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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
COL9A3_chr20_62812050_62846159	62825082	A A	AGGGAGGG others(17): Show AGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03654.hp2 NA18985.hp1 others(2): Show HG02056.hp2 HG03654.hp2 NA18985.hp1 NA18994.hp2 NA19004.hp2	a0001 a0008 a0017 a0001 a0008 a0017	a0001c0002 a0008c0019 a0017c0043 a0001c0002 a0008c0019 a0017c0043	a0001c0002t0001 a0008c0019t0001 a0017c0043t0003 a0001c0002t0001 a0008c0019t0001 a0017c0043t0003	a0001c0002t0001g0257 a0008c0019t0001g0353 a0008c0019t0001g0354 others(2): Show a0001c0002t0001g0257 a0008c0019t0001g0353 a0008c0019t0001g0354 a0008c0019t0001g0356 a0017c0043t0003g0357	5	412	0.0121	24	c.630 others(37): Show c.630+84_630+85insGGGGAGGGGCTGGGCTCCGGCGGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825106	A A	AGGGAGGG others(17): Show AGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01346.hp2 others(6): Show HG00438.hp1 HG00673.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG02148.hp1 NA18942.hp1 NA18945.hp2	a0004 a0007 a0004 a0007	a0004c0016 a0004c0017 a0004c0030 others(1): Show a0004c0016 a0004c0017 a0004c0030 a0007c0018	a0004c0016t0001 a0004c0017t0001 a0004c0030t0001 others(2): Show a0004c0016t0001 a0004c0017t0001 a0004c0030t0001 a0007c0018t0001 a0007c0018t0003	a0004c0016t0001g0036 a0004c0016t0001g0037 a0004c0016t0001g0038 others(5): Show a0004c0016t0001g0036 a0004c0016t0001g0037 a0004c0016t0001g0038 a0004c0016t0001g0102 a0004c0017t0001g0101 a0004c0030t0001g0035 a0007c0018t0001g0100 a0007c0018t0003g0014	9	412	0.0218	24	c.630 others(39): Show c.630+108_630+109insGGGGAGGGGCTGGGCTCCGGCGGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(17): Show AGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03130.hp2 HG03516.hp1 others(1): Show HG02897.hp2 HG03130.hp2 HG03516.hp1 HG06807.hp1	a0002 a0002	a0002c0008 a0002c0021 a0002c0048 a0002c0008 a0002c0021 a0002c0048	a0002c0008t0001 a0002c0021t0002 a0002c0021t0004 others(1): Show a0002c0008t0001 a0002c0021t0002 a0002c0021t0004 a0002c0048t0005	a0002c0008t0001g0343 a0002c0021t0002g0342 a0002c0021t0004g0340 others(1): Show a0002c0008t0001g0343 a0002c0021t0002g0342 a0002c0021t0004g0340 a0002c0048t0005g0341	4	412	0.0097	24	c.630 others(39): Show c.630+131_630+132insTGGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825196	G G	GGCGGGAG others(17): Show GGCGGGAGGGAGGGGCTGGGCTCCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0343 a0002c0008t0001g0343	1	412	0.0024	24	c.630 others(39): Show c.630+179_630+180insGAGGGAGGGGCTGGGCTCCTGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18964.hp2 HG01515.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0084 a0001c0001t0002g0086	2	388	0.0052	24	c.148 others(41): Show c.148+2201_148+2202insAAAAAAAATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	388	0.0026	24	c.148 others(41): Show c.148+2201_148+2202insAAAAAATATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19074.hp2 HG03139.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0045 a0001c0001t0021g0367 a0001c0001t0003g0045 a0001c0001t0021g0367	2	388	0.0052	24	c.292 others(39): Show c.292+378_292+379insGAGAGAGAAAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3592283	C C	CGGAGAGG others(17): Show CGGAGAGGGAGAGGGAGAGGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	378	0.0027	24	c.-29 others(35): Show c.-2912_-2911insGGAGAGGGAGAGGGAGAGGGAGAG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2828		chr2	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02132.hp2 HG02615.hp1 others(3): Show HG02015.hp2 HG02132.hp2 HG02615.hp1 HG02922.hp1 HG03540.hp1 HG03669.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0005 a0002c0007 others(1): Show a0001c0004 a0001c0005 a0002c0007 a0003c0002	a0001c0004t0227 a0001c0005t0248 a0002c0007t0230 others(2): Show a0001c0004t0227 a0001c0005t0248 a0002c0007t0230 a0003c0002t0010 a0003c0002t0096	a0001c0004t0227g0288 a0001c0005t0248g0357 a0002c0007t0230g0270 others(3): Show a0001c0004t0227g0288 a0001c0005t0248g0357 a0002c0007t0230g0270 a0003c0002t0010g0043 a0003c0002t0010g0282 a0003c0002t0096g0027	6	366	0.0164	24	c.78 others(35): Show c.7837_*7838insATATATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183977812	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03688.hp2 NA19079.hp1 HG02602.hp1 HG03688.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0029 a0001c0001t0003 a0001c0001t0004 a0001c0001t0029	a0001c0001t0003g0320 a0001c0001t0004g0100 a0001c0001t0029g0055 a0001c0001t0003g0320 a0001c0001t0004g0100 a0001c0001t0029g0055	3	340	0.0088	24	c.374 others(39): Show c.374+597_374+598insCTCTCTCTCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184031817	A A	ATCCTTCC others(17): Show ATCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	340	0.0029	24	c.263 others(41): Show c.263+5254_263+5277dupAGGAAGGAAGGAAGGAAGGAAGGA	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
COMMD10_chr5_116080025_116298287	116140231	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02145.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0331 a0001c0001t0001g0332	2	350	0.0057	24	c.510 others(41): Show c.510+6055_510+6078dupGTGTGTGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18522.hp1 NA18992.hp1 others(3): Show HG00408.hp2 NA18522.hp1 NA18992.hp1 NA18994.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0195 a0001c0001t0001g0219 a0001c0001t0001g0236 others(3): Show a0001c0001t0001g0195 a0001c0001t0001g0219 a0001c0001t0001g0236 a0001c0001t0001g0258 a0002c0003t0001g0028 a0002c0003t0001g0067	6	350	0.0171	24	c.510 others(43): Show c.510+78322_510+78345dupGTGTGTGTGTGTGTGTGTGTGTGT	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(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00733.hp2 others(13): Show HG00099.hp2 HG00544.hp1 HG00733.hp2 HG00735.hp2 HG01106.hp1 HG01993.hp1 HG02523.hp1 HG03492.hp2 HG03710.hp1 HG03942.hp2 HG06807.hp1 NA18942.hp2 NA18946.hp1 NA19063.hp1 NA19065.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0087 a0001c0001t0001g0223 a0001c0001t0001g0228 others(13): Show a0001c0001t0001g0087 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0257 a0001c0002t0001g0085 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0147 a0001c0002t0001g0155 a0001c0002t0001g0179 a0001c0002t0001g0345	16	350	0.0457	24	c.510 others(43): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	61920965	G G	GTATATAT others(17): Show GTATATATATATATGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	286	0.0035	24	c.180 others(43): Show c.180+15120_180+15121insGTGTGTATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62019023	T T	TTCCCTCC others(17): Show TTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp2 NA18977.hp1 others(2): Show HG03130.hp1 HG03209.hp2 NA18977.hp1 NA18999.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248 others(2): Show a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0002g0253 a0001c0001t0003g0271	5	286	0.0175	24	c.462 others(43): Show c.462+18064_462+18065insCTCCCTCCCTCCCTCCCTCCCTCC	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62019038	C C	CCTCCCTC others(17): Show CCTCCCTCCCTCCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp2 HG03579.hp1 HG02965.hp1 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0005t0001g0126 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0005t0001g0126	3	286	0.0105	24	c.462 others(43): Show c.462+18064_462+18065insCTCCCTCCCTCCCTCTCTCCCTCC	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00621.hp1 others(10): Show HG00140.hp1 HG00558.hp2 HG00621.hp1 HG01109.hp2 HG01257.hp2 HG01258.hp1 HG02886.hp1 HG03139.hp2 NA18946.hp1 NA18947.hp1 NA18955.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0077 others(10): Show a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0164 a0001c0001t0001g0186 a0001c0001t0001g0216 a0001c0001t0003g0266	13	286	0.0455	24	c.462 others(43): Show c.462+62893_462+62916dupATATATATATATATATATATATAT	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(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02976.hp1 others(2): Show HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0260 others(2): Show a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0003g0261	5	286	0.0175	24	c.463 others(43): Show c.463-40010_463-40009insATATATATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(17): Show TAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG03579.hp2 HG04204.hp1 others(1): Show HG02074.hp1 HG03579.hp2 HG04204.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0001g0154 a0001c0001t0001g0179 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0154 a0001c0001t0001g0179 a0001c0001t0003g0212	4	448	0.0089	24	c.44 others(35): Show c.4471_*4494dupCTCTCTCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMP_chr19_18777773_18796305	18786763	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	398	0.0025	24	c.113 others(41): Show c.1136-137_1136-114dupAAAAAAAAAAAAAAAAAAAAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	10/18			chr19	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(17): Show CTTTTTCTTTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	398	0.0025	24	c.976 others(39): Show c.976-215_976-214insAAGAAAGAAAAAGAAAAAGAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp2 HG01167.hp2 others(15): Show HG00597.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG02080.hp1 HG02145.hp1 HG02965.hp2 HG03139.hp1 HG03492.hp2 HG03688.hp2 HG03942.hp1 HG04228.hp2 NA18967.hp2 NA18982.hp1 NA18990.hp2 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0065 others(15): Show a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0007g0002 a0001c0002t0002g0019	18	300	0.0600	24	c.213 others(43): Show c.2134-4222_2134-4199dupATATATATATATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02886.hp2 HG03225.hp1 others(2): Show HG01099.hp1 HG02886.hp2 HG03225.hp1 NA18955.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0151 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0236 a0001c0001t0001g0242	5	300	0.0167	24	c.213 others(43): Show c.2134-8551_2134-8528dupTGTGTGTGTGTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175976270	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	300	0.0033	24	c.213 others(45): Show c.2133+10649_2133+10672dupAAAAAAAAAAAAAAAAAAAAAAAA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176028696	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18939.hp2 NA19068.hp1 others(1): Show HG03654.hp2 NA18939.hp2 NA19068.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0065 a0001c0001t0001g0101 a0001c0001t0001g0133 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0101 a0001c0001t0001g0133 a0001c0001t0005g0275	4	300	0.0133	24	c.161 others(43): Show c.1613-1032_1613-1009dupATATATATATATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	14/19			chr1	TogoVar
COPS3_chr17_17241616_17286246	17255839	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	352	0.0028	24	c.937 others(39): Show c.937-918_937-895dupATTTATTTATTTATTTATTTATTT	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	8/11			chr17	TogoVar
COPS7A_chr12_6719046_6736865	6733399	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG02809.hp2 others(1): Show HG00738.hp1 HG01169.hp1 HG02809.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0012 a0001c0002t0004g0012	4	474	0.0084	24	c.23 others(35): Show c.2360_*2361insAAAAAAAAAAAAAAAAAAAAAAAG	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1535		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54323622	C C	CTCTCTCT others(17): Show CTCTCTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	368	0.0027	24	c.-15 others(35): Show c.-1542_-1541insTCTCTCTTTCTTTCTTTCTTTCTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1508		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54323622	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG03017.hp1 NA19060.hp2 HG02135.hp1 HG03017.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0098 a0001c0001t0002g0062 a0001c0001t0001g0001 a0001c0001t0001g0098 a0001c0001t0002g0062	3	368	0.0082	24	c.-15 others(35): Show c.-1542_-1541insTCTTTCTTTCTTTCTTTCTTTCTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1508		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326124	A A	AATTATTA others(17): Show AATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	368	0.0027	24	c.18+ others(37): Show c.18+950_18+973dupATTATTATTATTATTATTATTATT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ2_chr17_48021167_48042797	48026119	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02647.hp2 others(2): Show HG01516.hp1 HG01517.hp2 HG02647.hp2 HG02896.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0019 a0002c0002t0002g0023 a0002c0002t0002g0024	5	396	0.0126	24	c.30 others(33): Show c.308_*309insGTGTGTGTGTGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		47		chr17	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01433.hp2 others(12): Show HG01069.hp1 HG01071.hp1 HG01433.hp2 HG01516.hp1 HG01952.hp1 HG02015.hp1 HG02080.hp1 HG02155.hp2 HG02818.hp1 HG03139.hp1 HG03516.hp2 NA18939.hp2 NA18949.hp1 NA18987.hp2 NA19075.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0014 a0002c0003t0002 a0002c0003t0014	a0002c0003t0002g0010 a0002c0003t0002g0026 a0002c0003t0002g0050 others(6): Show a0002c0003t0002g0010 a0002c0003t0002g0026 a0002c0003t0002g0050 a0002c0003t0002g0052 a0002c0003t0002g0062 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0070 a0002c0003t0014g0010	15	372	0.0403	24	c.576 others(39): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ7_chr16_19062614_19085095	19077604	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0059 a0002c0003t0002g0059	1	372	0.0027	24	c.576 others(39): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTTTTTTTC	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5			chr16	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATAGAGA others(17): Show TATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18747.hp1 NA18942.hp1 others(1): Show HG01515.hp1 NA18747.hp1 NA18942.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0305 a0001c0002t0001g0317 others(1): Show a0001c0002t0001g0041 a0001c0002t0001g0305 a0001c0002t0001g0317 a0001c0002t0001g0338	4	410	0.0098	24	c.114 others(43): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(17): Show TATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0275	1	410	0.0024	24	c.114 others(43): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(17): Show TATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18998.hp1 NA18957.hp2 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0307 a0001c0005t0001g0049 a0001c0002t0001g0307 a0001c0005t0001g0049	2	410	0.0049	24	c.114 others(43): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAAAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0228 a0001c0018t0003g0228	1	410	0.0024	24	c.114 others(43): Show c.1144-1822_1144-1821insGTCTCTCTCTTTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18612.hp1 NA18943.hp1 others(10): Show HG02293.hp2 NA18612.hp1 NA18943.hp1 NA18964.hp1 NA18974.hp1 NA18992.hp1 NA18999.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19074.hp2 NA19085.hp1 NA19090.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0001c0003 a0001c0019 others(1): Show a0001c0002 a0001c0003 a0001c0019 a0009c0016	a0001c0002t0001 a0001c0003t0001 a0001c0019t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0019t0001 a0009c0016t0001	a0001c0002t0001g0014 a0001c0002t0001g0037 a0001c0002t0001g0038 others(6): Show a0001c0002t0001g0014 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0300 a0001c0002t0001g0309 a0001c0002t0001g0318 a0001c0003t0001g0223 a0001c0019t0001g0332 a0009c0016t0001g0197	13	410	0.0317	24	c.114 others(43): Show c.1144-1822_1144-1821insGTCTCTCTCTCTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0077 a0001c0005t0001g0077	1	410	0.0024	24	c.114 others(43): Show c.1144-1822_1144-1821insGCCTCTCTCTCTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	264	0.0038	24	c.254 others(41): Show c.2540+474_2540+475insTATATATATATATATAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	264	0.0038	24	c.254 others(41): Show c.2540+474_2540+475insTATATATATATAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORO1C_chr12_108640109_108736518	108715667	T T	TGCAGAAC others(17): Show TGCAGAACCATATAAAATCGCCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(266): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0003 a0003c0004 others(3): Show a0001c0001 a0002c0003 a0003c0004 a0004c0005 a0005c0007 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0002c0003t0001 a0003c0004t0014 a0004c0005t0001 a0005c0007t0001 a0006c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(261): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0261 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0053 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0195 a0001c0001t0002g0233 a0001c0001t0004g0128 a0001c0001t0004g0232 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0267 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0296 a0001c0001t0005g0184 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0006g0130 a0001c0001t0006g0148 a0001c0001t0006g0162 a0001c0001t0006g0182 a0001c0001t0009g0297 a0001c0001t0010g0235 a0001c0001t0011g0055 a0001c0001t0012g0133 a0001c0001t0013g0132 a0001c0001t0015g0131 a0001c0001t0018g0268 a0001c0001t0019g0102 a0001c0001t0021g0321 a0002c0003t0001g0002 a0003c0004t0014g0134 a0004c0005t0001g0067 a0005c0007t0001g0047 a0006c0008t0001g0010	269	326	0.8252	24	c.-5- others(41): Show c.-5-14345_-5-14344insTCAGGCGATTTTATATGGTTCTGC	CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	1/10			chr12	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	342	0.0029	24	c.49 others(35): Show c.4975_*4976insAAAAAAAAAAAAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1176		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98119808	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03453.hp2 NA18522.hp2 HG01109.hp1 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0276 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0276	3	342	0.0088	24	c.49 others(35): Show c.4965_*4966insAAAAAAAAAAAAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1166		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01168.hp1 others(20): Show HG00639.hp1 HG01109.hp2 HG01168.hp1 HG02015.hp2 HG02055.hp1 HG02717.hp2 HG02809.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18971.hp1 NA18981.hp1 NA18981.hp2 NA18992.hp1 NA19005.hp2 NA19009.hp1 NA19070.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0018 a0001c0003t0051 a0001c0006t0027 a0001c0006t0044	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0027 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0129 a0001c0001t0001g0184 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0002g0220 a0001c0001t0003g0139 a0001c0001t0006g0310 a0001c0001t0006g0319 a0001c0001t0015g0320 a0001c0001t0018g0323 a0001c0003t0051g0318 a0001c0006t0027g0080 a0001c0006t0044g0140	23	342	0.0673	24	c.201 others(41): Show c.201+3130_201+3131insTATATATATATATATATATATACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02886.hp2 NA19084.hp1 HG01952.hp2 HG02886.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0063 a0001c0001t0003g0295 a0001c0001t0004g0158 a0001c0001t0001g0063 a0001c0001t0003g0295 a0001c0001t0004g0158	3	342	0.0088	24	c.201 others(41): Show c.201+3130_201+3131insTATATATATATATATATATACACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154352	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	342	0.0029	24	c.201 others(41): Show c.201+3107_201+3108insGTATATATATATATATATATATAT	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
COTL1_chr16_84560596_84623078	84581163	A A	ATATGTAT others(17): Show ATATGTATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02647.hp1 HG02717.hp1 others(7): Show HG00639.hp1 HG02647.hp1 HG02717.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03704.hp1 NA18993.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0001t0001 a0001c0001t0003 a0001c0001t0026	a0001c0001t0001g0057 a0001c0001t0001g0138 a0001c0001t0001g0215 others(7): Show a0001c0001t0001g0057 a0001c0001t0001g0138 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0003g0222 a0001c0001t0003g0291 a0001c0001t0003g0316 a0001c0001t0026g0253	10	440	0.0227	24	c.318 others(41): Show c.318+8941_318+8942insCATACATACATACATACATACATA	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	3/3			chr16	TogoVar
COTL1_chr16_84560596_84623078	84615853	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp1 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0256 a0001c0001t0004g0255 a0001c0001t0001g0256 a0001c0001t0004g0255	2	440	0.0046	24	c.160 others(41): Show c.160+1624_160+1647dupCACACACACACACACACACACACA	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar

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