128): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(160): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0005a0005c0007others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(160): Show |
163 | 370 | 0.4405 | -135 | c.186 others(17): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1738865 | GGCCTGAT others(128): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01361.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0023 a0001c0001t0007g0141 a0001c0001t0009g0001 others(1): Show |
6 | 445 | 0.0135 | -135 | c.-40 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 4005 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740393 | GGCCTGAT others(128): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0145 | 1 | 445 | 0.0023 | -135 | c.-25 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2477 | chr17 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169229924 | GGCCAGGC others(128): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(12): Show | a0001c0001t0001g0061 a0001c0001t0001g0096 a0001c0001t0003g0062 others(32): Show |
35 | 216 | 0.1620 | -135 | c.393 others(19): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SLC25A18_chr22_17558498_17595995 | 17586275 | GAGGCAGG others(128): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0029 | 1 | 410 | 0.0024 | -135 | c.410 others(15): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SLC39A14_chr8_22362278_22427736 | 22396389 | GAGAGAGA others(128): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02300.hp1 HG03209.hp1 others(1): Show |
a0002a0003 | a0002c0010a0003c0001 | a0002c0010t0012a0003c0001t0001 | a0002c0010t0012g0285 a0003c0001t0001g0087 a0003c0001t0001g0088 others(1): Show |
4 | 324 | 0.0124 | -135 | c.-15 others(17): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC39A14_chr8_22362278_22427736 | 22396391 | GAGAGAGA others(128): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01261.hp2 HG02273.hp1 others(5): Show |
a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0076 a0003c0001t0001g0080 a0003c0001t0001g0082 others(5): Show |
8 | 324 | 0.0247 | -135 | c.-15 others(17): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC39A14_chr8_22362278_22427736 | 22396397 | GAGAGAGA others(128): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 | 1 | 324 | 0.0031 | -135 | c.-15 others(17): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203219 | GGAGACCG others(128): Show |
G | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0018 | a0001c0018t0027 | a0001c0018t0027g0009 | 1 | 188 | 0.0053 | -135 | c.*82 others(11): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3954 | chr8 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2291626 | TCTTGGGA others(128): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show |
a0001a0003a0006others(12): Show | a0001c0001a0001c0020a0001c0023others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0211 others(159): Show |
162 | 278 | 0.5827 | -135 | c.233 others(17): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 6/18 | chr17 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69202277 | CCTCACAT others(128): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0055 a0001c0001t0013g0056 a0001c0001t0013g0062 |
3 | 218 | 0.0138 | -135 | c.580 others(19): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | chr16 | TogoVar |