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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(772): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0130 | 1 | 376 | 0.0027 | 779 | c.*15 others(790): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(772): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 376 | 0.0027 | 779 | c.*15 others(790): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PLCL2_chr3_16879955_17095604 | 16980139 | G | GGGGGGCT others(772): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0063 | 1 | 250 | 0.0040 | 779 | c.328 others(798): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCTGCA others(772): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0037 | a0037c0062 | a0037c0062t0010 | a0037c0062t0010g0165 | 1 | 210 | 0.0048 | 779 | c.147 others(796): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397832 | A | AGGGGGGG others(772): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0220 | 1 | 340 | 0.0029 | 779 | c.227 others(796): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918972 | A | AGAAGGAG others(772): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG03486.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0008a0001c0001t0013a0003c0011t0028 | a0001c0001t0008g0252 a0001c0001t0013g0310 a0003c0011t0028g0308 |
3 | 314 | 0.0096 | 779 | c.916 others(796): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124839644 | T | TCCCAACA others(772): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 | 1 | 356 | 0.0028 | 779 | c.127 others(798): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(772): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0070 | 1 | 356 | 0.0028 | 779 | c.127 others(798): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4264045 | C | CGTAGACC others(772): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19030.hp1 |
a0001 | a0001c0064a0001c0093 | a0001c0064t0006a0001c0093t0006 | a0001c0064t0006g0111 a0001c0093t0006g0053 |
2 | 116 | 0.0172 | 779 | c.638 others(798): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4264045 | C | CGTAGACC others(772): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 |
a0002 | a0002c0012 | a0002c0012t0016 | a0002c0012t0016g0002 a0002c0012t0016g0003 |
2 | 116 | 0.0172 | 779 | c.638 others(798): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(772): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0131 | 1 | 190 | 0.0053 | 779 | c.72+ others(796): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102549903 | G | GTGTCCAG others(772): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0009 | a0002c0009t0008 | a0002c0009t0008g0127 | 1 | 164 | 0.0061 | 779 | c.-18 others(790): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 1322 | chr7 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(772): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0001 a0001c0001t0014g0096 a0001c0001t0014g0101 |
4 | 322 | 0.0124 | 779 | c.597 others(796): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628734 | A | ACGGGGTG others(772): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0030 | a0001c0005t0030g0192 | 1 | 352 | 0.0028 | 779 | c.299 others(796): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2418913 | C | CATCCCTT others(772): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 114 | 0.0088 | 779 | c.215 others(796): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(772): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0089 | 1 | 384 | 0.0026 | 779 | c.424 others(796): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(772): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0144 | 1 | 238 | 0.0042 | 779 | c.392 others(796): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917104 | C | CGGGTTCG others(772): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 344 | 0.0029 | 779 | c.218 others(794): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5305385 | A | ACACACAT others(773): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0268 | 1 | 332 | 0.0030 | 780 | c.318 others(799): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19917870 | C | CCGTGATC others(773): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG02083.hp2 others(15): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0008a0003c0003t0015others(1): Show | a0003c0003t0005g0236 a0003c0003t0005g0239 a0003c0003t0005g0243 others(15): Show |
18 | 278 | 0.0648 | 780 | c.183 others(799): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 12/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19917870 | C | CCGTGATC others(773): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0244 | 1 | 278 | 0.0036 | 780 | c.183 others(799): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 12/14 | chr17 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(773): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 300 | 0.0033 | 780 | c.-70 others(789): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGGA others(773): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 300 | 0.0033 | 780 | c.-70 others(789): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
C2orf16_chr2_27532386_27587722 | 27539760 | C | CCCCCCCC others(773): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0148 | 1 | 326 | 0.0031 | 780 | c.144 others(797): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CDH3_chr16_68640310_68705292 | 68641956 | T | TTGCACTC others(773): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 a0001c0001t0003g0276 |
2 | 338 | 0.0059 | 780 | c.-34 others(791): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 3353 | chr16 | TogoVar | |||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0034 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03831.hp2 NA18968.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0001g0077 others(2): Show |
5 | 342 | 0.0146 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0122 |
2 | 342 | 0.0059 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(773): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0124 |
2 | 342 | 0.0059 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485435 | C | CGGGGCGG others(773): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485439 | G | GCGGCTGG others(773): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 342 | 0.0029 | 780 | c.844 others(797): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | chr13 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178525250 | A | AGGACCCG others(773): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 236 | 0.0042 | 780 | c.361 others(799): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(773): Show |
intron_variant | MODIFIER | HG02257.hp1 NA20129.hp1 |
a0008a0039 | a0008c0088a0039c0010 | a0008c0088t0076a0039c0010t0070 | a0008c0088t0076g0057 a0039c0010t0070g0084 |
2 | 126 | 0.0159 | 780 | c.415 others(801): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(773): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
a0001a0002a0023others(1): Show | a0001c0004a0001c0026a0001c0111others(3): Show | a0001c0004t0020a0001c0026t0006a0001c0111t0045others(3): Show | a0001c0004t0020g0086 a0001c0026t0006g0093 a0001c0111t0045g0063 others(3): Show |
6 | 126 | 0.0476 | 780 | c.415 others(801): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932541 | T | TGGGCAGA others(773): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0004 | a0001c0004t0071 | a0001c0004t0071g0046 | 1 | 386 | 0.0026 | 780 | c.198 others(797): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(773): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0184 | 1 | 216 | 0.0046 | 780 | c.923 others(799): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716360 | T | TGTGTTGG others(773): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0157 | 1 | 170 | 0.0059 | 780 | c.86- others(793): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716360 | T | TGTGTTGG others(773): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0170 | 1 | 170 | 0.0059 | 780 | c.86- others(793): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399854 | A | ACTCTTAG others(773): Show |
intron_variant | MODIFIER | HG02004.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0224 a0001c0001t0006g0216 |
2 | 289 | 0.0069 | 780 | c.269 others(799): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399854 | A | ACTCTTAG others(773): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0206 | 1 | 289 | 0.0035 | 780 | c.269 others(799): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(773): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0147 | 1 | 275 | 0.0036 | 780 | c.278 others(799): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(773): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0148 | 1 | 275 | 0.0036 | 780 | c.278 others(799): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar |