Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(40): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0096 a0001c0004t0005g0096	1	139	0.0072	47	c.357 others(64): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTTC others(40): Show CTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0097 a0002c0006t0002g0097	1	247	0.0040	47	c.178 others(64): Show c.178-4206_178-4205insAGAAAGAAAGAAGAAAGAAAGAAAGAAA GGAAGAAAGAAAGAAAGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HEPACAM_chr11_124914205_124941047	124929734	A A	AGTAGGAT others(40): Show AGTAGGATTTTGAGCTGCTGCGATGCCGGGAATGTCAAACTTTAGGAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	418	0.0024	47	c.86- others(62): Show c.86-4666_86-4665insCTCCTAAAGTTTGACATTCCCGGCATCGCA GCAGCTCAAAATCCTAC	HEPACAM	ENSG00000165478.8	transcript	ENST00000298251.5	protein_coding	1/6			chr11	TogoVar
HERC3_chr4_88587480_88713539	88699102	C C	CCCTCTTC others(40): Show CCCTCTTCTTCCTCACCCTCTTTACCCTCTTCTTCCTCACGCTCCTCA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	294	0.0034	47	c.265 others(66): Show c.2658-4975_2658-4974insTACCCTCTTCTTCCTCACGCTCCTCA CCTCTTCTTCCTCACCCTCTT	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380321	T T	TATATAAT others(40): Show TATATAATATATAAATATATATAATATATAAATATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp2 HG01496.hp2 others(1): Show HG00140.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0019 a0002c0005 a0001c0008 a0001c0019 a0002c0005	a0001c0008t0001 a0001c0019t0001 a0002c0005t0001 a0001c0008t0001 a0001c0019t0001 a0002c0005t0001	a0001c0008t0001g0058 a0001c0019t0001g0063 a0002c0005t0001g0059 others(1): Show a0001c0008t0001g0058 a0001c0019t0001g0063 a0002c0005t0001g0059 a0002c0005t0001g0060	4	164	0.0244	47	c.199 others(64): Show c.199+1206_199+1207insATATATAAATATATATAATATATAAATA TATATAATATATAAATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HIVEP1_chr6_12007312_12169999	12167631	T T	TTATATTA others(40): Show TTATATTACATGTATATATACATGTTATATTACATGTATATATACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG03471.hp2 others(1): Show HG02976.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp1	a0013 a0026 a0029 a0013 a0026 a0029	a0013c0015 a0026c0036 a0029c0047 a0013c0015 a0026c0036 a0029c0047	a0013c0015t0001 a0026c0036t0001 a0029c0047t0001 a0013c0015t0001 a0026c0036t0001 a0029c0047t0001	a0013c0015t0001g0166 a0013c0015t0001g0167 a0026c0036t0001g0259 others(1): Show a0013c0015t0001g0166 a0013c0015t0001g0167 a0026c0036t0001g0259 a0029c0047t0001g0056	4	335	0.0119	47	c.31 others(58): Show c.3170_*3171insTATATTACATGTATATATACATGTTATATTACAT GTATATATACATG	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2633		chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55477050	A A	AAATGGTA others(40): Show AAATGGTATTTCTATGTAACAAACCTGCACATTGTGCACATGTACCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	332	0.0030	47	c.795 others(66): Show c.795+18322_795+18368dupGGGGTACATGTGCACAATGTGCAGGT TTGTTACATAGAAATACCATT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55477408	A A	ATATATTT others(40): Show ATATATTTATCTAATATATATTATATATAATATAATATATATTATATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG02559.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0204 a0001c0001t0004g0205	2	320	0.0063	47	c.795 others(66): Show c.795+18010_795+18011insAATATAATATATATTATATTATATAT AATATATATTAGATAAATATA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(40): Show GATATATATATATATATATATATATATATATATATTATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	110	0.0091	47	c.57 others(58): Show c.5742_*5743insATATATATATATAATATATATATATATATATATA TATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMOX1_chr22_35376096_35399207	35389395	C C	CCTTCCTT others(40): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	276	0.0036	47	c.637 others(62): Show c.637-466_637-465insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HNF4A_chr20_44350699_44437845	44437087	C C	CTGGTTTG others(40): Show CTGGTTTGATTGTTGTGTGGGGTGTTTGTGTATTGGGTTTCTTCTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	320	0.0031	47	c.74 others(58): Show c.7422_*7423insTGGTTTGATTGTTGTGTGGGGTGTTTGTGTATTG GGTTTCTTCTGTT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding		4243		chr20	TogoVar
HNMT_chr2_137959473_138021364	137974065	C C	CAAGATTT others(40): Show CAAGATTTCAAGACTGAAAGCACGTTTGATGGCCCAAACACACAAGAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	330	0.0030	47	c.190 others(64): Show c.190+3849_190+3850insAGATTTCAAGACTGAAAGCACGTTTGAT GGCCCAAACACACAAGAAA	HNMT	ENSG00000150540.14	transcript	ENST00000280097.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(40): Show GTATATATATATATATATATATATATATATATATTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	23	0.0435	47	c.62 others(58): Show c.6213_*6214insTATATATATATATAATATATATATATATATATAT ATATATATATATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TTTATTTT others(40): Show TTTATTTTATTTTATTTTATTTTTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19240.hp1 HG02976.hp1 NA19240.hp1	a0005 a0016 a0005 a0016	a0005c0005 a0016c0026 a0005c0005 a0016c0026	a0005c0005t0015 a0016c0026t0015 a0005c0005t0015 a0016c0026t0015	a0005c0005t0015g0059 a0016c0026t0015g0060 a0005c0005t0015g0059 a0016c0026t0015g0060	2	352	0.0057	47	c.41- others(62): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAAAAAAT AAAATAAAATAAAATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280785	T T	TTTATTTT others(40): Show TTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0242 a0003c0004t0001g0242	1	375	0.0027	47	c.41- others(62): Show c.41-3599_41-3598insTAAAATAAAATAAAATAAAATAAAATAAAA TAAATAAAATAAAATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280785	T T	TTTATTTT others(40): Show TTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03492.hp1 HG00741.hp1 HG03492.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0007c0011 a0003c0004 a0007c0011	a0003c0004t0002 a0007c0011t0002 a0003c0004t0002 a0007c0011t0002	a0003c0004t0002g0141 a0007c0011t0002g0241 a0003c0004t0002g0141 a0007c0011t0002g0241	2	376	0.0053	47	c.41- others(62): Show c.41-3599_41-3598insTAAAATAAAATAAAATAAAATAAAATAAAT AAAATAAAATAAAATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HRCT1_chr9_35901202_35912136	35908481	A A	AGCTTGAG others(40): Show AGCTTGAGGCATAGTCTCCTGGTGCCCTCTATCACCCCAGTTAAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	47	c.18 others(58): Show c.1846_*1847insGCTTGAGGCATAGTCTCCTGGTGCCCTCTATCAC CCCAGTTAAGGAG	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding		1346		chr9	TogoVar
HRH3_chr20_62209960_62225278	62213606	A A	ATGGGGGA others(40): Show ATGGGGGAAGGGAGAGCAGGGATGGGGGGGAAGGAGAGCGGGGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03486.hp2 NA19054.hp2 HG03209.hp2 HG03486.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0011 a0001c0001t0001 a0001c0003t0011	a0001c0001t0001g0001 a0001c0003t0011g0054 a0001c0001t0001g0001 a0001c0003t0011g0054	3	280	0.0107	47	c.23 others(58): Show c.2399_*2400insCCCATCCCCGCTCTCCTTCCCCCCCATCCCTGCT CTCCCTTCCCCCA	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1353		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213606	A A	ATGGGGGA others(40): Show ATGGGGGAAGGGAGAGCAGGGATGGGGGGGAAGGAGAGTGGGGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA19006.hp1 NA18975.hp1 NA19006.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0001 a0003c0007t0001 a0001c0002t0001 a0003c0007t0001	a0001c0002t0001g0005 a0003c0007t0001g0051 a0001c0002t0001g0005 a0003c0007t0001g0051	2	279	0.0072	47	c.23 others(58): Show c.2399_*2400insCCCATCCCCACTCTCCTTCCCCCCCATCCCTGCT CTCCCTTCCCCCA	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1353		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213607	T T	TGGGTGGG others(40): Show TGGGTGGGGGAAGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	363	0.0028	47	c.23 others(58): Show c.2398_*2399insCCATCCCTGCTCTCCCTTCCCCCATCCCCGCTCT CCTTCCCCCACCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1352		chr20	TogoVar
HS6ST3_chr13_96085107_96844562	96304712	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02132.hp1 HG00099.hp2 HG02132.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0006 a0002c0002t0005g0040 a0001c0001t0002g0006 a0002c0002t0005g0040	2	102	0.0196	47	c.707 others(68): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSD11B1L_chr19_5676027_5693522	5693240	C C	CTGTCCCG others(40): Show CTGTCCCGTGGTGGTGTGGGCCCTGCCAGTGCTGTGGGGTGGGTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	380	0.0026	47	c.52 others(58): Show c.5295_*5296insTGTCCCGTGGTGGTGTGGGCCCTGCCAGTGCTGT GGGGTGGGTACAG	HSD11B1L	ENSG00000167733.14	transcript	ENST00000339423.7	protein_coding		4719		chr19	TogoVar
HSF1_chr8_144286604_144319720	144313670	C C	CCCGCCTC others(40): Show CCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	261	0.0038	47	c.124 others(62): Show c.1248+66_1248+67insACCGCCTCCCCGCCTCCCCGCCCCGCCTCC CCGCGCCGCCTCCCCGC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313723	G G	GCGCCGCC others(40): Show GCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01071.hp2 HG00642.hp1 HG01069.hp2 HG01071.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0252 a0003c0004t0001g0028 a0001c0001t0001g0252 a0003c0004t0001g0028	3	255	0.0118	47	c.124 others(64): Show c.1248+108_1248+109insGCCGCCTCCCCGCGCCGCGCCGCCTCCC CGCCTCCCCGCGCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCCTCCCC others(40): Show GCCTCCCCGCACCGCCTCCCCGCCCCGCCTCCCCGCGCCGCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	28	0.0357	47	c.124 others(62): Show c.1249-56_1249-55insTCCCCGCACCGCCTCCCCGCCCCGCCTCCC CGCGCCGCCCCGCCTCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144318592	C C	CCTCTTCC others(40): Show CCTCTTCCTCAAGCTCTTCTCCTACCGCGACGTCAACTCATGGTGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	328	0.0030	47	c.42 others(58): Show c.4262_*4263insCTCTTCCTCAAGCTCTTCTCCTACCGCGACGTCA ACTCATGGTGCCG	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding		3873		chr8	TogoVar
IDE_chr10_92446684_92579093	92524370	A A	ATATATTA others(40): Show ATATATTATATTATATATAATATATTTTATATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp2 HG02145.hp1 others(17): Show HG00639.hp1 HG01891.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0158 a0001c0001t0002g0246 a0001c0001t0002g0247 others(17): Show a0001c0001t0001g0158 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0006g0023	20	67	0.2985	47	c.661 others(64): Show c.661+7377_661+7378insATATATATTATATATTATATAAAATATA TTATATATAATATAATATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFNA1_chr9_21435439_21446316	21445385	T T	TATATATA others(40): Show TATATATATATGTACATATATACACACATATGTATATCACACATTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	47	c.43 others(58): Show c.4308_*4309insATATATATATGTACATATATACACACATATGTAT ATCACACATTATG	IFNA1	ENSG00000197919.6	transcript	ENST00000276927.3	protein_coding		4070		chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAC others(40): Show ATGTGGACCATACATGTGTGGAACATACGTATGTGGACCATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0139 a0001c0001t0012g0139	1	260	0.0038	47	c.-32 others(58): Show c.-3234_-3233insTGTGGACCATACATGTGTGGAACATACGTATGTG GACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IGSF21_chr1_18102798_18383483	18305240	C C	CGATGGAT others(40): Show CGATGGATGGATGCATGGATGGTGGATGGGTGGATGGATGAATGGATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02647.hp2 others(5): Show HG01109.hp2 HG01884.hp2 HG02647.hp2 HG03130.hp2 HG03471.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0004t0003 a0001c0004t0011	a0001c0001t0001g0048 a0001c0001t0003g0149 a0001c0001t0003g0206 others(5): Show a0001c0001t0001g0048 a0001c0001t0003g0149 a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0001t0009g0034 a0001c0001t0011g0208 a0001c0004t0003g0201 a0001c0004t0011g0204	8	243	0.0329	47	c.305 others(66): Show c.305+13273_305+13319dupGGTGGATGGGTGGATGGATGAATGGA TAGATGGATGGATGCATGGAT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAC others(40): Show ATATATACATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0298 a0001c0005t0014g0298	1	59	0.0169	47	c.313 others(66): Show c.313-16608_313-16607insATATACATATATATATATATATATAT ATATATATATATATATATTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(40): Show ATATATATATATATACATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0138 a0001c0002t0005g0138	1	59	0.0169	47	c.313 others(66): Show c.313-16608_313-16607insATATATATATATACATATATATATAT ATATATATATATATTTTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL17RD_chr3_57084982_57170353	57105552	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0060 a0002c0003t0012g0060	1	174	0.0057	47	c.747 others(62): Show c.747+304_747+305insATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTT	IL17RD	ENSG00000144730.19	transcript	ENST00000296318.12	protein_coding	7/12			chr3	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0249 a0001c0009t0011g0249	1	192	0.0052	47	c.852 others(62): Show c.852+572_852+573insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATA	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19000.hp2 HG02165.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0005 a0001c0003t0003 a0002c0002t0005	a0001c0003t0003g0138 a0002c0002t0005g0054 a0001c0003t0003g0138 a0002c0002t0005g0054	2	16	0.1250	47	c.852 others(62): Show c.852+587_852+588insATATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03927.hp1 NA18956.hp1 HG01346.hp2 HG03927.hp1 NA18956.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0002 a0001c0003 a0001c0005 a0002c0002	a0001c0003t0065 a0001c0005t0011 a0002c0002t0076 a0001c0003t0065 a0001c0005t0011 a0002c0002t0076	a0001c0003t0065g0085 a0001c0005t0011g0036 a0002c0002t0076g0077 a0001c0003t0065g0085 a0001c0005t0011g0036 a0002c0002t0076g0077	3	17	0.1765	47	c.852 others(62): Show c.852+587_852+588insATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0090 a0002c0002t0005g0090	1	15	0.0667	47	c.852 others(62): Show c.852+587_852+588insATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(40): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	15	0.0667	47	c.852 others(62): Show c.852+587_852+588insATATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(40): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	15	0.0667	47	c.852 others(62): Show c.852+587_852+588insATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL3RA_chrX_1331785_1387689	1366575	A A	AGCGGGGG others(40): Show AGCGGGGGTGCGCGGGGTGAGCCGGGGTGCGCGGGTGAGCCGGGGTGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	110	0.0091	47	c.874 others(64): Show c.874+1329_874+1330insGTGCGCGGGGTGAGCCGGGGTGCGCGGG TGAGCCGGGGTGCGCGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366944	C C	CGGGGGTG others(40): Show CGGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCCGGGTGCGCG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	108	0.0093	47	c.874 others(64): Show c.874+1696_874+1697insGTGAGCGGGGTGCGCCGGGTGAGCGGGG TGAGCCGGGTGCGCGGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366947	G G	GGGTGAGC others(40): Show GGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCCGGGTGCGCGGGT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	113	0.0088	47	c.874 others(64): Show c.874+1696_874+1697insGTGAGCGGGGTGCGCCGGGTGAGCGGGG TGAGCCGGGTGCGCGGGTG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366953	C C	CGGGGTGC others(40): Show CGGGGTGCGCCGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGGTGCGCG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	110	0.0091	47	c.874 others(64): Show c.874+1710_874+1711insCGGGTGAGCGGGGTGAGCCGGGTGCGCG GGGGTGCGCGGGGGTGCGC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366962	C C	CCGGGTGA others(40): Show CCGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGGTGCGCGGGGTGCGCG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02738.hp2 HG01346.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0055 a0001c0001t0001g0001 a0001c0001t0002g0055	2	111	0.0180	47	c.874 others(64): Show c.874+1710_874+1711insCGGGTGAGCGGGGTGAGCCGGGTGCGCG GGGGTGCGCGGGGTGCGCG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
IMPACT_chr18_24421670_24458531	24422765	T T	TAGCTGGA others(40): Show TAGCTGGAGCCCTCAGTCAATTACTCTTCCTGCTGTCTAAGATCGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 NA18747.hp1 HG02015.hp2 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0121 a0002c0002t0002g0122	2	400	0.0050	47	c.-39 others(58): Show c.-3992_-3991insAGCTGGAGCCCTCAGTCAATTACTCTTCCTGCTG TCTAAGATCGAAG	IMPACT	ENSG00000154059.11	transcript	ENST00000284202.9	protein_coding		3904		chr18	TogoVar
INPP5A_chr10_132532787_132788480	132714588	G G	GCAGCACC others(40): Show GCAGCACCAGGCCCAGGAGGGAGGGCAGGTCCCAGCCCTGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	202	0.0050	47	c.647 others(64): Show c.647+4133_647+4179dupCAGCACCAGGCCCAGGAGGGAGGGCAGG TCCCAGCCCTGGAGGAGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	72	0.0139	47	c.281 others(64): Show c.281-1161_281-1160insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	72	0.0139	47	c.281 others(64): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	73	0.0274	47	c.281 others(64): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INTS6_chr13_51356577_51458036	51429785	A A	AAATATAT others(40): Show AAATATATATATATATATATATATATGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0329 a0001c0002t0008g0329	1	279	0.0036	47	c.429 others(62): Show c.429+508_429+509insATATATATATATATATATATACATATATAT ATATATATATATATATT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar

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