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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(413): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 30 | 0.0333 | 420 | c.*36 others(431): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(413): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 30 | 0.0333 | 420 | c.*36 others(431): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(413): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 30 | 0.0333 | 420 | c.*36 others(431): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(413): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 30 | 0.0333 | 420 | c.*36 others(431): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(413): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 30 | 0.0333 | 420 | c.*36 others(431): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(413): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 81 | 0.0123 | 420 | c.132 others(437): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAGGAA others(413): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 81 | 0.0123 | 420 | c.132 others(437): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646173 | G | GCCTCTCC others(413): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 118 | 0.0085 | 420 | c.-35 others(441): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646202 | T | TCCACCTC others(413): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0134 | 1 | 130 | 0.0077 | 420 | c.-35 others(441): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RNF139_chr8_124469880_124493618 | 124483108 | T | TATTATTT others(413): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 364 | 0.0027 | 420 | c.182 others(437): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80274638 | T | TGAGTGGG others(413): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0078 | a0078c0107 | a0078c0107t0023 | a0078c0107t0023g0081 | 1 | 238 | 0.0042 | 420 | c.261 others(437): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1077811 | G | GGGGAGGC others(413): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 276 | 0.0072 | 420 | c.-38 others(431): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 3506 | chr1 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078349 | G | GCCGGGAG others(413): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0008 | 1 | 250 | 0.0040 | 420 | c.-43 others(431): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4044 | chr1 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 272932 | A | ATCAGGGA others(413): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0005 | a0003c0005t0023 | a0003c0005t0023g0125 | 1 | 123 | 0.0081 | 420 | c.438 others(437): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 272967 | T | TGAGACCC others(413): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 58 | 0.0172 | 420 | c.438 others(437): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273611 | A | AGAGACCC others(413): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021 | 1 | 124 | 0.0081 | 420 | c.438 others(437): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80700730 | A | ATGATGGT others(413): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(31): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(30): Show | a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 others(31): Show |
34 | 41 | 0.8293 | 420 | c.349 others(437): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RRBP1_chr20_17608679_17687242 | 17659212 | G | GGCCTTCT others(413): Show |
disruptive_inframe_insertion | MODERATE | HG01993.hp2 | a0042 | a0042c0102 | a0042c0102t0001 | a0042c0102t0001g0101 | 1 | 35 | 0.0286 | 420 | c.129 others(429): Show |
p.Ala others(433): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 3/25 | 1608/5049 | 1295/4233 | 432/1410 | chr20 | TogoVar | |||
RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(413): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0223 | 1 | 158 | 0.0063 | 420 | c.494 others(439): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(413): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015 | a0001c0001t0001g0074 a0001c0001t0001g0166 a0001c0001t0007g0189 others(2): Show |
5 | 162 | 0.0309 | 420 | c.494 others(439): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59750591 | T | TATATCTA others(413): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0171 | 1 | 91 | 0.0110 | 420 | c.242 others(437): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750591 | T | TATATCTA others(413): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0107 | 1 | 91 | 0.0110 | 420 | c.242 others(437): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934209 | A | AGGCGGCT others(413): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 403 | 0.0025 | 420 | c.843 others(437): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934749 | G | GCGTTACA others(413): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0211 | 1 | 419 | 0.0024 | 420 | c.843 others(437): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934797 | A | AGGCGGCT others(413): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 374 | 0.0027 | 420 | c.843 others(435): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934904 | G | GGGGGGGG others(413): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 418 | 0.0024 | 420 | c.843 others(435): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(413): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18906.hp1 NA19043.hp2 |
a0002a0032a0034 | a0002c0013a0032c0075a0034c0052 | a0002c0013t0015a0032c0075t0008a0034c0052t0032 | a0002c0013t0015g0024 a0032c0075t0008g0015 a0034c0052t0032g0107 |
3 | 47 | 0.0638 | 420 | c.332 others(439): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(413): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 39 | 0.0256 | 420 | c.115 others(437): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC35F1_chr6_117902264_118322671 | 117923611 | A | ATATGTAC others(413): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 155 | 0.0065 | 420 | c.173 others(439): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117923611 | A | ATATGTAC others(413): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0124 | 1 | 155 | 0.0065 | 420 | c.173 others(439): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117923611 | A | ATATGTAC others(413): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 155 | 0.0065 | 420 | c.173 others(439): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117923611 | A | ATATGTAC others(413): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 155 | 0.0065 | 420 | c.173 others(439): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117923611 | A | ATATGTAC others(413): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0146 | 1 | 155 | 0.0065 | 420 | c.173 others(439): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117924143 | A | ATATATAC others(413): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01934.hp1 HG02074.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0003g0085 a0001c0001t0003g0095 a0001c0001t0004g0103 others(8): Show |
11 | 91 | 0.1209 | 420 | c.173 others(439): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234248309 | C | CCATTGTT others(413): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 109 | 0.0092 | 420 | c.608 others(439): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234248309 | C | CCATTGTT others(413): Show |
intron_variant | MODIFIER | HG01516.hp1 HG03492.hp1 HG04204.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0083 a0001c0002t0004g0021 a0001c0002t0004g0023 |
3 | 111 | 0.0270 | 420 | c.608 others(439): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234248309 | C | CCATTGTT others(413): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0056 others(20): Show |
23 | 131 | 0.1756 | 420 | c.608 others(439): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234248309 | C | CCATTGTT others(413): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 109 | 0.0092 | 420 | c.608 others(439): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234248309 | C | CCATTGTT others(413): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0014g0087 |
3 | 111 | 0.0270 | 420 | c.608 others(439): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234248309 | C | CCATTGTT others(413): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 | 1 | 109 | 0.0092 | 420 | c.608 others(439): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234248309 | C | CCATTGTT others(413): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0141 | 1 | 109 | 0.0092 | 420 | c.608 others(439): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221785 | C | CTTTGTCC others(413): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03239.hp1 |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0005t0001 | a0002c0003t0001g0109 a0002c0005t0001g0133 |
2 | 172 | 0.0116 | 420 | c.719 others(439): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222599 | C | CTGGAGGT others(413): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0107 | 1 | 158 | 0.0063 | 420 | c.719 others(439): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222814 | G | GGTGCTGG others(413): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0007 | 1 | 186 | 0.0054 | 420 | c.719 others(439): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222816 | T | TGCTGGAT others(413): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0033 | 1 | 184 | 0.0054 | 420 | c.719 others(439): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222839 | C | CGGTGCAG others(413): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0029 | 1 | 66 | 0.0152 | 420 | c.719 others(439): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48384325 | G | GGAGGGAG others(413): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 283 | 0.0035 | 420 | c.909 others(435): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(413): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 12 | 0.0833 | 420 | c.*34 others(429): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(413): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0190 | 1 | 6 | 0.1667 | 420 | c.138 others(439): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109041 | C | CTTATATA others(413): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 69 | 0.0145 | 420 | c.190 others(439): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar |