Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL4A2_chr13_110302284_110518209	110313562	C C	CCCACCCC others(27): Show CCCACCCCGGTGCCCCGCGTCCACCCGGCAGGCTA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0035 a0003c0007t0035	a0003c0007t0035g0025 a0003c0007t0035g0025	1	372	0.0027	34	c.99+ others(49): Show c.99+5446_99+5447insGGTGCCCCGCGTCCACCCGGCAGGCTACCA CCCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110313596	C C	CCCACCCC others(27): Show CCCACCCCGGTGCCCCGCGTCCACCCGGCAGGCTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0067 a0003c0067	a0003c0067t0050 a0003c0067t0050	a0003c0067t0050g0151 a0003c0067t0050g0151	1	372	0.0027	34	c.99+ others(49): Show c.99+5480_99+5481insGGTGCCCCGCGTCCACCCGGCAGGCTACCA CCCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110313766	C C	CCCACCCC others(27): Show CCCACCCCGGTGCCCCGCGTCCACCCGGCAGGCTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG02145.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0002c0122 a0001c0014 a0002c0122	a0001c0014t0009 a0002c0122t0003 a0001c0014t0009 a0002c0122t0003	a0001c0014t0009g0004 a0002c0122t0003g0020 a0001c0014t0009g0004 a0002c0122t0003g0020	2	372	0.0054	34	c.99+ others(49): Show c.99+5676_99+5677insACCACCCCGGTGCCCCGCGTCCACCCGGCA GGCT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110313851	C C	CGTCCACC others(27): Show CGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0080 a0001c0005t0003g0080	1	372	0.0027	34	c.99+ others(49): Show c.99+5746_99+5747insCACCCCAGTGCCCCGTGTCCACCCGGCAGG CTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110313865	G G	GCTCCCAC others(27): Show GCTCCCACCCCGGTGCCCCGTGTCCACCCGGCAGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0067 a0003c0067	a0003c0067t0050 a0003c0067t0050	a0003c0067t0050g0151 a0003c0067t0050g0151	1	372	0.0027	34	c.99+ others(49): Show c.99+5746_99+5747insCACCCCGGTGCCCCGTGTCCACCCGGCAGA CTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355550	T T	TGGGAGAG others(27): Show TGGGAGAGGGCTGCACTAGCTCACCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0146 a0001c0014t0001g0146	1	372	0.0027	34	c.100 others(51): Show c.100-1919_100-1918insAGAGGGCTGCACTAGCTCACCTGTGTGT GTGGGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355712	T T	TGGGGGAG others(27): Show TGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0003 a0003	a0003c0044 a0003c0044	a0003c0044t0004 a0003c0044t0004	a0003c0044t0004g0326 a0003c0044t0004g0327 a0003c0044t0004g0326 a0003c0044t0004g0327	2	372	0.0054	34	c.100 others(51): Show c.100-1756_100-1755insGAGGGCTGCACTAGCTCACCTGTGTGAG TGGGGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355793	C C	CTAGCTCA others(27): Show CTAGCTCACCTGTGTGTGGGGGGGAGGGCTGCACT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0091 a0002c0091	a0002c0091t0001 a0002c0091t0001	a0002c0091t0001g0210 a0002c0091t0001g0210	1	372	0.0027	34	c.100 others(51): Show c.100-1679_100-1678insTAGCTCACCTGTGTGTGGGGGGGAGGGC TGCACT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355793	C C	CTAGCTCA others(27): Show CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0002 a0002c0041t0002	a0002c0041t0002g0369 a0002c0041t0002g0369	1	372	0.0027	34	c.100 others(51): Show c.100-1679_100-1678insTAGCTCACCTGTGTGTGTGGGGGAGGGC TGCACT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203362	C C	CATGTGTG others(27): Show CATGTGTGTATATATGTGTATACATATATGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0220 a0003c0002t0003g0220	1	344	0.0029	34	c.88- others(51): Show c.88-34604_88-34603insGTGTGTATATATGTGTATACATATATGT GTGTAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02135.hp1 HG01256.hp2 HG02135.hp1	a0003 a0027 a0003 a0027	a0003c0002 a0027c0048 a0003c0002 a0027c0048	a0003c0002t0003 a0027c0048t0001 a0003c0002t0003 a0027c0048t0001	a0003c0002t0003g0099 a0027c0048t0001g0141 a0003c0002t0003g0099 a0027c0048t0001g0141	2	344	0.0058	34	c.546 others(49): Show c.546+711_546+712insATATATATATATATATATATATATATATTT TTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0156 a0006c0010t0006g0156	1	344	0.0029	34	c.546 others(49): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0090 a0003c0011t0001g0090	1	344	0.0029	34	c.546 others(49): Show c.546+711_546+712insATATATATATATATATATATATTTTTTTTT TTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	G G	GAAAGAAA others(27): Show GAAAGAAAGAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	284	0.0035	34	c.350 others(51): Show c.3505+299_3505+300insTTCTTTCTCTCTCTCTCTCTCTCTCTCT TTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041856	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0234 a0004c0004t0005g0234	1	284	0.0035	34	c.350 others(51): Show c.3505+258_3505+291dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045961	A A	ATATATAT others(27): Show ATATATATGTATATATGTATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0225 a0002c0002t0007g0225	1	284	0.0035	34	c.328 others(53): Show c.3289+1513_3289+1514insCATATATACATATATATACATATATA CATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089611	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0007 a0007	a0007c0031 a0007c0031	a0007c0031t0004 a0007c0031t0004	a0007c0031t0004g0170 a0007c0031t0004g0170	1	284	0.0035	34	c.145 others(51): Show c.1459+256_1459+257insCATATATATATATATATATATATATATA TATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03688.hp2 NA18612.hp1 others(1): Show HG03041.hp2 HG03688.hp2 NA18612.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0025t0001 a0001c0001t0001 a0001c0025t0001	a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0025t0001g0125	4	248	0.0161	34	c.457 others(51): Show c.457-2202_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970423	T T	TGGGTGTG others(27): Show TGGGTGTGTGGGGTCTGTGGGGTAAGCGGGGGCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01168.hp1 others(8): Show HG00639.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01361.hp2 HG01978.hp2 HG02109.hp1 HG02451.hp2 HG02698.hp2 HG03710.hp2 NA21309.hp1	a0008 a0020 a0021 others(3): Show a0008 a0020 a0021 a0022 a0029 a0064	a0008c0092 a0020c0035 a0020c0097 others(4): Show a0008c0092 a0020c0035 a0020c0097 a0021c0066 a0022c0030 a0029c0088 a0064c0076	a0008c0092t0002 a0020c0035t0002 a0020c0097t0002 others(4): Show a0008c0092t0002 a0020c0035t0002 a0020c0097t0002 a0021c0066t0003 a0022c0030t0002 a0029c0088t0002 a0064c0076t0007	a0008c0092t0002g0021 a0020c0035t0002g0003 a0020c0035t0002g0403 others(7): Show a0008c0092t0002g0021 a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 a0021c0066t0003g0295 a0022c0030t0002g0195 a0022c0030t0002g0293 a0022c0030t0002g0294 a0029c0088t0002g0255 a0064c0076t0007g0042	11	412	0.0267	34	c.393 others(51): Show c.3936+198_3936+199insCAGCCCCCGCTTACCCCACAGACCCCAC ACACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981659	C C	CCCGCCCC others(27): Show CCCGCCCCGGCCCCTCCTCCCCCTCCCCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	128	0.0078	34	c.-19 others(43): Show c.-192_-191insCCGCCCCGGCCCCTCCTCCCCCTCCCCCGCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		110		chr21	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG02257.hp1 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0058 a0002c0002t0001g0045 a0002c0002t0001g0058	2	362	0.0055	34	c.250 others(53): Show c.2504-1416_2504-1415insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318295	C C	CATACATA others(27): Show CATACATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0137 a0002c0022t0001g0137	1	438	0.0023	34	c.-10 others(45): Show c.-1099_-1098insATATATATATATATATATATATATATATATGTAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1010		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 NA19000.hp2 HG01981.hp1 NA19000.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0001 a0007c0009t0001 a0002c0002t0001 a0007c0009t0001	a0002c0002t0001g0002 a0007c0009t0001g0028 a0002c0002t0001g0002 a0007c0009t0001g0028	2	438	0.0046	34	c.-11 others(45): Show c.-1118_-1117insAAAATATATATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	438	0.0023	34	c.-11 others(45): Show c.-1118_-1117insAAAAAAAATATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0004 a0003c0005t0001g0004	1	438	0.0023	34	c.-11 others(45): Show c.-1118_-1117insAAAAAAAAAAAATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(27): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0018 a0005c0004t0003g0018	1	438	0.0023	34	c.-11 others(45): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC11_chr2_3590112_3649644	3605426	A A	AGGCGGGG others(27): Show AGGCGGGGGAGGGGAGTCACGTGGGTGCCGAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0007 a0001c0014 others(5): Show a0001c0001 a0001c0007 a0001c0014 a0002c0002 a0002c0003 a0002c0005 a0002c0006 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0007t0001 a0001c0014t0001 a0002c0002t0001 a0002c0003t0001 a0002c0005t0002 a0002c0006t0001 a0007c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(222): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0003g0082 a0001c0001t0003g0134 a0001c0001t0003g0152 a0001c0001t0004g0174 a0001c0001t0005g0127 a0001c0007t0001g0135 a0001c0007t0001g0224 a0001c0007t0001g0259 a0001c0014t0001g0156 a0002c0002t0001g0035 a0002c0002t0001g0062 a0002c0002t0001g0191 a0002c0002t0001g0313 a0002c0003t0001g0003 a0002c0003t0001g0024 a0002c0003t0001g0040 a0002c0003t0001g0051 a0002c0003t0001g0223 a0002c0003t0001g0233 a0002c0003t0001g0334 a0002c0005t0002g0018 a0002c0006t0001g0315 a0007c0015t0001g0159	232	378	0.6138	34	c.130 others(49): Show c.130+958_130+959insCGGGGGAGGGGAGTCACGTGGGTGCCGAGG AGGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3647557	G G	GCTCACCC others(27): Show GCTCACCCGTCCTCTCCTGATGCCCCTGGGGGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	378	0.0027	34	c.34 others(45): Show c.3439_*3440insCTCACCCGTCCTCTCCTGATGCCCCTGGGGGTCA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2914		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3647591	G G	GCTCACCC others(27): Show GCTCACCCGTCCTCTCCTGATGCCCCTGGGGGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00639.hp2 others(37): Show HG00438.hp1 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG01175.hp1 HG01346.hp1 HG02004.hp2 HG02027.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp1 HG02293.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03688.hp2 HG04199.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18965.hp2 NA18979.hp1 NA18980.hp2 NA18989.hp1 NA18990.hp1 NA18999.hp2 NA19030.hp1 NA19060.hp1 NA19081.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 a0002c0002t0001 a0002c0003t0001 a0002c0005t0002	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0047 others(35): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0202 a0001c0001t0001g0235 a0001c0001t0001g0247 a0001c0001t0001g0284 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0320 a0001c0001t0001g0343 a0001c0001t0001g0349 a0001c0001t0001g0359 a0001c0001t0004g0174 a0001c0007t0001g0259 a0002c0002t0001g0363 a0002c0003t0001g0040 a0002c0003t0001g0171 a0002c0003t0001g0186 a0002c0003t0001g0223 a0002c0003t0001g0277 a0002c0005t0002g0182	40	378	0.1058	34	c.34 others(45): Show c.3473_*3474insCTCACCCGTCCTCTCCTGATGCCCCTGGGGGTCA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2948		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3647592	C C	CTCACCCG others(27): Show CTCACCCGTCCTCTCCTGATGCCCCTGGGGGTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	378	0.0027	34	c.34 others(45): Show c.3474_*3475insTCACCCGTCCTCTCCTGATGCCCCTGGGGGTCAT	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2949		chr2	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATAGATA others(27): Show GATAGATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG03654.hp1 HG02129.hp2 HG03654.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0209 a0002c0001t0020g0311 a0002c0001t0020g0209 a0002c0001t0020g0311	2	366	0.0055	34	c.78 others(45): Show c.7837_*7838insATATATATATATATATATATATATATATATCTAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02129.hp1 HG00673.hp2 HG02129.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0002 a0001c0003 a0003c0002	a0001c0003t0004 a0003c0002t0010 a0001c0003t0004 a0003c0002t0010	a0001c0003t0004g0278 a0003c0002t0010g0319 a0001c0003t0004g0278 a0003c0002t0010g0319	2	366	0.0055	34	c.78 others(45): Show c.7837_*7838insATATATATATATATATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COMMD10_chr5_116080025_116298287	116129514	A A	ATGTAATA others(27): Show ATGTAATATACATTAGTGTATATATACTATATACT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02055.hp2 HG02165.hp1 others(9): Show HG00735.hp1 HG02055.hp2 HG02165.hp1 HG02280.hp2 HG02723.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG06807.hp2 NA19043.hp1 NA19080.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0016 a0002c0003t0001g0017 others(9): Show a0002c0003t0001g0011 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027	12	350	0.0343	34	c.400 others(51): Show c.400-4554_400-4553insTGTAATATACATTAGTGTATATATACTA TATACT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116129550	A A	ATGTAATA others(27): Show ATGTAATATACATTAGTGTATATATACTATATACT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	350	0.0029	34	c.400 others(51): Show c.400-4518_400-4517insTGTAATATACATTAGTGTATATATACTA TATACT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158495	T T	TCTCCGTC others(27): Show TCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01346.hp2 HG02300.hp1 others(1): Show HG00280.hp2 HG01346.hp2 HG02300.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0313 others(1): Show a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0314	4	350	0.0114	34	c.510 others(53): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCCCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(27): Show TCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0023 a0002c0003t0001g0023	1	350	0.0029	34	c.510 others(53): Show c.510+24324_510+24325insTCCTCTCTCTCCGTCTCCTCTCTCCC CCTCCCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp1 HG01169.hp2 others(6): Show HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01517.hp1 HG03130.hp1 HG04115.hp2 NA18994.hp1 NA19066.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0084 a0001c0001t0001g0217 a0001c0001t0004g0193 others(6): Show a0001c0001t0001g0084 a0001c0001t0001g0217 a0001c0001t0004g0193 a0001c0002t0001g0143 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0339 a0001c0002t0001g0342 a0001c0002t0001g0343	9	350	0.0257	34	c.510 others(53): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02970.hp1 HG03704.hp1 others(2): Show HG01517.hp1 HG02970.hp1 HG03704.hp1 NA18948.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0146 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0146 a0001c0001t0001g0178 a0001c0001t0001g0217	5	286	0.0175	34	c.462 others(53): Show c.462+62916_462+62917insATATATATATATATATATATATATAT ATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01257.hp2 HG01258.hp1 others(21): Show HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01891.hp1 HG02083.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG03098.hp1 NA18612.hp1 NA18949.hp2 NA18950.hp1 NA18963.hp1 NA18975.hp2 NA18977.hp1 NA18999.hp2 NA19005.hp2 NA19030.hp2 NA19074.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0002g0229	24	286	0.0839	34	c.463 others(53): Show c.463-40010_463-40009insATATATATATATATATATATATATAT ATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD9_chr11_36267292_36294424	36270136	C C	CGAGAGAG others(27): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	448	0.0022	34	c.44 others(45): Show c.4495_*4496insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2155		chr11	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(27): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG03209.hp2 NA19083.hp2 others(1): Show HG02083.hp2 HG03209.hp2 NA19083.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0037 a0001c0001t0003g0046 a0001c0001t0003g0219 others(1): Show a0001c0001t0001g0037 a0001c0001t0003g0046 a0001c0001t0003g0219 a0001c0001t0005g0149	4	448	0.0089	34	c.44 others(45): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(27): Show CTTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19068.hp1 HG02040.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0173 a0001c0001t0001g0092 a0001c0001t0001g0173	2	398	0.0050	34	c.976 others(49): Show c.976-215_976-214insAAGAAAGAAAGAAAGAAAGAAAGAAAAAGA AAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02135.hp1 NA18948.hp1 others(2): Show HG00642.hp2 HG02135.hp1 NA18948.hp1 NA18949.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0009g0059	5	300	0.0167	34	c.213 others(53): Show c.2134-4199_2134-4198insATATATATATATATATATATATATAT ATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COPRS_chr17_31846871_31864244	31859356	C C	CGGGGGCG others(27): Show CGGGGGCGGGGCGGCGCAGGGGGCGGGGCGGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00735.hp2 others(14): Show HG00323.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01346.hp1 HG02015.hp1 HG02056.hp1 HG02273.hp1 HG02698.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18970.hp2 NA18986.hp1 NA18989.hp2 NA19007.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0069 a0001c0001t0001g0070	17	372	0.0457	34	c.-15 others(43): Show c.-158_-157insTGCGCCGCCCCGCCCCCTGCGCCGCCCCGCCCCC	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding		113		chr17	TogoVar
COQ8A_chr1_226935294_226992544	226978045	T T	TTGCACAC others(27): Show TTGCACACCCACCGAACACCCGCACACCTTACCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp2 HG01109.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0029 a0001c0001t0001g0033	2	412	0.0049	34	c.730 others(49): Show c.730+549_730+582dupCTTACCCCTGCACACCCACCGAACACCCGC ACAC	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(27): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0061 a0001c0012t0001g0061	1	410	0.0024	34	c.114 others(53): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(27): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0328 a0001c0002t0001g0328	1	410	0.0024	34	c.114 others(53): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTATAT ATATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(27): Show TATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0278 a0001c0004t0001g0278	1	410	0.0024	34	c.114 others(53): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTATATATAT ATATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697874	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02723.hp2 HG01175.hp1 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0001g0256 a0001c0004t0001g0257	2	410	0.0049	34	c.114 others(53): Show c.1144-1821_1144-1820insACTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02895.hp1 HG01496.hp2 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0241 a0001c0004t0001g0260 a0001c0004t0001g0241 a0001c0004t0001g0260	2	410	0.0049	34	c.114 others(53): Show c.1144-1822_1144-1821insGTCTCTCTCCCTCTCTCTCTCTCTCT CTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar

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