| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(208): Show | 280 | 446 | 0.6278 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | TogoVar | ||
| PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(332): Show | 337 | 376 | 0.8963 | 1 | c.-24 others(6): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PLXNB3_chrX_153759249_153784341 | 153774448 | T | TG | frameshift_variant | HIGH | NA19058.hp1 | a0015 | a0015c0037 | a0015c0037t0008 | a0015c0037t0008g0112 | 1 | 308 | 0.0033 | 1 | c.371 others(5): Show |
p.Val others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 22/36 | 3832/6153 | 3711/5730 | 1237/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PLXNB3_chrX_153759249_153784341 | 153776007 | CG | C | frameshift_variant | HIGH | NA19058.hp1 | a0015 | a0015c0037 | a0015c0037t0008 | a0015c0037t0008g0112 | 1 | 308 | 0.0033 | -1 | c.452 others(5): Show |
p.Glu others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 27/36 | 4646/6153 | 4525/5730 | 1509/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PLXNB3_chrX_153759249_153784341 | 153777235 | A | AG | frameshift_variant | HIGH | HG02572.hp1 HG04184.hp2 NA19058.hp1 others(2): Show |
a0011a0015a0017others(1): Show | a0011c0017a0015c0037a0017c0035others(1): Show | a0011c0017t0001a0015c0037t0008a0017c0035t0001others(1): Show | a0011c0017t0001g0058a0011c0017t0001g0073a0015c0037t0008g0112others(2): Show | 5 | 308 | 0.0162 | 1 | c.496 others(5): Show |
p.Val others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 30/36 | 5085/6153 | 4964/5730 | 1655/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PLXNB3_chrX_153759249_153784341 | 153777346 | CG | C | frameshift_variant | HIGH | NA19058.hp1 | a0015 | a0015c0037 | a0015c0037t0008 | a0015c0037t0008g0112 | 1 | 308 | 0.0033 | -1 | c.506 others(5): Show |
p.Glu others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 30/36 | 5189/6153 | 5068/5730 | 1690/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0005others(36): Show | a0002c0002a0003c0003a0005c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0005c0005t0002others(47): Show | a0002c0002t0002g0008a0002c0002t0002g0049a0002c0002t0002g0050others(99): Show | 128 | 422 | 0.3033 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 1/10 | 50/2195 | 1/2013 | 1/670 | chr19 | TogoVar | ||
| PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0022others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0034others(62): Show | 245 | 417 | 0.5875 | 0 | c.758 others(3): Show |
p.Trp others(4): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 3/4 | 831/1518 | 758/1425 | 253/474 | chr1 | TogoVar | ||
| PRB4_chr12_11302077_11315436 | 11308289 | G | A | stop_gained | HIGH | HG02027.hp1 NA18939.hp1 NA18942.hp1 others(4): Show |
a0007a0009 | a0007c0008a0009c0009 | a0007c0008t0001a0009c0009t0001 | a0007c0008t0001g0015a0009c0009t0001g0019 | 7 | 451 | 0.0155 | 0 | c.694 others(3): Show |
p.Gln others(4): Show |
PRB4 | ENSG00000230657.8 | transcript | ENST00000279575.7 | protein_coding | 3/4 | 732/923 | 694/744 | 232/247 | chr12 | TogoVar | ||
| PRKX_chrX_3599340_3718649 | 3655179 | TC | T | frameshift_variant | HIGH | NA19058.hp1 | a0004 | a0004c0006 | a0004c0006t0034 | a0004c0006t0034g0001 | 1 | 227 | 0.0044 | -1 | c.568 others(4): Show |
p.Asp others(5): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 3/9 | 964/6102 | 568/1077 | 190/358 | chrX | TogoVar | ||
| PRPF3_chr1_150316533_150358233 | 150324880 | C | CTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(297): Show | 306 | 362 | 0.8453 | 4 | c.-48 others(15): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRR23D1_chr8_7534627_7547450 | 7541827 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(2): Show | a0000c0001t0003a0000c0001t0004a0000c0001t0006others(8): Show | a0000c0001t0003g0001a0000c0001t0003g0012a0000c0001t0004g0001others(11): Show | 60 | 166 | 0.3615 | -1 | c.790 others(4): Show |
p.Val others(5): Show |
PRR23D1 | ENSG00000255251.2 | transcript | ENST00000533250.2 | protein_coding | 4/4 | 968/1588 | 790/840 | 264/279 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
| PRSS48_chr4_151272161_151296862 | 151279866 | G | GCAGGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(87): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0002a0002c0004t0001g0012a0002c0004t0001g0013others(21): Show | 90 | 428 | 0.2103 | 5 | c.127 others(12): Show |
p.Ser others(4): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 2/5 | 144/1408 | 132/987 | 44/328 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0005others(4): Show | a0000c0001t0002a0000c0001t0004a0000c0001t0005others(6): Show | a0000c0001t0002g0001a0000c0001t0002g0008a0000c0001t0002g0010others(100): Show | 325 | 428 | 0.7594 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | ||
| PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(373): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(319): Show | 376 | 416 | 0.9039 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar | ||
| PTPN23_chr3_47376021_47418435 | 47410831 | A | AC | frameshift_variant | HIGH | HG00140.hp2 HG00597.hp1 HG00738.hp2 others(33): Show |
a0005a0006 | a0005c0007a0005c0010a0005c0029others(7): Show | a0005c0007t0001a0005c0010t0001a0005c0029t0001others(7): Show | a0005c0007t0001g0001a0005c0007t0001g0008a0005c0007t0001g0016others(31): Show | 36 | 332 | 0.1084 | 1 | c.304 others(5): Show |
p.Leu others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3117/5237 | 3041/4911 | 1014/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| PTPN3_chr9_109370700_109503307 | 109382370 | GTCGGAGG others(3): Show |
G | frameshift_variant | HIGH | NA19058.hp2 | a0008 | a0008c0014 | a0008c0014t0016 | a0008c0014t0016g0022 | 1 | 290 | 0.0035 | -10 | c.245 others(19): Show |
p.Asp others(5): Show |
PTPN3 | ENSG00000070159.14 | transcript | ENST00000374541.4 | protein_coding | 24/26 | 2565/6704 | 2450/2742 | 817/913 | chr9 | TogoVar | ||
| PTTG1IP2_chr7_90464639_90518397 | 90487326 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0235others(58): Show | 72 | 384 | 0.1875 | 0 | c.193 others(5): Show |
PTTG1IP2 | ENSG00000251154.2 | transcript | ENST00000509356.2 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
| PVRIG_chr7_100214949_100226490 | 100221165 | AGGCCTCC others(13): Show |
A | frameshift_variant | HIGH | NA19058.hp2 | a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0003 | 1 | 394 | 0.0025 | -20 | c.842 others(27): Show |
p.Pro others(5): Show |
PVRIG | ENSG00000213413.3 | transcript | ENST00000699088.1 | protein_coding | 5/5 | 864/1182 | 842/921 | 281/306 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| PYGL_chr14_50900217_50949483 | 50911872 | CT | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0010a0001c0001t0002g0100a0001c0001t0002g0114others(188): Show | 253 | 390 | 0.6487 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | ||||||
| RBMXL3_chrX_115184410_115197868 | 115191511 | T | TG | frameshift_variant | HIGH | NA19058.hp1 | a0037 | a0037c0062 | a0037c0062t0001 | a0037c0062t0001g0000 | 1 | 314 | 0.0032 | 1 | c.207 others(5): Show |
p.His others(5): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 1/1 | 2108/3459 | 2076/3204 | 692/1067 | INFO_REALIGN_3_PRIME | chrX | 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 | |
| RNF17_chr13_24759169_24884921 | 24850445 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00673.hp2 HG01943.hp1 HG01993.hp2 others(32): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0001a0005c0005t0001g0026a0005c0005t0001g0095others(31): Show | 35 | 426 | 0.0822 | 0 | c.320 others(6): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 23/35 | chr13 | TogoVar | ||||||
| SCAPER_chr15_76342904_76910340 | 76883817 | T | C | start_lost | HIGH | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0022a0003c0003others(5): Show | a0002c0002t0002a0002c0022t0002a0003c0003t0002others(9): Show | a0002c0002t0002g0190a0002c0002t0002g0194a0002c0002t0002g0219others(114): Show | 117 | 312 | 0.3750 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/32 | 102/5033 | 1/4203 | 1/1400 | chr15 | 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 | |
| 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 | ||
| SERPINB7_chr18_63770418_63810370 | 63804288 | C | T | stop_gained | HIGH | NA19002.hp2 NA19006.hp1 NA19058.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0243a0004c0006t0001g0319a0004c0006t0001g0326 | 3 | 432 | 0.0069 | 0 | c.796 others(3): Show |
p.Arg others(4): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 8/8 | 1113/2195 | 796/1143 | 266/380 | chr18 | TogoVar | ||
| SKIC2_chr6_31954175_31974751 | 31968869 | A | C | splice_acceptor_variant others(1): Show |
HIGH | NA19058.hp2 | a0011 | a0011c0024 | a0011c0024t0002 | a0011c0024t0002g0070 | 1 | 453 | 0.0022 | 0 | c.318 others(6): Show |
SKIC2 | ENSG00000204351.13 | transcript | ENST00000375394.7 | protein_coding | 25/27 | chr6 | TogoVar | ||||||
| SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0017a0002c0002others(14): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(263): Show | 268 | 366 | 0.7322 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | 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 | |||
| SLC5A9_chr1_48217716_48253638 | 48242556 | G | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00639.hp2 others(35): Show |
a0003a0011 | a0003c0003a0003c0008a0011c0022 | a0003c0003t0001a0003c0003t0002a0003c0008t0002others(1): Show | a0003c0003t0001g0004a0003c0003t0002g0004a0003c0003t0002g0019others(24): Show | 38 | 420 | 0.0905 | 0 | c.177 others(4): Show |
p.Glu others(4): Show |
SLC5A9 | ENSG00000117834.13 | transcript | ENST00000438567.7 | protein_coding | 13/14 | 1798/3162 | 1777/2046 | 593/681 | chr1 | 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 | ||
| SLC7A13_chr8_86209063_86235381 | 86214405 | TCCGACAT others(1): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show |
a0000 | a0000c0002a0000c0015a0000c0024 | a0000c0002t0002a0000c0015t0002a0000c0024t0002 | a0000c0002t0002g0002a0000c0002t0002g0008a0000c0002t0002g0012others(18): Show | 95 | 428 | 0.2220 | -8 | c.141 others(15): Show |
p.Ter others(5): Show |
SLC7A13 | ENSG00000164893.9 | transcript | ENST00000297524.8 | protein_coding | 4/4 | 1524/1867 | 1413/1413 | 471/470 | chr8 | TogoVar | ||
| SLFN13_chr17_35430096_35453766 | 35445639 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show |
a0002 | a0002c0002a0002c0014a0002c0023others(6): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0011others(17): Show | a0002c0002t0003g0003a0002c0002t0003g0022a0002c0002t0003g0060others(25): Show | 59 | 456 | 0.1294 | 0 | c.42C others(2): Show |
p.Tyr others(3): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 3/6 | 247/8398 | 42/2694 | 14/897 | chr17 | TogoVar | ||
| SMAD5_chr5_136127845_136187733 | 136147819 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0009others(108): Show | 140 | 294 | 0.4762 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | 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 | ||
| SPATA45_chr1_212825141_212852649 | 212836041 | G | A | stop_gained | HIGH | HG00423.hp1 HG00673.hp1 HG02015.hp2 others(14): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0005a0003c0003t0001g0031a0003c0003t0001g0185others(4): Show | 17 | 402 | 0.0423 | 0 | c.109 others(3): Show |
p.Arg others(3): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 2/3 | 217/506 | 109/297 | 37/98 | chr1 | 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 | |
| SRPK3_chrX_153776041_153790730 | 153781245 | CG | C | frameshift_variant | HIGH | NA19058.hp1 | a0006 | a0006c0011 | a0006c0011t0008 | a0006c0011t0008g0019 | 1 | 307 | 0.0033 | -1 | c.92d others(3): Show |
p.Gly others(4): Show |
SRPK3 | ENSG00000184343.11 | transcript | ENST00000370101.8 | protein_coding | 2/15 | 138/1960 | 92/1704 | 31/567 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| SRPK3_chrX_153776041_153790730 | 153783993 | CG | C | frameshift_variant | HIGH | NA18941.hp2 NA19058.hp1 |
a0006a0015 | a0006c0011a0015c0017 | a0006c0011t0008a0015c0017t0005 | a0006c0011t0008g0019a0015c0017t0005g0027 | 2 | 307 | 0.0065 | -1 | c.932 others(4): Show |
p.Gly others(5): Show |
SRPK3 | ENSG00000184343.11 | transcript | ENST00000370101.8 | protein_coding | 10/15 | 978/1960 | 932/1704 | 311/567 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| SRPK3_chrX_153776041_153790730 | 153784026 | T | TC | frameshift_variant | HIGH | NA19058.hp1 | a0006 | a0006c0011 | a0006c0011t0008 | a0006c0011t0008g0019 | 1 | 307 | 0.0033 | 1 | c.961 others(4): Show |
p.His others(5): Show |
SRPK3 | ENSG00000184343.11 | transcript | ENST00000370101.8 | protein_coding | 10/15 | 1008/1960 | 962/1704 | 321/567 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| SRPK3_chrX_153776041_153790730 | 153784174 | TC | T | frameshift_variant | HIGH | NA19058.hp1 | a0006 | a0006c0011 | a0006c0011t0008 | a0006c0011t0008g0019 | 1 | 307 | 0.0033 | -1 | c.111 others(5): Show |
p.Asn others(5): Show |
SRPK3 | ENSG00000184343.11 | transcript | ENST00000370101.8 | protein_coding | 10/15 | 1156/1960 | 1110/1704 | 370/567 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| SYN1_chrX_47566901_47624857 | 47574199 | T | TG | frameshift_variant | HIGH | NA19058.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0055 | 1 | 282 | 0.0036 | 1 | c.178 others(5): Show |
p.Gly others(5): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 12/13 | 1913/3210 | 1784/2118 | 595/705 | chrX | TogoVar | ||
| SYN1_chrX_47566901_47624857 | 47574252 | A | AG | frameshift_variant | HIGH | NA19058.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0055 | 1 | 282 | 0.0036 | 1 | c.173 others(5): Show |
p.Ser others(5): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 12/13 | 1860/3210 | 1731/2118 | 577/705 | chrX | TogoVar | ||
| SYN1_chrX_47566901_47624857 | 47575172 | G | GC | frameshift_variant | HIGH | NA19058.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0055 | 1 | 282 | 0.0036 | 1 | c.126 others(5): Show |
p.Gln others(5): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 10/13 | 1389/3210 | 1260/2118 | 420/705 | chrX | TogoVar | ||
| TAAR9_chr6_132533277_132544336 | 132538470 | A | T | stop_gained | HIGH | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(71): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0000a0002c0006t0001g0000 | 74 | 430 | 0.1721 | 0 | c.181 others(3): Show |
p.Lys others(3): Show |
TAAR9 | ENSG00000237110.3 | transcript | ENST00000434551.3 | protein_coding | 1/1 | 194/1060 | 181/1047 | 61/348 | chr6 | TogoVar | ||
| TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002a0011 | a0002c0002a0002c0006a0011c0007 | a0002c0002t0000a0002c0006t0000a0011c0007t0000 | a0002c0002t0000g0000a0002c0006t0000g0000a0011c0007t0000g0000 | 150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | TogoVar |