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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPG11_chr15_44557696_44668662 | 44660621 | GA | G | splice_region_variant others(1): Show |
LOW | HG02970.hp1 HG03098.hp1 HG03130.hp2 others(3): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0001 | a0002c0002t0001g0176 a0002c0002t0001g0177 a0006c0006t0001g0043 others(3): Show |
6 | 190 | 0.0316 | -1 | c.258 others(6): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 1/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44662650 | TA | T | intron_variant | MODIFIER | HG01069.hp1 HG02572.hp2 HG03098.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(4): Show |
7 | 190 | 0.0368 | -1 | c.257 others(8): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 1/39 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64958493 | GA | G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030 a0001c0001t0006g0083 a0001c0001t0006g0084 others(1): Show |
5 | 352 | 0.0142 | -1 | c.*51 others(6): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 4528 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64961658 | GA | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(208): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(111): Show |
211 | 352 | 0.5994 | -1 | c.*19 others(6): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 1363 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64962150 | TA | T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030 a0001c0001t0006g0083 a0001c0001t0006g0084 others(1): Show |
5 | 352 | 0.0142 | -1 | c.*14 others(6): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 871 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64964797 | AT | A | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030 a0001c0001t0006g0083 a0001c0001t0006g0084 others(1): Show |
5 | 352 | 0.0142 | -1 | c.810 others(8): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64966985 | AT | A | intron_variant | MODIFIER | HG01109.hp1 HG02083.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0072 others(4): Show |
7 | 352 | 0.0199 | -1 | c.670 others(9): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 7/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64968340 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0128 a0001c0001t0003g0095 a0001c0001t0004g0007 others(2): Show |
10 | 352 | 0.0284 | -1 | c.669 others(8): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 7/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64972879 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0002g0022 others(41): Show |
76 | 352 | 0.2159 | -1 | c.452 others(9): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 5/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64974099 | AG | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0011 a0001c0001t0004g0044 others(3): Show |
16 | 352 | 0.0455 | -1 | c.452 others(8): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 5/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64975287 | TA | T | intron_variant | MODIFIER | HG02896.hp1 HG02976.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(3): Show |
6 | 352 | 0.0171 | -1 | c.307 others(8): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64975527 | CA | C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01169.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0172 a0001c0001t0003g0047 a0001c0001t0003g0048 others(9): Show |
13 | 352 | 0.0369 | -1 | c.307 others(8): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64979845 | CA | C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01069.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0146 a0001c0001t0002g0027 a0001c0001t0003g0009 others(3): Show |
11 | 352 | 0.0313 | -1 | c.225 others(9): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64981289 | CT | C | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0161 a0001c0001t0006g0030 a0001c0001t0006g0083 others(2): Show |
6 | 352 | 0.0171 | -1 | c.64- others(7): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 2/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64982142 | CT | C | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 others(3): Show |
6 | 352 | 0.0171 | -1 | c.64- others(8): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 2/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64984349 | TG | T | intron_variant | MODIFIER | HG00735.hp2 HG02257.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0050 |
3 | 352 | 0.0085 | -1 | c.-24 others(8): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64988981 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG02109.hp2 HG02132.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(20): Show |
29 | 352 | 0.0824 | -1 | c.-25 others(8): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64992166 | CT | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01168.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0110 a0001c0001t0003g0047 a0001c0001t0003g0048 others(9): Show |
13 | 352 | 0.0369 | -1 | c.-25 others(6): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 2253 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64994131 | CT | C | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02897.hp2 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0003g0106 |
3 | 352 | 0.0085 | -1 | c.-44 others(6): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 4218 | chr15 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89503631 | AC | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(184): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(182): Show |
187 | 358 | 0.5224 | -1 | c.-47 others(6): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 4771 | chr16 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89503684 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(95): Show |
a0001a0003a0008 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0042 others(94): Show |
98 | 358 | 0.2737 | -1 | c.-47 others(6): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 4718 | chr16 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89504418 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(45): Show |
a0001a0002a0006 | a0001c0001a0001c0019a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0147 others(44): Show |
48 | 358 | 0.1341 | -1 | c.-39 others(6): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 3984 | chr16 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89509786 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(167): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(165): Show |
170 | 358 | 0.4749 | -1 | c.184 others(8): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89510471 | GT | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(176): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(174): Show |
179 | 358 | 0.5000 | -1 | c.184 others(6): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89513761 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(346): Show |
355 | 358 | 0.9916 | -1 | c.376 others(8): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89514308 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 others(97): Show |
102 | 358 | 0.2849 | -1 | c.376 others(9): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89514935 | CT | C | intron_variant | MODIFIER | HG01081.hp1 HG01433.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0005t0009others(1): Show | a0001c0001t0001g0084 a0001c0001t0001g0162 a0001c0001t0001g0183 others(10): Show |
13 | 358 | 0.0363 | -1 | c.376 others(9): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89517616 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00673.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0067 others(44): Show |
48 | 358 | 0.1341 | -1 | c.376 others(9): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89519594 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(183): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(181): Show |
186 | 358 | 0.5196 | -1 | c.377 others(9): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89520710 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(184): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(182): Show |
187 | 358 | 0.5224 | -1 | c.377 others(9): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89533073 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(83): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(80): Show |
86 | 358 | 0.2402 | -1 | c.132 others(9): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89536624 | AG | A | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG02970.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0231 a0003c0003t0002g0232 a0003c0003t0002g0233 others(1): Show |
4 | 358 | 0.0112 | -1 | c.132 others(10): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89542941 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG01167.hp2 HG01168.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0085 others(7): Show |
10 | 358 | 0.0279 | -1 | c.132 others(10): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89543347 | CT | C | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp2 HG01257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0136 others(5): Show |
8 | 358 | 0.0224 | -1 | c.132 others(10): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89543649 | CT | C | intron_variant | MODIFIER | HG01943.hp1 HG02895.hp2 NA18941.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0119 others(3): Show |
6 | 358 | 0.0168 | -1 | c.132 others(9): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89546571 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(76): Show |
84 | 358 | 0.2346 | -1 | c.145 others(8): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89555084 | CT | C | intron_variant | MODIFIER | HG01515.hp2 HG02735.hp1 HG02809.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0067 a0001c0001t0001g0111 a0001c0001t0001g0155 others(8): Show |
11 | 358 | 0.0307 | -1 | c.218 others(9): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89560190 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show |
a0001a0005a0006others(4): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(264): Show |
271 | 358 | 0.7570 | -1 | c.*30 others(6): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 2425 | chr16 | TogoVar | |||||||
SPHK1_chr17_76379609_76392855 | 76380071 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(11): Show |
76 | 412 | 0.1845 | -1 | c.-49 others(6): Show |
SPHK1 | ENSG00000176170.14 | transcript | ENST00000592299.6 | protein_coding | 4537 | chr17 | TogoVar | |||||||
SPHK1_chr17_76379609_76392855 | 76380372 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0004g0005 others(2): Show |
61 | 412 | 0.1481 | -1 | c.-46 others(6): Show |
SPHK1 | ENSG00000176170.14 | transcript | ENST00000592299.6 | protein_coding | 4236 | chr17 | TogoVar | |||||||
SPHK1_chr17_76379609_76392855 | 76388640 | CT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01255.hp2 HG01884.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(5): Show |
37 | 412 | 0.0898 | -1 | c.*10 others(6): Show |
SPHK1 | ENSG00000176170.14 | transcript | ENST00000592299.6 | protein_coding | 786 | chr17 | TogoVar | |||||||
SPHK1_chr17_76379609_76392855 | 76389030 | AG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 412 | 0.0073 | -1 | c.*14 others(6): Show |
SPHK1 | ENSG00000176170.14 | transcript | ENST00000592299.6 | protein_coding | 1176 | chr17 | TogoVar | |||||||
SPHK1_chr17_76379609_76392855 | 76389509 | AC | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp2 others(140): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0001 others(14): Show |
143 | 412 | 0.3471 | -1 | c.*19 others(6): Show |
SPHK1 | ENSG00000176170.14 | transcript | ENST00000592299.6 | protein_coding | 1655 | chr17 | TogoVar | |||||||
SPHK1_chr17_76379609_76392855 | 76391684 | AG | A | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 4 | 412 | 0.0097 | -1 | c.*40 others(6): Show |
SPHK1 | ENSG00000176170.14 | transcript | ENST00000592299.6 | protein_coding | 3830 | chr17 | TogoVar | |||||||
SPHK2_chr19_48614506_48635405 | 48620124 | AG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(394): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(147): Show |
397 | 398 | 0.9975 | -1 | c.-11 others(9): Show |
SPHK2 | ENSG00000063176.16 | transcript | ENST00000245222.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPHK2_chr19_48614506_48635405 | 48622258 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(130): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(51): Show |
133 | 398 | 0.3342 | -1 | c.39+ others(8): Show |
SPHK2 | ENSG00000063176.16 | transcript | ENST00000245222.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPHK2_chr19_48614506_48635405 | 48622272 | AT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(121): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0010others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(47): Show |
124 | 398 | 0.3116 | -1 | c.39+ others(8): Show |
SPHK2 | ENSG00000063176.16 | transcript | ENST00000245222.9 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
SPHK2_chr19_48614506_48635405 | 48623239 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01169.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0037 others(5): Show |
24 | 398 | 0.0603 | -1 | c.40- others(8): Show |
SPHK2 | ENSG00000063176.16 | transcript | ENST00000245222.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPHK2_chr19_48614506_48635405 | 48626813 | TC | T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00642.hp1 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0015 others(30): Show |
53 | 398 | 0.1332 | -1 | c.511 others(8): Show |
SPHK2 | ENSG00000063176.16 | transcript | ENST00000245222.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPHK2_chr19_48614506_48635405 | 48626815 | CA | C | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0096 a0001c0001t0001g0101 others(1): Show |
8 | 398 | 0.0201 | -1 | c.511 others(8): Show |
SPHK2 | ENSG00000063176.16 | transcript | ENST00000245222.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |