| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RBMY1A1_chrY_21529879_21554326 | 21547071 | G | GC | frameshift_variant | HIGH | HG03710.hp1 | a0020 | a0020c0009 | a0020c0009t0002 | a0020c0009t0002g0060 | 1 | 64 | 0.0156 | 1 | c.934 others(4): Show |
p.His others(5): Show |
RBMY1A1 | ENSG00000234414.8 | transcript | ENST00000382707.6 | protein_coding | 9/12 | 1087/1921 | 935/1491 | 312/496 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
| RBMY1A1_chrY_21529879_21554326 | 21548323 | G | GC | frameshift_variant | HIGH | HG03710.hp1 | a0020 | a0020c0009 | a0020c0009t0002 | a0020c0009t0002g0060 | 1 | 64 | 0.0156 | 1 | c.117 others(5): Show |
p.Leu others(5): Show |
RBMY1A1 | ENSG00000234414.8 | transcript | ENST00000382707.6 | protein_coding | 11/12 | 1331/1921 | 1179/1491 | 393/496 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
| RBMY1A1_chrY_21529879_21554326 | 21548748 | A | AG | frameshift_variant others(1): Show |
HIGH | HG03710.hp1 | a0020 | a0020c0009 | a0020c0009t0002 | a0020c0009t0002g0060 | 1 | 64 | 0.0156 | 1 | c.119 others(5): Show |
p.Thr others(5): Show |
RBMY1A1 | ENSG00000234414.8 | transcript | ENST00000382707.6 | protein_coding | 12/12 | 1347/1921 | 1195/1491 | 399/496 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
| RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(111): Show | 147 | 378 | 0.3889 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | ||||||
| RETNLB_chr3_108750638_108762410 | 108757146 | G | GGGGGATT others(1): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0007a0004c0004t0004g0021 | 19 | 452 | 0.0420 | 8 | c.32_ others(13): Show |
p.Leu others(4): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 1/3 | 264/701 | 39/336 | 13/111 | chr3 | TogoVar | ||
| RFPL1_chr22_29433583_29447455 | 29441895 | C | T | stop_gained | HIGH | HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show |
a0003a0005a0011 | a0003c0003a0005c0009a0011c0012 | a0003c0003t0003a0005c0009t0003a0011c0012t0003 | a0003c0003t0003g0005a0003c0003t0003g0008a0003c0003t0003g0014others(4): Show | 35 | 444 | 0.0788 | 0 | c.727 others(3): Show |
p.Gln others(4): Show |
RFPL1 | ENSG00000128250.5 | transcript | ENST00000354373.2 | protein_coding | 2/2 | 936/1496 | 727/954 | 243/317 | chr22 | TogoVar | ||
| RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| RNASEH2B_chr13_50904791_50961762 | 50956450 | T | TA | frameshift_variant | HIGH | HG02055.hp2 HG02559.hp1 HG02698.hp1 others(8): Show |
a0000 | a0000c0002 | a0000c0002t0002 | a0000c0002t0002g0037a0000c0002t0002g0041a0000c0002t0002g0042others(5): Show | 11 | 384 | 0.0287 | 1 | c.925 others(4): Show |
p.Ile others(5): Show |
RNASEH2B | ENSG00000136104.21 | transcript | ENST00000336617.8 | protein_coding | 11/11 | 1212/1513 | 926/939 | 309/312 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
| RPGR_chrX_38279408_38332509 | 38285548 | A | AC | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | 1 | c.345 others(10): Show |
p.Leu others(6): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3592/4733 | 3450/3459 | 1150/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38285660 | T | TC | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | 1 | c.333 others(5): Show |
p.Asn others(6): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3480/4733 | 3338/3459 | 1113/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38285681 | CT | C | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | -1 | c.331 others(5): Show |
p.Lys others(6): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3459/4733 | 3317/3459 | 1106/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38285734 | T | TC | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | 1 | c.326 others(5): Show |
p.Ser others(6): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3406/4733 | 3264/3459 | 1088/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38285768 | AT | A | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | -1 | c.323 others(5): Show |
p.Asn others(6): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3372/4733 | 3230/3459 | 1077/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38285864 | T | TTC | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | 2 | c.313 others(11): Show |
p.Arg others(6): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3276/4733 | 3134/3459 | 1045/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38285950 | CT | C | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | -1 | c.304 others(5): Show |
p.Glu others(6): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3190/4733 | 3048/3459 | 1016/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38286054 | T | TC | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | 1 | c.294 others(5): Show |
p.Glu others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3086/4733 | 2944/3459 | 982/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38286124 | CT | C | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | -1 | c.287 others(5): Show |
p.Glu others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3016/4733 | 2874/3459 | 958/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38286241 | T | TC | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | 1 | c.275 others(5): Show |
p.Lys others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 2899/4733 | 2757/3459 | 919/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38286751 | CT | C | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | -1 | c.224 others(5): Show |
p.Glu others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 2389/4733 | 2247/3459 | 749/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38286796 | GCT | G | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | -2 | c.220 others(11): Show |
p.Glu others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 2344/4733 | 2201/3459 | 734/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38286809 | T | TC | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | 1 | c.218 others(5): Show |
p.Gly others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 2331/4733 | 2189/3459 | 730/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38286860 | CT | C | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | -1 | c.213 others(5): Show |
p.Lys others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 2280/4733 | 2138/3459 | 713/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38286971 | C | CCT | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | 2 | c.202 others(11): Show |
p.Glu others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 2169/4733 | 2027/3459 | 676/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38287042 | CT | C | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | -1 | c.195 others(5): Show |
p.Gly others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 2098/4733 | 1956/3459 | 652/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38287155 | A | AC | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | 1 | c.184 others(5): Show |
p.Val others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 1985/4733 | 1843/3459 | 615/1152 | chrX | TogoVar | ||
| RPGR_chrX_38279408_38332509 | 38288022 | T | TC | frameshift_variant | HIGH | HG03710.hp1 | a0032 | a0032c0034 | a0032c0034t0014 | a0032c0034t0014g0152 | 1 | 302 | 0.0033 | 1 | c.159 others(5): Show |
p.Glu others(5): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 14/15 | 1733/4733 | 1591/3459 | 531/1152 | chrX | TogoVar | ||
| RXFP2_chr13_31734526_31808389 | 31786554 | T | TAA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(97): Show | 102 | 386 | 0.2643 | 2 | c.100 others(15): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SCART1_chr10_133448945_133474760 | 133457333 | TC | T | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show |
a0003a0004 | a0003c0003a0003c0007a0003c0008others(16): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(20): Show | a0003c0003t0003g0005a0003c0003t0003g0007a0003c0003t0003g0023others(62): Show | 93 | 434 | 0.2143 | -1 | c.444 others(4): Show |
p.Glu others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3/12 | 497/4929 | 444/3084 | 148/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| SCART1_chr10_133448945_133474760 | 133464740 | CTGGGGTG | C | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show |
a0003a0004a0009others(8): Show | a0003c0003a0003c0007a0003c0008others(24): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(28): Show | a0003c0003t0003g0005a0003c0003t0003g0007a0003c0003t0003g0023others(69): Show | 102 | 434 | 0.2350 | -7 | c.211 others(16): Show |
p.Val others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 7/12 | 2170/4929 | 2117/3084 | 706/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| SEMA6B_chr19_4537593_4564684 | 4552437 | G | GA | frameshift_variant | HIGH | HG02135.hp2 HG02615.hp1 HG03098.hp1 others(4): Show |
a0003 | a0003c0006a0003c0007 | a0003c0006t0002a0003c0006t0004a0003c0006t0020others(1): Show | a0003c0006t0002g0334a0003c0006t0002g0348a0003c0006t0004g0231others(4): Show | 7 | 440 | 0.0159 | 1 | c.973 others(4): Show |
p.Ser others(5): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 10/17 | 1160/3862 | 973/2667 | 325/888 | chr19 | TogoVar | ||
| SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0005others(18): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0014others(79): Show | 204 | 422 | 0.4834 | 0 | c.268 others(3): Show |
p.Glu others(3): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 4/8 | 330/1735 | 268/1179 | 90/392 | chr18 | TogoVar | ||
| SIGLEC11_chr19_49943985_49966172 | 49960562 | TAGAA | T | frameshift_variant | HIGH | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(62): Show |
a0004a0007a0012others(3): Show | a0004c0004a0004c0008a0004c0015others(16): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0005others(18): Show | a0004c0004t0001g0008a0004c0004t0001g0013a0004c0004t0001g0014others(33): Show | 65 | 452 | 0.1438 | -4 | c.446 others(11): Show |
p.Phe others(5): Show |
SIGLEC11 | ENSG00000161640.15 | transcript | ENST00000447370.6 | protein_coding | 2/11 | 540/3173 | 446/2097 | 149/698 | chr19 | TogoVar | ||
| SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0012others(92): Show | 229 | 432 | 0.5301 | 1 | c.196 others(4): Show |
p.Ala others(4): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 263/2269 | 196/1788 | 66/595 | chr19 | TogoVar | ||
| SLAIN1_chr13_77692687_77769229 | 77698132 | T | TGG | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 2 | c.220 others(9): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 449/3009 | 222/1773 | 74/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
| SLAIN1_chr13_77692687_77769229 | 77698141 | G | GC | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 1 | c.230 others(4): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 458/3009 | 231/1773 | 77/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
| SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(160): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0001a0002c0002t0002g0004a0002c0002t0002g0005others(95): Show | 163 | 402 | 0.4055 | 0 | c.288 others(3): Show |
p.Trp others(3): Show |
SLC22A10 | ENSG00000184999.13 | transcript | ENST00000332793.11 | protein_coding | 1/10 | 551/2638 | 288/1626 | 96/541 | chr11 | TogoVar | ||
| SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show |
a0002a0005a0006others(4): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0014others(30): Show | 173 | 428 | 0.4042 | -81 | c.103 others(93): Show |
p.Arg others(5): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 9/9 | 1117/1615 | 1035/1341 | 345/446 | chr16 | TogoVar | ||
| SLC22A31_chr16_89190761_89205537 | 89198106 | GGGGCCCC others(11): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(28): Show |
a0004a0017 | a0004c0006a0004c0009a0017c0022 | a0004c0006t0001a0004c0009t0001a0017c0022t0001 | a0004c0006t0001g0006a0004c0006t0001g0029a0004c0009t0001g0008others(1): Show | 31 | 428 | 0.0724 | -18 | c.920 others(28): Show |
p.Gln others(19): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 7/9 | 920/1341 | 307/446 | chr16 | TogoVar | |||
| SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0005g0001others(13): Show | 317 | 412 | 0.7694 | 0 | c.977 others(3): Show |
p.Trp others(4): Show |
SLC35G6 | ENSG00000259224.3 | transcript | ENST00000412468.4 | protein_coding | 2/2 | 1048/1583 | 977/1017 | 326/338 | chr17 | TogoVar | ||
| SLC6A18_chr5_1220381_1251189 | 1240642 | C | G | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(22): Show | a0001c0002t0001g0004a0001c0002t0001g0018a0001c0002t0001g0019others(157): Show | 181 | 456 | 0.3969 | 0 | c.957 others(3): Show |
p.Tyr others(4): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 7/12 | 1054/2095 | 957/1887 | 319/628 | chr5 | TogoVar | ||
| SNX27_chr1_151607050_151704080 | 151692406 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG01081.hp2 HG01167.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0003g0145a0001c0001t0003g0149a0001c0001t0007g0228others(11): Show | 14 | 366 | 0.0383 | 3 | c.124 others(16): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SON_chr21_33538038_33582481 | 33576378 | G | GA | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | 1 | c.723 others(5): Show |
p.Ala others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7292/8393 | 7237/7281 | 2413/2426 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
| SON_chr21_33538038_33582481 | 33576390 | GA | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | -1 | c.724 others(5): Show |
p.Arg others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7303/8393 | 7248/7281 | 2416/2426 | chr21 | TogoVar | ||
| SPATA2L_chr16_89691357_89706705 | 89697587 | A | AC | frameshift_variant | HIGH | HG01099.hp2 HG01109.hp2 HG01175.hp2 others(17): Show |
a0002 | a0002c0004a0002c0007a0002c0009others(1): Show | a0002c0004t0001a0002c0004t0003a0002c0004t0004others(5): Show | a0002c0004t0001g0019a0002c0004t0001g0060a0002c0004t0001g0072others(12): Show | 20 | 418 | 0.0479 | 1 | c.102 others(5): Show |
p.Val others(5): Show |
SPATA2L | ENSG00000158792.16 | transcript | ENST00000289805.10 | protein_coding | 3/3 | 1100/2331 | 1021/1275 | 341/424 | chr16 | TogoVar | ||
| SPATA31C1_chr9_87912962_87928657 | 87923373 | C | T | stop_gained | HIGH | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(39): Show |
a0005a0023a0024others(2): Show | a0005c0005a0005c0034a0023c0028others(3): Show | a0005c0005t0001a0005c0034t0001a0023c0028t0003others(3): Show | a0005c0005t0001g0003a0005c0005t0001g0005a0005c0005t0001g0023others(6): Show | 42 | 388 | 0.1083 | 0 | c.346 others(4): Show |
p.Arg others(5): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4/4 | 3495/3779 | 3466/3567 | 1156/1188 | chr9 | TogoVar | ||
| SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0012others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0017others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(50): Show | 131 | 460 | 0.2848 | 7 | c.514 others(14): Show |
p.Glu others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 4/9 | 1065/3286 | 521/1209 | 174/402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| SRSF3_chr6_36589362_36610600 | 36601940 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0001g0051others(85): Show | 98 | 382 | 0.2565 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| STAG2_chrX_123956706_124107656 | 124061743 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0052a0001c0001t0001g0071others(37): Show | 40 | 276 | 0.1449 | 3 | c.153 others(16): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SULT1C3_chr2_108234968_108265886 | 108259008 | AAAACTTG others(15): Show |
A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(53): Show |
a0003a0022a0024 | a0003c0002a0003c0031a0022c0022others(1): Show | a0003c0002t0001a0003c0002t0004a0003c0031t0004others(2): Show | a0003c0002t0001g0094a0003c0002t0001g0134a0003c0002t0004g0002others(19): Show | 56 | 376 | 0.1489 | -22 | c.669 others(29): Show |
p.Trp others(5): Show |
SULT1C3 | ENSG00000196228.5 | transcript | ENST00000681802.2 | protein_coding | 7/8 | 792/1244 | 669/915 | 223/304 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| SYNE2_chr14_63848004_64231433 | 63993818 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show |
a0001a0002a0003others(38): Show | a0001c0004a0001c0005a0001c0009others(51): Show | a0001c0004t0003a0001c0005t0001a0001c0005t0002others(59): Show | a0001c0004t0003g0071a0001c0005t0001g0030a0001c0005t0002g0044others(75): Show | 78 | 150 | 0.5200 | 1 | c.264 others(7): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 21/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |