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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBPF14_chr1_148526385_148601011 | 148571234 | GACACACA others(3185): Show |
G | exon_loss_variant | HIGH | NA18973.hp2 | a0055 | a0055c0139 | a0055c0139t0001 | a0055c0139t0001g0192 | 1 | 222 | 0.0045 | -3192 | c.230 others(17): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 22/71 | chr1 | TogoVar | |||||||
NAV1_chr1_201534127_201831969 | 201586841 | AACACAAA others(3183): Show |
A | splice_acceptor_variant others(5): Show |
HIGH | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0015 | 1 | 210 | 0.0048 | -3190 | c.-14 others(18): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF14_chr1_148526385_148601011 | 148569436 | GTGGGAAA others(3182): Show |
G | exon_loss_variant | HIGH | HG02451.hp1 | a0107 | a0107c0041 | a0107c0041t0023 | a0107c0041t0023g0003 | 1 | 222 | 0.0045 | -3189 | c.258 others(15): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 24/71 | chr1 | TogoVar | |||||||
ZNF804B_chr7_88754700_89343528 | 89274364 | TGCGATCT others(3182): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02970.hp2 HG03471.hp1 |
a0006 | a0006c0008 | a0006c0008t0006 | a0006c0008t0006g0107 a0006c0008t0006g0110 a0006c0008t0006g0111 |
3 | 166 | 0.0181 | -3189 | c.250 others(19): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NBPF14_chr1_148526385_148601011 | 148569398 | CCTTTCTC others(3181): Show |
C | exon_loss_variant | HIGH | HG02523.hp2 | a0106 | a0106c0160 | a0106c0160t0009 | a0106c0160t0009g0219 | 1 | 222 | 0.0045 | -3188 | c.261 others(9): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 24/71 | 3313/10779 | chr1 | TogoVar | ||||||
MYOZ3_chr5_150656251_150684368 | 150679784 | CCAGCCTG others(3179): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0232 | 1 | 394 | 0.0025 | -3186 | c.*29 others(11): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 417 | chr5 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146069646 | TGAATAAC others(3179): Show |
T | exon_loss_variant | HIGH | HG00140.hp2 HG04204.hp2 |
a0159a0167 | a0159c0175a0167c0158 | a0159c0175t0003a0167c0158t0003 | a0159c0175t0003g0177 a0167c0158t0003g0176 |
2 | 283 | 0.0071 | -3186 | c.102 others(11): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 85/90 | 10741/13030 | chr1 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190019555 | GCTCATTA others(3173): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(80): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0004c0014others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0019others(14): Show | a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0173 others(80): Show |
83 | 304 | 0.2730 | -3180 | c.481 others(19): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122576410 | GGTTTGGC others(3172): Show |
G | exon_loss_variant | HIGH | HG03831.hp1 | a0054 | a0054c0113 | a0054c0113t0003 | a0054c0113t0003g0265 | 1 | 282 | 0.0036 | -3179 | c.323 others(7): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 8/56 | 340/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1013791 | CGCCTCCA others(3170): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG03710.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0003 | a0001c0003t0001g0025 a0002c0001t0003g0022 |
2 | 40 | 0.0500 | -3177 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GPR137B_chr1_236137539_236213907 | 236199573 | TTGTTATG others(3170): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0118 a0001c0001t0002g0116 |
2 | 386 | 0.0052 | -3177 | c.967 others(17): Show |
GPR137B | ENSG00000077585.14 | transcript | ENST00000366592.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149548199 | TCACTGGA others(3170): Show |
T | exon_loss_variant | HIGH | NA18984.hp2 | a0104 | a0104c0141 | a0104c0141t0001 | a0104c0141t0001g0123 | 1 | 276 | 0.0036 | -3177 | c.103 others(11): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 87/94 | 11130/13941 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STYXL1_chr7_75991342_76053000 | 76035312 | AATCTGAG others(3170): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01106.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(19): Show |
22 | 356 | 0.0618 | -3177 | c.-4- others(15): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164281887 | AAAATGTC others(3169): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG02293.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0002a0001c0009t0012 | a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0002t0002g0061 others(2): Show |
5 | 102 | 0.0490 | -3176 | c.-32 others(22): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
TIMMDC1_chr3_119493547_119530090 | 119505897 | ACAATTTG others(3169): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 2 | 428 | 0.0047 | -3176 | c.517 others(17): Show |
TIMMDC1 | ENSG00000113845.10 | transcript | ENST00000494664.6 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 25061006 | ATTGTTAG others(3167): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 116 | 0.0086 | -3174 | c.858 others(19): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149058885 | ACCAGGTG others(3162): Show |
A | exon_loss_variant | HIGH | NA19030.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0275 | 1 | 344 | 0.0029 | -3169 | c.225 others(15): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 26/30 | chr1 | TogoVar | |||||||
RASA4_chr7_102574646_102621756 | 102588790 | AAGTAGCT others(3162): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00733.hp2 HG01346.hp1 HG01517.hp1 others(12): Show |
a0006a0012a0029others(4): Show | a0006c0005a0006c0045a0012c0009others(5): Show | a0006c0005t0006a0006c0005t0008a0006c0005t0022others(9): Show | a0006c0005t0006g0103 a0006c0005t0006g0106 a0006c0005t0006g0109 others(12): Show |
15 | 130 | 0.1154 | -3169 | c.183 others(18): Show |
RASA4 | ENSG00000105808.19 | transcript | ENST00000262940.12 | protein_coding | 17/21 | chr7 | TogoVar | |||||||
NBPF9_chr1_149047186_149108551 | 149058873 | CCTATCTG others(3161): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(95): Show |
a0003a0004a0005others(11): Show | a0003c0003a0004c0004a0004c0008others(14): Show | a0003c0003t0002a0003c0003t0020a0003c0003t0039others(39): Show | a0003c0003t0002g0012 a0003c0003t0002g0243 a0003c0003t0002g0244 others(91): Show |
98 | 344 | 0.2849 | -3168 | c.225 others(15): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 26/30 | chr1 | TogoVar | |||||||
TRPC6_chr11_101446564_101589007 | 101506244 | GGCATCCC others(3161): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0002 | 2 | 252 | 0.0079 | -3168 | c.171 others(17): Show |
TRPC6 | ENSG00000137672.13 | transcript | ENST00000344327.8 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
NBPF9_chr1_149047186_149108551 | 149058935 | AAGAGCCA others(3160): Show |
A | exon_loss_variant | HIGH | HG02015.hp2 | a0022 | a0022c0035 | a0022c0035t0012 | a0022c0035t0012g0278 | 1 | 344 | 0.0029 | -3167 | c.224 others(9): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 25/30 | 3840/7899 | chr1 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149058986 | GGGCTGGC others(3160): Show |
G | exon_loss_variant | HIGH | HG01175.hp1 | a0029 | a0029c0038 | a0029c0038t0002 | a0029c0038t0002g0286 | 1 | 344 | 0.0029 | -3167 | c.219 others(9): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 25/30 | 3789/7899 | chr1 | TogoVar | ||||||
SLC24A4_chr14_92318165_92506481 | 92400251 | CAACATGG others(3160): Show |
C | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0181 | 1 | 282 | 0.0036 | -3167 | c.242 others(19): Show |
SLC24A4 | ENSG00000140090.18 | transcript | ENST00000532405.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149058946 | CAAGGTAC others(3157): Show |
C | exon_loss_variant | HIGH | HG03942.hp1 | a0030 | a0030c0039 | a0030c0039t0094 | a0030c0039t0094g0324 | 1 | 344 | 0.0029 | -3164 | c.223 others(9): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 25/30 | 3829/7899 | chr1 | TogoVar | ||||||
CEACAM1_chr19_42502306_42533481 | 42530321 | CGCGGTGG others(3153): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02723.hp2 HG03486.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0129 a0002c0003t0004g0130 a0002c0003t0004g0131 others(1): Show |
4 | 290 | 0.0138 | -3160 | c.-51 others(11): Show |
CEACAM1 | ENSG00000079385.23 | transcript | ENST00000161559.11 | protein_coding | 1841 | chr19 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1396378 | GAGTCGTG others(3153): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | -3160 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PSMA8_chr18_26128869_26198355 | 26183007 | GCTTGAAC others(3150): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG01361.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 others(24): Show |
27 | 268 | 0.1008 | -3157 | c.660 others(17): Show |
PSMA8 | ENSG00000154611.15 | transcript | ENST00000415576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HTRA1_chr10_122456553_122519907 | 122480198 | AGGCATTA others(3148): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG02735.hp1 HG03490.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0184 a0001c0001t0001g0322 a0002c0003t0001g0077 others(2): Show |
5 | 362 | 0.0138 | -3155 | c.473 others(17): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NDST4_chr4_114822763_115118620 | 115007563 | GGTGAGCT others(3147): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(75): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(75): Show |
78 | 190 | 0.4105 | -3154 | c.979 others(19): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129271187 | ATTTGTTA others(3143): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0066 | 1 | 94 | 0.0106 | -3150 | c.129 others(21): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148370586 | AGCCAAGG others(3139): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0134 | 1 | 322 | 0.0031 | -3146 | c.157 others(19): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26710078 | TGGGAGGC others(3131): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 416 | 0.0024 | -3138 | c.467 others(16): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26710086 | GGAGGTTG others(3131): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(221): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(200): Show |
224 | 416 | 0.5385 | -3138 | c.467 others(16): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72652254 | AAAAGTGA others(3130): Show |
A | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 80 | 0.0125 | -3137 | c.398 others(19): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9640313 | GGCATTAA others(3126): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01070.hp2 others(55): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(25): Show | a0001c0001t0001g0253 a0001c0002t0001g0119 a0001c0002t0001g0264 others(55): Show |
58 | 272 | 0.2132 | -3133 | c.994 others(19): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PIK3CB_chr3_138647698_138839928 | 138743970 | TTATATAC others(3121): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0004 | 1 | 206 | 0.0049 | -3128 | c.398 others(17): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64637143 | CGTATGTT others(3119): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02622.hp2 others(12): Show |
a0001a0002a0003others(10): Show | a0001c0009a0001c0012a0002c0008others(12): Show | a0001c0009t0001a0001c0012t0002a0002c0008t0002others(12): Show | a0001c0009t0001g0012 a0001c0012t0002g0021 a0002c0008t0002g0020 others(12): Show |
15 | 24 | 0.6250 | -3126 | c.344 others(21): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | |||||||
TRIM62_chr1_33140399_33187043 | 33183923 | GCATTGTC others(3113): Show |
G | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0071 | 1 | 340 | 0.0029 | -3120 | c.-56 others(11): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 1881 | chr1 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166299169 | TCATTATC others(3107): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02145.hp2 HG02486.hp2 others(9): Show |
a0001a0002a0006others(2): Show | a0001c0007a0001c0011a0001c0018others(5): Show | a0001c0007t0001a0001c0007t0024a0001c0011t0009others(8): Show | a0001c0007t0001g0060 a0001c0007t0024g0050 a0001c0011t0009g0027 others(9): Show |
12 | 296 | 0.0405 | -3114 | c.901 others(16): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 7/26 | chr2 | TogoVar | |||||||
SYT14_chr1_209933217_210176315 | 209968302 | CTACAGTA others(3104): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0016 | 1 | 358 | 0.0028 | -3111 | c.61+ others(17): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129591209 | TTCCCTTT others(3101): Show |
T | intron_variant | MODIFIER | NA19000.hp2 NA19081.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0213 a0001c0003t0001g0214 |
2 | 226 | 0.0089 | -3108 | c.137 others(19): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SUCLG2_chr3_67369719_67659612 | 67443271 | TGAAATTA others(3097): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(159): Show |
162 | 280 | 0.5786 | -3104 | c.106 others(21): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163638927 | CCATTCAC others(3095): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0098 | 1 | 102 | 0.0098 | -3102 | c.163 others(19): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1400273 | AGAGTCGT others(3090): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | -3097 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FAM47C_chrX_37003366_37016664 | 37013254 | CATTTTCC others(3088): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01081.hp1 others(15): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 18 | 308 | 0.0584 | -3095 | c.*17 others(11): Show |
FAM47C | ENSG00000198173.5 | transcript | ENST00000358047.5 | protein_coding | 1591 | chrX | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38803763 | ACGTCTCA others(3087): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0026 a0001c0001t0001g0083 a0001c0001t0001g0084 others(46): Show |
49 | 342 | 0.1433 | -3094 | c.407 others(19): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 6/19 | chr12 | TogoVar | |||||||
PANK2_chr20_3884387_3934887 | 3898147 | CTCTTTTG others(3085): Show |
C | intron_variant | MODIFIER | HG02165.hp2 HG03710.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0068 a0001c0001t0016g0069 a0001c0001t0016g0119 |
3 | 422 | 0.0071 | -3092 | c.298 others(17): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMEM131_chr2_97751336_98000948 | 97928315 | GAGATCAG others(3085): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0002a0001c0024a0001c0026others(1): Show | a0001c0002t0001a0001c0024t0001a0001c0026t0001others(1): Show | a0001c0002t0001g0264 a0001c0002t0001g0267 a0001c0002t0001g0278 others(3): Show |
6 | 284 | 0.0211 | -3092 | c.188 others(16): Show |
TMEM131 | ENSG00000075568.17 | transcript | ENST00000186436.10 | protein_coding | 1/40 | chr2 | TogoVar | |||||||
LGR5_chr12_71434798_71591310 | 71492784 | TTTGAGTT others(3082): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0010a0003c0005t0011others(1): Show | a0001c0001t0001g0167 a0001c0002t0010g0182 a0001c0002t0010g0183 others(3): Show |
6 | 200 | 0.0300 | -3089 | c.213 others(18): Show |
LGR5 | ENSG00000139292.13 | transcript | ENST00000266674.10 | protein_coding | 1/17 | chr12 | TogoVar | |||||||
TULP2_chr19_48875967_48903744 | 48883133 | GGCGTGAG others(3080): Show |
G | exon_loss_variant | HIGH | HG02109.hp2 | a0013 | a0013c0011 | a0013c0011t0002 | a0013c0011t0002g0242 | 1 | 364 | 0.0028 | -3087 | c.949 others(16): Show |
TULP2 | ENSG00000104804.9 | transcript | ENST00000221399.8 | protein_coding | 11/13 | chr19 | TogoVar |