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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PUM1_chr1_30926506_31070717 | 30938900 | TAGATAGA others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01081.hp2 others(30): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0003others(2): Show | a0001c0002t0001g0001 a0001c0002t0001g0025 a0001c0002t0001g0049 others(29): Show |
33 | 334 | 0.0988 | -20 | c.324 others(39): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 20/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30942191 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 | 1 | 334 | 0.0030 | -20 | c.299 others(35): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 18/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972269 | AAGGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0008a0001c0006t0008 | a0001c0001t0001g0204 a0001c0001t0008g0183 a0001c0006t0008g0008 |
3 | 334 | 0.0090 | -20 | c.150 others(39): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972274 | AAGGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 334 | 0.0030 | -20 | c.150 others(39): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972284 | AAGGGGAG others(13): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 a0001c0001t0003g0154 |
2 | 334 | 0.0060 | -20 | c.150 others(39): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972447 | GGAAGAGA others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00738.hp1 others(34): Show |
a0001a0004a0008 | a0001c0001a0004c0018a0008c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0188 others(34): Show |
37 | 334 | 0.1108 | -20 | c.150 others(39): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31011164 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(53): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0012a0002c0008others(2): Show | a0001c0002t0004a0001c0002t0023a0001c0012t0004others(3): Show | a0001c0002t0004g0002 a0001c0002t0004g0010 a0001c0002t0004g0170 others(52): Show |
56 | 334 | 0.1677 | -20 | c.433 others(37): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 3/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038956 | TTTTATAT others(13): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0104 | 1 | 334 | 0.0030 | -20 | c.364 others(39): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31067138 | GTATATAT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 334 | 0.0030 | -20 | c.-15 others(31): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 1422 | chr1 | TogoVar | |||||||
PUM2_chr2_20243737_20355844 | 20300500 | GTTGCTGG others(13): Show |
G | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 358 | 0.0028 | -20 | c.884 others(37): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 7/20 | chr2 | TogoVar | |||||||
PUM2_chr2_20243737_20355844 | 20336748 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01070.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(11): Show |
14 | 358 | 0.0391 | -20 | c.-18 others(37): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 1/20 | chr2 | TogoVar | |||||||
PUS7L_chr12_43713992_43763790 | 43718793 | AAAAAAAA others(13): Show |
A | downstream_gene_variant | MODIFIER | HG02083.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0065 | a0001c0001t0045g0091 a0001c0001t0065g0044 |
2 | 306 | 0.0065 | -20 | c.*11 others(33): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 198 | chr12 | TogoVar | |||||||
PVRIG_chr7_100214949_100226490 | 100221165 | AGGCCTCC others(13): Show |
A | frameshift_variant | HIGH | NA19058.hp2 | a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0003 | 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 | ||
PWP1_chr12_107680799_107718162 | 107686969 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 others(112): Show |
153 | 342 | 0.4474 | -20 | c.72+ others(35): Show |
PWP1 | ENSG00000136045.12 | transcript | ENST00000412830.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132397812 | GGTTTGGA others(13): Show |
G | intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0109 | 1 | 374 | 0.0027 | -20 | c.125 others(35): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132415234 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0023 | a0003c0023t0001 | a0003c0023t0001g0095 | 1 | 374 | 0.0027 | -20 | c.*17 others(37): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51486750 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | NA19003.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0082 | 1 | 122 | 0.0082 | -20 | c.453 others(37): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51486784 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01517.hp2 HG03486.hp1 |
a0006a0015 | a0006c0007a0015c0045 | a0006c0007t0001a0015c0045t0001 | a0006c0007t0001g0031 a0015c0045t0001g0061 |
2 | 122 | 0.0164 | -20 | c.453 others(37): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51486786 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00438.hp2 NA18959.hp2 NA18966.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 others(1): Show |
4 | 122 | 0.0328 | -20 | c.453 others(37): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51565309 | AATAAATA others(13): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02896.hp1 others(2): Show |
a0007a0031 | a0007c0006a0031c0043 | a0007c0006t0001a0031c0043t0001 | a0007c0006t0001g0042 a0007c0006t0001g0043 a0007c0006t0001g0045 others(2): Show |
5 | 122 | 0.0410 | -20 | c.309 others(37): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51565313 | AATAAATA others(13): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03486.hp1 HG03669.hp2 |
a0001a0002a0015 | a0001c0010a0002c0002a0015c0045 | a0001c0010t0002a0002c0002t0001a0015c0045t0001 | a0001c0010t0002g0100 a0002c0002t0001g0039 a0015c0045t0001g0061 |
3 | 122 | 0.0246 | -20 | c.309 others(37): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577987 | GAAAGAAA others(13): Show |
G | intron_variant | MODIFIER | HG02155.hp1 | a0022 | a0022c0019 | a0022c0019t0001 | a0022c0019t0001g0084 | 1 | 122 | 0.0082 | -20 | c.308 others(39): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577991 | GAAAGAAA others(13): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02922.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0072 a0002c0002t0001g0071 |
2 | 122 | 0.0164 | -20 | c.308 others(39): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577995 | GAAAGAGG others(13): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0033 | a0001c0033t0002 | a0001c0033t0002g0106 | 1 | 122 | 0.0082 | -20 | c.308 others(39): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577999 | GAGGAAGG others(13): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02717.hp2 others(1): Show |
a0007a0024a0028 | a0007c0006a0024c0044a0028c0027 | a0007c0006t0001a0024c0044t0003a0028c0027t0003 | a0007c0006t0001g0042 a0007c0006t0001g0043 a0024c0044t0003g0005 others(1): Show |
4 | 122 | 0.0328 | -20 | c.308 others(39): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51608002 | GAAGAAAG others(13): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0014 | a0014c0009 | a0014c0009t0001 | a0014c0009t0001g0088 | 1 | 122 | 0.0082 | -20 | c.237 others(39): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51744028 | GGGAAGGA others(13): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02559.hp2 HG02615.hp2 others(6): Show |
a0002a0006a0007 | a0002c0002a0006c0007a0007c0006 | a0002c0002t0001a0002c0002t0002a0006c0007t0001others(1): Show | a0002c0002t0001g0040 a0002c0002t0002g0104 a0002c0002t0002g0112 others(6): Show |
9 | 122 | 0.0738 | -20 | c.164 others(39): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1658027 | GCTCTCTC others(13): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG02145.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0002a0001c0003t0008a0001c0007t0006others(1): Show | a0001c0001t0002g0227 a0001c0003t0008g0304 a0001c0007t0006g0076 others(4): Show |
7 | 322 | 0.0217 | -20 | c.183 others(39): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 14/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703777 | GGGAGGGC others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01928.hp1 HG01981.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0175 a0001c0001t0001g0178 others(4): Show |
7 | 322 | 0.0217 | -20 | c.201 others(39): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1704011 | TAGGGGAC others(13): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp2 others(29): Show |
a0001a0004a0011others(2): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0225 others(29): Show |
32 | 322 | 0.0994 | -20 | c.201 others(39): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1704155 | GGGGGGGC others(13): Show |
G | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0180 | 1 | 322 | 0.0031 | -20 | c.201 others(39): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1743696 | AGGAAGGG others(13): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(158): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0169 others(158): Show |
161 | 322 | 0.5000 | -20 | c.200 others(35): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58336061 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0160 |
2 | 300 | 0.0067 | -20 | c.102 others(37): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132692763 | AGCTAGTT others(13): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0002a0002c0006t0002 | a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 others(5): Show |
8 | 350 | 0.0229 | -20 | c.236 others(37): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132692971 | AGCCAGTT others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01346.hp2 others(14): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0002a0002c0006t0002 | a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0048 others(7): Show |
17 | 350 | 0.0486 | -20 | c.236 others(37): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132693240 | CTCCCTTG others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00735.hp1 others(75): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0009 | a0001c0002t0002a0001c0002t0006a0001c0003t0003others(1): Show | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0022 others(29): Show |
78 | 350 | 0.2229 | -20 | c.237 others(37): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132694092 | AGCCAGTT others(13): Show |
A | intron_variant | MODIFIER | HG02004.hp2 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0022 |
2 | 350 | 0.0057 | -20 | c.237 others(37): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132694328 | TAGTTAGT others(13): Show |
T | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0103 | 1 | 350 | 0.0029 | -20 | c.237 others(37): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132694392 | TAGTTAGT others(13): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03471.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0005 | a0001c0002t0002g0075 a0001c0005t0005g0071 |
2 | 350 | 0.0057 | -20 | c.237 others(37): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP4_chr20_33697758_33725310 | 33722936 | GGCAACCA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0044 | 1 | 388 | 0.0026 | -20 | c.-27 others(31): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 2627 | chr20 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141268188 | AGAGAGAG others(13): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0232 | 1 | 384 | 0.0026 | -20 | c.79+ others(35): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141268190 | AGAGAGAG others(13): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0335 | 1 | 384 | 0.0026 | -20 | c.79+ others(35): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141268194 | AGAGAGAG others(13): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 384 | 0.0026 | -20 | c.79+ others(35): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141268196 | AGAGAGAG others(13): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03579.hp1 NA18906.hp1 |
a0001a0004 | a0001c0001a0001c0017a0004c0016 | a0001c0001t0010a0001c0017t0005a0004c0016t0003 | a0001c0001t0010g0333 a0001c0017t0005g0266 a0004c0016t0003g0267 |
3 | 384 | 0.0078 | -20 | c.79+ others(35): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PYCARD_chr16_31196486_31207760 | 31205946 | TTTTCTTT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0004 |
6 | 354 | 0.0170 | -20 | c.-32 others(31): Show |
PYCARD | ENSG00000103490.14 | transcript | ENST00000247470.10 | protein_coding | 3187 | chr16 | TogoVar | |||||||
PYDC1_chr16_31210962_31222135 | 31216894 | CCCGAGCG others(13): Show |
C | frameshift_variant | HIGH | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 346 | 0.0029 | -20 | c.115 others(27): Show |
p.Ile others(4): Show |
PYDC1 | ENSG00000169900.8 | transcript | ENST00000302964.4 | protein_coding | 1/2 | 241/589 | 115/270 | 39/89 | chr16 | TogoVar | |||
PYGO1_chr15_55533884_55593345 | 55548706 | CTAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0396 | 1 | 412 | 0.0024 | -20 | c.135 others(35): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55548707 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG03927.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0043 | a0001c0001t0007g0146 a0001c0001t0007g0363 a0001c0001t0043g0312 |
3 | 412 | 0.0073 | -20 | c.135 others(35): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55577578 | CTAAAACT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0001t0001g0056 others(354): Show |
369 | 412 | 0.8956 | -20 | c.49+ others(37): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
PYHIN1_chr1_158926552_158982059 | 158976868 | CTATATAT others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01346.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0008a0001c0001t0023a0002c0004t0008 | a0001c0001t0008g0028 a0001c0001t0008g0048 a0001c0001t0008g0063 others(3): Show |
6 | 398 | 0.0151 | -20 | c.*20 others(29): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 9/9 | 3131 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |