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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KMT2C_chr7_152129925_152441003 | 152320452 | GTGGCCAG others(4893): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 172 | 0.0058 | -4900 | c.389 others(17): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 3/58 | chr7 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73783350 | GATTCAAG others(4884): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01167.hp1 HG02258.hp1 HG02280.hp2 others(3): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0001a0003c0002t0002g0021 | 6 | 212 | 0.0283 | -4891 | c.-95 others(12): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76505236 | GATACACG others(4884): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(139): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0004a0001c0018others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0020others(139): Show | 142 | 274 | 0.5183 | -4891 | c.236 others(20): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | chr16 | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51630515 | GGGGGCTG others(4879): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(114): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0022others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0002others(17): Show | a0001c0001t0001g0039a0001c0001t0001g0135a0001c0001t0001g0136others(90): Show | 117 | 414 | 0.2826 | -4886 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 115 | chr19 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134268536 | CACGGTGA others(4861): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00738.hp1 others(35): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0001g0062others(35): Show | 38 | 250 | 0.1520 | -4868 | c.70- others(16): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2277338 | AAGAAAGA others(4860): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0043 | 1 | 50 | 0.0200 | -4867 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18415003 | GTATTTAA others(4857): Show |
G | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 200 | 0.0050 | -4864 | c.333 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18415003 | GTATTTAA others(4857): Show |
G | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 302 | 0.0033 | -4864 | c.171 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DHRSX_chrX_2214506_2505976 | 2277420 | AGGGGAAA others(4857): Show |
A | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 50 | 0.0200 | -4864 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51630537 | TCCCACCC others(4857): Show |
T | upstream_gene_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 414 | 0.0024 | -4864 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 137 | chr19 | TogoVar | ||||||
NUP43_chr6_149719315_149751529 | 149725573 | GAGCAAAA others(4854): Show |
G | frameshift_variant others(2): Show |
HIGH | NA18945.hp1 | a0000 | a0000c0005 | a0000c0005t0031 | a0000c0005t0031g0054 | 1 | 328 | 0.0031 | -4861 | c.913 others(14): Show |
p.Gly others(5): Show |
NUP43 | ENSG00000120253.14 | transcript | ENST00000340413.7 | protein_coding | 8/8 | 2572/3831 | 914/1143 | 305/380 | chr6 | TogoVar | ||
DHRSX_chrX_2214506_2505976 | 2277436 | AAGAGAGA others(4853): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016 | 1 | 50 | 0.0200 | -4860 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51630542 | CCCCGACT others(4852): Show |
C | upstream_gene_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0178 | 1 | 414 | 0.0024 | -4859 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 142 | chr19 | TogoVar | ||||||
MOXD1_chr6_132291055_132406475 | 132386421 | AACAAAAC others(4851): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01515.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062others(4): Show | 8 | 318 | 0.0252 | -4858 | c.264 others(18): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
MOXD1_chr6_132291055_132406475 | 132386422 | ACAAAACA others(4850): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 318 | 0.0031 | -4857 | c.264 others(18): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89482281 | CCACATGT others(4846): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02165.hp1 NA18981.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0014 | a0003c0004t0002g0025a0003c0004t0002g0167a0003c0004t0002g0171others(1): Show | 4 | 200 | 0.0200 | -4853 | c.*27 others(11): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 148 | chr3 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178420751 | GGGCTTTG others(4831): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0146 | 1 | 236 | 0.0042 | -4838 | c.362 others(21): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
LINGO3_chr19_2282164_2313154 | 2296984 | CGGGAGGC others(4829): Show |
C | intron_variant | MODIFIER | NA18959.hp1 NA19064.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0039 | a0002c0002t0003g0183a0002c0002t0039g0043 | 2 | 418 | 0.0048 | -4836 | c.-47 others(17): Show |
LINGO3 | ENSG00000220008.4 | transcript | ENST00000698372.1 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
MCM9_chr6_118808455_118940159 | 118843886 | AGAAAGCA others(4828): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182a0001c0001t0004g0183a0001c0001t0004g0184others(4): Show | 7 | 348 | 0.0201 | -4835 | c.132 others(20): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
FNDC3B_chr3_172034578_172406669 | 172242515 | GAAGCTAC others(4827): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0063 | a0001c0005t0063g0084 | 1 | 196 | 0.0051 | -4834 | c.265 others(16): Show |
FNDC3B | ENSG00000075420.13 | transcript | ENST00000415807.7 | protein_coding | 4/25 | chr3 | TogoVar | ||||||
OR13C5_chr9_104593457_104604413 | 104599580 | TACAGAAA others(4826): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02572.hp1 others(1): Show |
a0009 | a0009c0009 | a0009c0009t0000 | a0009c0009t0000g0000 | 4 | 424 | 0.0094 | -4833 | c.-50 others(10): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 168 | chr9 | TogoVar | ||||||
ZFP2_chr5_178890913_178938212 | 178921361 | CCATCCCT others(4826): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0007a0001c0004t0009a0001c0004t0020others(1): Show | a0001c0001t0007g0044a0001c0004t0009g0040a0001c0004t0009g0041others(7): Show | 10 | 392 | 0.0255 | -4833 | c.-78 others(17): Show |
ZFP2 | ENSG00000198939.8 | transcript | ENST00000361362.7 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 62214434 | TAACTTAC others(4825): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01993.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0003t0002g0051 | 3 | 244 | 0.0123 | -4832 | c.92- others(17): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
ZNF675_chr19_23647801_23692212 | 23678611 | CTCTAATA others(4820): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0241a0001c0001t0001g0242 | 4 | 376 | 0.0106 | -4827 | c.3+3 others(13): Show |
ZNF675 | ENSG00000197372.10 | transcript | ENST00000359788.9 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69827834 | CACAATCC others(4815): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01358.hp2 HG01993.hp1 others(15): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(6): Show | a0001c0003t0001g0070a0001c0003t0001g0095a0001c0003t0001g0102others(15): Show | 18 | 182 | 0.0989 | -4822 | c.141 others(20): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
CDCA2_chr8_25454233_25512911 | 25494833 | TAAGAGGA others(4812): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0012 | a0012c0013 | a0012c0013t0002 | a0012c0013t0002g0158 | 1 | 326 | 0.0031 | -4819 | c.167 others(19): Show |
CDCA2 | ENSG00000184661.14 | transcript | ENST00000330560.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MBD3L5_chr19_7025578_7038011 | 7033199 | ATCTCGGC others(4805): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02622.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0029a0002c0002t0001g0002 | 2 | 249 | 0.0080 | -4812 | c.*30 others(10): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 189 | chr19 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143860569 | TGGCGGCG others(4796): Show |
T | conservative_inframe_deletion | MODERATE | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
a0027a0152 | a0027c0042a0152c0293 | a0027c0042t0001a0027c0042t0004a0152c0293t0001 | a0027c0042t0001g0035a0027c0042t0004g0034a0152c0293t0001g0102 | 3 | 424 | 0.0071 | -4803 | c.788 others(10): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12759/16005 | 7882/15267 | 2628/5088 | chr8 | TogoVar | ||
GRIK2_chr6_101388708_102075083 | 101866738 | TAGCCATT others(4793): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 116 | 0.0086 | -4800 | c.152 others(20): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ORC4_chr2_147925396_148025737 | 148014691 | ATAAAAAA others(4793): Show |
A | intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 336 | 0.0030 | -4800 | c.-18 others(17): Show |
ORC4 | ENSG00000115947.14 | transcript | ENST00000392857.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143859400 | CTCCACGG others(4790): Show |
C | disruptive_inframe_deletion | MODERATE | NA19030.hp1 NA19064.hp1 |
a0223a0246 | a0223c0325a0246c0113 | a0223c0325t0016a0246c0113t0002 | a0223c0325t0016g0194a0246c0113t0002g0083 | 2 | 424 | 0.0047 | -4797 | c.905 others(10): Show |
p.Glu others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13928/16005 | 9057/15267 | 3019/5088 | chr8 | TogoVar | ||
SCAF8_chr6_154728416_154839221 | 154797105 | ATTTTATA others(4790): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037a0001c0001t0002g0038 | 2 | 282 | 0.0071 | -4797 | c.606 others(15): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20709161 | CGCAGTCT others(4786): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01109.hp1 others(28): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0002c0003others(18): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0001others(19): Show | a0001c0001t0001g0279a0001c0001t0010g0332a0001c0005t0001g0185others(28): Show | 31 | 360 | 0.0861 | -4793 | c.242 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZNF182_chrX_47969851_48008989 | 47970057 | TTCACTTA others(4785): Show |
T | downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 270 | 0.0037 | -4792 | c.*13 others(11): Show |
ZNF182 | ENSG00000147118.12 | transcript | ENST00000376943.8 | protein_coding | 4793 | chrX | TogoVar | ||||||
NDST3_chr4_118029486_118263634 | 118204256 | TAATTCGG others(4781): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00735.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0020a0001c0002t0001others(9): Show | a0001c0001t0001g0184a0001c0001t0020g0113a0001c0002t0001g0029others(39): Show | 42 | 216 | 0.1944 | -4788 | c.154 others(21): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
THRB_chr3_24112153_24499850 | 24125043 | ATTCACAG others(4775): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02970.hp1 | a0000 | a0000c0004 | a0000c0004t0054 | a0000c0004t0054g0131 | 1 | 178 | 0.0056 | -4782 | c.886 others(18): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 10/11 | chr3 | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24861624 | GTGAAGTA others(4773): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01074.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(25): Show | 28 | 41 | 0.6829 | -4780 | c.121 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ4_chrY_24828919_24912040 | 24861656 | GACTATAT others(4773): Show |
G | exon_loss_variant | HIGH | HG02027.hp1 HG03942.hp1 |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0001 | a0002c0002t0001g0009a0006c0006t0001g0037 | 2 | 41 | 0.0488 | -4780 | c.128 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23274561 | ATTTTCCA others(4762): Show |
A | exon_loss_variant | HIGH | HG02647.hp2 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0003 | 1 | 54 | 0.0185 | -4769 | c.165 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ4_chrY_24828919_24912040 | 24887215 | AATGGCAG others(4762): Show |
A | exon_loss_variant | HIGH | NA19072.hp1 NA19076.hp1 |
a0005a0011 | a0005c0005a0011c0010 | a0005c0005t0001a0011c0010t0001 | a0005c0005t0001g0001a0011c0010t0001g0038 | 2 | 41 | 0.0488 | -4769 | c.178 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ4_chrY_24828919_24912040 | 24888323 | GCTTCCCC others(4762): Show |
G | exon_loss_variant | HIGH | HG02071.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0030 | 1 | 41 | 0.0244 | -4769 | c.185 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149500408 | CTCTGTGT others(4762): Show |
C | exon_loss_variant | HIGH | NA19030.hp2 | a0090 | a0090c0121 | a0090c0121t0008 | a0090c0121t0008g0149 | 1 | 276 | 0.0036 | -4769 | c.295 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 26/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELA3B_chr1_21972022_21994354 | 21989588 | AAAAATGG others(4759): Show |
A | downstream_gene_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 444 | 0.0023 | -4766 | c.*31 others(10): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 235 | chr1 | TogoVar | ||||||
ULK4_chr3_41241599_41967103 | 41774415 | TATGAACA others(4755): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0006 | 1 | 72 | 0.0139 | -4762 | c.219 others(21): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 21/36 | chr3 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146985553 | ATCAGCCT others(4754): Show |
A | exon_loss_variant | HIGH | HG02145.hp2 NA18947.hp2 |
a0014a0027 | a0014c0048a0027c0022 | a0014c0048t0009a0027c0022t0001 | a0014c0048t0009g0118a0027c0022t0001g0043 | 2 | 122 | 0.0164 | -4761 | c.289 others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149505344 | CCATGAAA others(4754): Show |
C | exon_loss_variant | HIGH | NA18984.hp1 | a0079 | a0079c0107 | a0079c0107t0001 | a0079c0107t0001g0059 | 1 | 276 | 0.0036 | -4761 | c.396 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 34/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLIC4_chr1_24740447_24849321 | 24751482 | ACCCGCTC others(4753): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 344 | 0.0029 | -4760 | c.72+ others(16): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23237719 | TAGACTTC others(4753): Show |
T | exon_loss_variant | HIGH | NA18974.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0051 | 1 | 54 | 0.0185 | -4760 | c.786 others(15): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149500412 | GTGTGTGT others(4752): Show |
G | exon_loss_variant | HIGH | HG02683.hp2 | a0126 | a0126c0130 | a0126c0130t0001 | a0126c0130t0001g0134 | 1 | 276 | 0.0036 | -4759 | c.295 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 26/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DAZ3_chrY_24758069_24818393 | 24791258 | CCTCTGAC others(4751): Show |
C | exon_loss_variant | HIGH | HG01074.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0011 | 1 | 45 | 0.0222 | -4758 | c.786 others(13): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 12/19 | chrY | TogoVar |