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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZP4_chr1_237877404_237895922 | 237883710 | AGGGCGG | A | intron_variant | MODIFIER | HG00673.hp1 HG01981.hp2 HG02109.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0005others(2): Show | a0001c0001t0001a0002c0003t0002a0003c0005t0002others(2): Show | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(4): Show |
9 | 445 | 0.0202 | -6 | c.139 others(23): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
ZP4_chr1_237877404_237895922 | 237883977 | CACACAA | C | intron_variant | MODIFIER | HG01168.hp2 HG01952.hp2 HG02004.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0148 others(1): Show |
9 | 445 | 0.0202 | -6 | c.139 others(23): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
ZP4_chr1_237877404_237895922 | 237884011 | CACACAA | C | intron_variant | MODIFIER | HG00621.hp2 HG02071.hp1 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0202 |
3 | 434 | 0.0069 | -6 | c.139 others(23): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
ZP4_chr1_237877404_237895922 | 237884017 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01168.hp2 others(42): Show |
a0001a0013 | a0001c0001a0001c0002a0013c0015 | a0001c0001t0001a0001c0002t0001a0013c0015t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(29): Show |
45 | 297 | 0.1515 | -6 | c.139 others(23): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
ZPBP2_chr17_39863202_39882896 | 39881744 | AAACAAC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(149): Show |
a0001a0002a0004others(3): Show | a0001c0011a0002c0002a0002c0004others(8): Show | a0001c0011t0002a0002c0002t0002a0002c0004t0002others(11): Show | a0001c0011t0002g0002 a0002c0002t0002g0002 a0002c0002t0002g0004 others(68): Show |
152 | 306 | 0.4967 | -6 | c.*49 others(17): Show |
ZPBP2 | ENSG00000186075.13 | transcript | ENST00000348931.9 | protein_coding | 3849 | chr17 | TogoVar | |||||||
ZPBP_chr7_49932441_50098246 | 49969814 | TATATAG | T | intron_variant | MODIFIER | HG01081.hp2 HG01993.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 |
3 | 261 | 0.0115 | -6 | c.961 others(25): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
ZPBP_chr7_49932441_50098246 | 49981349 | AATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(121): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(118): Show |
124 | 276 | 0.4493 | -6 | c.961 others(23): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
ZPBP_chr7_49932441_50098246 | 49987728 | TTGTGTG | T | intron_variant | MODIFIER | HG01993.hp2 HG02083.hp2 HG02148.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0044 a0001c0001t0001g0094 a0001c0001t0001g0127 others(13): Show |
16 | 40 | 0.4000 | -6 | c.784 others(23): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ZPBP_chr7_49932441_50098246 | 50005823 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(45): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0047 others(42): Show |
48 | 97 | 0.4948 | -6 | c.783 others(25): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ZPBP_chr7_49932441_50098246 | 50029845 | CTGTTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(123): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(120): Show |
126 | 274 | 0.4599 | -6 | c.706 others(23): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
ZPLD1_chr3_102430015_102484841 | 102442319 | AACACAC | A | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01081.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(36): Show |
45 | 80 | 0.5625 | -6 | c.106 others(23): Show |
ZPLD1 | ENSG00000170044.9 | transcript | ENST00000466937.2 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ZPLD1_chr3_102430015_102484841 | 102452114 | CGTGTGT | C | intron_variant | MODIFIER | HG01106.hp1 HG01515.hp2 HG01517.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0093 others(24): Show |
33 | 63 | 0.5238 | -6 | c.107 others(21): Show |
ZPLD1 | ENSG00000170044.9 | transcript | ENST00000466937.2 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ZPR1_chr11_116768799_116793023 | 116775627 | CAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG02965.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0033a0001c0001t0070a0001c0001t0071others(5): Show | a0001c0001t0033g0059 a0001c0001t0033g0176 a0001c0001t0070g0085 others(6): Show |
10 | 54 | 0.1852 | -6 | c.*32 others(17): Show |
ZPR1 | ENSG00000109917.11 | transcript | ENST00000227322.8 | protein_coding | 14/14 | 3292 | chr11 | TogoVar | ||||||
ZRANB1_chr10_124937123_124993189 | 124945409 | ATTTTTT | A | intron_variant | MODIFIER | HG01175.hp1 HG02109.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0012a0001c0002t0048others(3): Show | a0001c0002t0010g0230 a0001c0002t0010g0231 a0001c0002t0010g0235 others(11): Show |
14 | 20 | 0.7000 | -6 | c.814 others(23): Show |
ZRANB1 | ENSG00000019995.6 | transcript | ENST00000359653.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ZRANB1_chr10_124937123_124993189 | 124986279 | ACGCGCG | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(65): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0017a0001c0001t0020others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(58): Show |
68 | 271 | 0.2509 | -6 | c.*12 others(17): Show |
ZRANB1 | ENSG00000019995.6 | transcript | ENST00000359653.4 | protein_coding | 9/9 | 1295 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ZRANB3_chr2_135191969_135536218 | 135282598 | TTATAAA | T | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0015a0002c0002t0017 | a0002c0002t0015g0111 a0002c0002t0015g0112 a0002c0002t0017g0113 |
3 | 212 | 0.0142 | -6 | c.967 others(23): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 8/20 | chr2 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135288873 | CGTGTGT | C | intron_variant | MODIFIER | HG02896.hp2 HG03471.hp2 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0083 a0001c0005t0004g0105 |
2 | 88 | 0.0227 | -6 | c.967 others(25): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 8/20 | chr2 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135318212 | TTGTGTG | T | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01175.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0016a0001c0001t0018others(4): Show | a0001c0001t0001g0085 a0001c0001t0016g0213 a0001c0001t0018g0132 others(28): Show |
31 | 88 | 0.3523 | -6 | c.678 others(23): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 6/20 | chr2 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135326898 | CAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(13): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0027 | a0001c0005t0004g0005 a0001c0005t0004g0083 a0001c0005t0004g0089 others(13): Show |
16 | 86 | 0.1860 | -6 | c.678 others(25): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 6/20 | chr2 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135426863 | AATATAT | A | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG02145.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0007 | a0001c0001t0001a0001c0001t0005a0002c0003t0003others(2): Show | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0005g0141 others(5): Show |
8 | 188 | 0.0426 | -6 | c.162 others(25): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
ZSCAN18_chr19_58078856_58103231 | 58089302 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp2 others(67): Show |
a0001a0002a0004 | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0010t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0027 others(52): Show |
70 | 113 | 0.6195 | -6 | c.404 others(21): Show |
ZSCAN18 | ENSG00000121413.13 | transcript | ENST00000601144.6 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
ZSCAN18_chr19_58078856_58103231 | 58101125 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02486.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0004 | a0001c0001t0002a0001c0011t0010a0003c0004t0004 | a0001c0001t0002g0084 a0001c0011t0010g0085 a0003c0004t0004g0014 others(1): Show |
6 | 135 | 0.0444 | -6 | c.-30 others(17): Show |
ZSCAN18 | ENSG00000121413.13 | transcript | ENST00000601144.6 | protein_coding | 2895 | chr19 | TogoVar | |||||||
ZSCAN18_chr19_58078856_58103231 | 58101299 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01975.hp1 HG02109.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0003 | a0001c0001t0001g0222 a0001c0001t0001g0309 a0001c0001t0002g0226 others(4): Show |
8 | 33 | 0.2424 | -6 | c.-32 others(17): Show |
ZSCAN18 | ENSG00000121413.13 | transcript | ENST00000601144.6 | protein_coding | 3069 | chr19 | TogoVar | |||||||
ZSCAN1_chr19_58029025_58059631 | 58031177 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0038 a0001c0002t0004g0045 a0001c0002t0004g0046 others(2): Show |
6 | 96 | 0.0625 | -6 | c.-31 others(17): Show |
ZSCAN1 | ENSG00000152467.10 | transcript | ENST00000282326.6 | protein_coding | 2847 | chr19 | TogoVar | |||||||
ZSCAN21_chr7_100044774_100070040 | 100051282 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 NA18941.hp2 NA18942.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0011 a0001c0001t0003g0029 a0001c0001t0003g0234 others(6): Show |
13 | 73 | 0.1781 | -6 | c.-97 others(23): Show |
ZSCAN21 | ENSG00000166529.16 | transcript | ENST00000292450.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZSCAN22_chr19_58321994_58347332 | 58331516 | ACGTTAT | A | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp2 HG01099.hp2 others(51): Show |
a0001a0003a0008 | a0001c0002a0001c0020a0003c0008others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0011others(4): Show | a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0010 others(22): Show |
54 | 387 | 0.1395 | -6 | c.-51 others(23): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ZSCAN22_chr19_58321994_58347332 | 58331518 | GTTATTA | G | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG02109.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001a0004c0005t0025 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0023 others(9): Show |
15 | 205 | 0.0732 | -6 | c.-51 others(23): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSCAN22_chr19_58321994_58347332 | 58340455 | CTTCTTT | C | 3_prime_UTR_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG01975.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 a0001c0001t0005g0002 |
8 | 331 | 0.0242 | -6 | c.*11 others(17): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 3/3 | 1143 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZSCAN29_chr15_43353175_43376043 | 43370975 | ACCCCGG | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(219): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0013a0001c0015others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0099 others(51): Show |
222 | 231 | 0.9610 | -6 | c.-53 others(15): Show |
ZSCAN29 | ENSG00000140265.14 | transcript | ENST00000684362.1 | protein_coding | 1/6 | 1063 | chr15 | TogoVar | ||||||
ZSCAN2_chr15_84596009_84628716 | 84627965 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(83): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(53): Show |
86 | 127 | 0.6772 | -6 | c.*59 others(17): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 4250 | chr15 | TogoVar | |||||||
ZSCAN30_chr18_35246062_35295229 | 35249652 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02622.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0079 a0001c0001t0001g0203 a0001c0001t0001g0210 others(5): Show |
8 | 280 | 0.0286 | -6 | c.*37 others(17): Show |
ZSCAN30 | ENSG00000186814.15 | transcript | ENST00000333206.10 | protein_coding | 1409 | chr18 | TogoVar | |||||||
ZSCAN30_chr18_35246062_35295229 | 35266657 | ATTTTTT | A | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0166 others(3): Show |
7 | 113 | 0.0619 | -6 | c.-10 others(25): Show |
ZSCAN30 | ENSG00000186814.15 | transcript | ENST00000333206.10 | protein_coding | 1/3 | chr18 | TogoVar | |||||||
ZSCAN32_chr16_3377085_3406004 | 3386399 | TAGAACC | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02257.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0192 a0002c0002t0002g0024 a0002c0002t0002g0025 others(4): Show |
9 | 398 | 0.0226 | -6 | c.752 others(23): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56216585 | CTTCCTT | C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01169.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0002others(4): Show | a0001c0001t0001g0038 a0001c0001t0001g0154 a0001c0001t0001g0193 others(12): Show |
15 | 272 | 0.0551 | -6 | c.*49 others(17): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 4717 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56230615 | ATGTGTG | A | intron_variant | MODIFIER | HG02486.hp2 HG03239.hp2 NA19001.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0001 | a0001c0001t0001g0087 a0001c0001t0001g0141 a0001c0001t0001g0210 others(2): Show |
5 | 83 | 0.0602 | -6 | c.-12 others(25): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56243843 | AGGATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(60): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0053 others(60): Show |
63 | 360 | 0.1750 | -6 | c.-12 others(27): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56253267 | CAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01192.hp2 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 others(39): Show |
42 | 226 | 0.1858 | -6 | c.-12 others(27): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56302575 | TCCTCCC | T | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01884.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0053 others(11): Show |
14 | 360 | 0.0389 | -6 | c.-12 others(27): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSWIM1_chr20_45876227_45890266 | 45884105 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG02602.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0072a0001c0001t0073a0001c0001t0074 | a0001c0001t0072g0002 a0001c0001t0073g0001 a0001c0001t0074g0002 |
3 | 119 | 0.0252 | -6 | c.*88 others(13): Show |
ZSWIM1 | ENSG00000168612.5 | transcript | ENST00000372523.1 | protein_coding | 2/2 | 88 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ZSWIM2_chr2_186822475_186854170 | 186849765 | CCTCTCT | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(54): Show |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0009 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(26): Show |
57 | 123 | 0.4634 | -6 | c.-64 others(15): Show |
ZSWIM2 | ENSG00000163012.4 | transcript | ENST00000295131.3 | protein_coding | 596 | chr2 | TogoVar | |||||||
ZSWIM3_chr20_45852614_45884122 | 45884105 | TACACAC | T | downstream_gene_variant | MODIFIER | HG01074.hp2 HG02602.hp2 HG02896.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0002a0002c0001t0001 | a0001c0003t0002g0138 a0002c0001t0001g0001 a0002c0001t0001g0015 others(1): Show |
4 | 114 | 0.0351 | -6 | c.*54 others(17): Show |
ZSWIM3 | ENSG00000132801.7 | transcript | ENST00000255152.3 | protein_coding | 4984 | chr20 | TogoVar | |||||||
ZSWIM4_chr19_13790443_13837254 | 13822163 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01106.hp1 others(28): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0022others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0009 a0001c0001t0001g0176 a0001c0001t0002g0017 others(27): Show |
31 | 80 | 0.3875 | -6 | c.206 others(25): Show |
ZSWIM4 | ENSG00000132003.10 | transcript | ENST00000590508.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSWIM4_chr19_13790443_13837254 | 13824734 | AAATAAT | A | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02723.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0035others(3): Show | a0001c0001t0001g0129 a0001c0001t0009g0131 a0001c0001t0035g0023 others(4): Show |
7 | 142 | 0.0493 | -6 | c.221 others(23): Show |
ZSWIM4 | ENSG00000132003.10 | transcript | ENST00000590508.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSWIM4_chr19_13790443_13837254 | 13827602 | AAAAAAG | A | intron_variant | MODIFIER | HG02055.hp2 HG03130.hp2 HG03139.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0002g0315 a0001c0001t0010g0006 a0001c0001t0010g0034 others(5): Show |
8 | 354 | 0.0226 | -6 | c.238 others(25): Show |
ZSWIM4 | ENSG00000132003.10 | transcript | ENST00000590508.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSWIM5_chr1_45011399_45211605 | 45044770 | TATATAA | T | intron_variant | MODIFIER | HG01106.hp1 HG01169.hp1 HG01175.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0085 a0002c0004t0001g0093 a0002c0004t0001g0096 |
3 | 231 | 0.0130 | -6 | c.143 others(25): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 5/13 | chr1 | TogoVar | |||||||
ZSWIM5_chr1_45011399_45211605 | 45081237 | AGCTCCC | A | intron_variant | MODIFIER | NA18971.hp1 NA19083.hp1 |
a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0100 a0002c0006t0005g0103 |
2 | 232 | 0.0086 | -6 | c.952 others(23): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
ZSWIM5_chr1_45011399_45211605 | 45081238 | GCTCCCT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(102): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0001g0166 a0001c0002t0001g0002 a0001c0002t0001g0003 others(102): Show |
105 | 230 | 0.4565 | -6 | c.952 others(23): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
ZSWIM5_chr1_45011399_45211605 | 45121602 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00673.hp1 others(26): Show |
a0001 | a0001c0002a0001c0008a0001c0010 | a0001c0002t0001a0001c0002t0002a0001c0008t0010others(1): Show | a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0044 others(26): Show |
29 | 202 | 0.1436 | -6 | c.596 others(25): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ZSWIM6_chr5_61327258_61551172 | 61332326 | GGGCGGC | G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00544.hp1 HG00558.hp1 others(32): Show |
a0003a0005 | a0003c0004a0003c0014a0003c0015others(4): Show | a0003c0004t0003a0003c0004t0004a0003c0004t0006others(7): Show | a0003c0004t0003g0228 a0003c0004t0003g0229 a0003c0004t0003g0230 others(32): Show |
35 | 242 | 0.1446 | -6 | c.69_ others(11): Show |
p.Gly others(11): Show |
ZSWIM6 | ENSG00000130449.6 | transcript | ENST00000252744.6 | protein_coding | 1/14 | 84/5518 | 69/3648 | 23/1215 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
ZSWIM6_chr5_61327258_61551172 | 61355431 | AACACAC | A | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01109.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0022others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0131 others(20): Show |
23 | 39 | 0.5897 | -6 | c.676 others(25): Show |
ZSWIM6 | ENSG00000130449.6 | transcript | ENST00000252744.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |