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
CNOT9_chr2_218563839_218602080	218583229	GTGTGTCT others(21): Show GTGTGTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0164 a0001c0001t0009g0164	1	322	0.0031	-28	c.320 others(43): Show c.320+145_320+172delGTGTCTCTCTCTCTCTCTCTCTCTCTCT	CNOT9	ENSG00000144580.15	transcript	ENST00000273064.11	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTLN_chr9_17130040_17508923	17295987	AGAGAGAG others(21): Show AGAGAGAGAGAGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01884.hp2 HG01934.hp1 others(18): Show HG00408.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp2 HG02148.hp2 HG02257.hp2 HG02293.hp2 HG02559.hp2 HG02572.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03139.hp1 NA18906.hp1 NA18949.hp2 NA19011.hp1 NA19043.hp2 NA19066.hp1 NA19084.hp2 NA20300.hp2	a0002 a0007 a0016 others(1): Show a0002 a0007 a0016 a0028	a0002c0006 a0002c0013 a0002c0017 others(6): Show a0002c0006 a0002c0013 a0002c0017 a0007c0011 a0007c0022 a0007c0049 a0007c0050 a0016c0021 a0028c0048	a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 others(11): Show a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0013t0001 a0002c0017t0001 a0007c0011t0003 a0007c0011t0004 a0007c0011t0011 a0007c0022t0005 a0007c0049t0004 a0007c0050t0007 a0016c0021t0002 a0016c0021t0008 a0028c0048t0007	a0002c0006t0001g0029 a0002c0006t0001g0030 a0002c0006t0001g0031 others(18): Show a0002c0006t0001g0029 a0002c0006t0001g0030 a0002c0006t0001g0031 a0002c0006t0001g0033 a0002c0006t0001g0041 a0002c0006t0001g0044 a0002c0006t0001g0076 a0002c0006t0002g0032 a0002c0006t0003g0036 a0002c0013t0001g0045 a0002c0017t0001g0196 a0007c0011t0003g0114 a0007c0011t0004g0113 a0007c0011t0011g0112 a0007c0022t0005g0107 a0007c0022t0005g0117 a0007c0049t0004g0116 a0007c0050t0007g0118 a0016c0021t0002g0111 a0016c0021t0008g0115 a0028c0048t0007g0108	21	218	0.0963	-28	c.984 others(45): Show c.984-2201_984-2174delAGAGAGAGAGTGTGTGTGTGTGTGTGTG	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17295989	AGAGAGAG others(21): Show AGAGAGAGAGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02922.hp1 others(2): Show HG02647.hp1 HG02886.hp2 HG02922.hp1 HG03225.hp2 HG03471.hp2	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0025 a0027	a0001c0030 a0002c0046 a0009c0010 others(2): Show a0001c0030 a0002c0046 a0009c0010 a0025c0045 a0027c0051	a0001c0030t0002 a0002c0046t0007 a0009c0010t0002 others(2): Show a0001c0030t0002 a0002c0046t0007 a0009c0010t0002 a0025c0045t0002 a0027c0051t0013	a0001c0030t0002g0048 a0002c0046t0007g0216 a0009c0010t0002g0049 others(2): Show a0001c0030t0002g0048 a0002c0046t0007g0216 a0009c0010t0002g0049 a0025c0045t0002g0046 a0027c0051t0013g0047	5	218	0.0229	-28	c.984 others(45): Show c.984-2199_984-2172delAGAGAGAGTGTGTGTGTGTGTGTGTGTG	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN3_chr3_74257568_74619659	74285790	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02257.hp1 others(6): Show HG01109.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp1 HG02896.hp2 HG02897.hp1 HG03540.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0003c0003t0002 a0003c0003t0007 a0003c0003t0024	a0001c0001t0002g0072 a0001c0001t0003g0029 a0001c0001t0008g0001 others(6): Show a0001c0001t0002g0072 a0001c0001t0003g0029 a0001c0001t0008g0001 a0003c0003t0002g0033 a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0078 a0003c0003t0007g0074 a0003c0003t0024g0075	9	174	0.0517	-28	c.251 others(45): Show c.2518-327_2518-300delATATATATATATATATATATATATATAT	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	19/22			chr3	TogoVar
CNTN3_chr3_74257568_74619659	74460772	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03225.hp1 HG02895.hp1 HG02897.hp2 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0022 a0001c0002 a0005c0022	a0001c0002t0003 a0005c0022t0002 a0001c0002t0003 a0005c0022t0002	a0001c0002t0003g0016 a0001c0002t0003g0055 a0005c0022t0002g0053 a0001c0002t0003g0016 a0001c0002t0003g0055 a0005c0022t0002g0053	3	174	0.0172	-28	c.358 others(47): Show c.358+25656_358+25683delATATATATATATATATATATATATAT AT	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	4/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2677421	GAGAGATC others(21): Show GAGAGATCTATGTATCTATACATAGATAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	116	0.0086	-28	c.56- others(45): Show c.56-58775_56-58748delACATAGATATAGAGATCTATGTATCTAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99723765	TGTGTGTG others(21): Show TGTGTGTGCATGCGTGTGCATGCGCACGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0039 a0002c0002t0004g0039	1	66	0.0152	-28	c.56- others(45): Show c.56-95771_56-95744delCATGCGTGTGCATGCGCACGCGTGTGTG	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1300557	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01952.hp2 HG02486.hp2 others(6): Show HG01884.hp2 HG01952.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0006 others(3): Show a0001c0002 a0001c0005 a0001c0006 a0002c0011 a0002c0014 a0002c0017	a0001c0002t0004 a0001c0005t0001 a0001c0006t0001 others(3): Show a0001c0002t0004 a0001c0005t0001 a0001c0006t0001 a0002c0011t0001 a0002c0014t0001 a0002c0017t0001	a0001c0002t0004g0228 a0001c0005t0001g0182 a0001c0005t0001g0188 others(6): Show a0001c0002t0004g0228 a0001c0005t0001g0182 a0001c0005t0001g0188 a0001c0005t0001g0196 a0001c0005t0001g0230 a0001c0006t0001g0183 a0002c0011t0001g0006 a0002c0014t0001g0232 a0002c0017t0001g0179	9	232	0.0388	-28	c.761 others(45): Show c.761+2588_761+2615delAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146151670	ATATATAT others(21): Show ATATATATATATGTATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 NA19030.hp2 HG01891.hp2 HG02886.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0016 a0001c0001 a0001c0003 a0002c0016	a0001c0001t0006 a0001c0003t0013 a0002c0016t0004 a0001c0001t0006 a0001c0003t0013 a0002c0016t0004	a0001c0001t0006g0009 a0001c0003t0013g0010 a0002c0016t0004g0024 a0001c0001t0006g0009 a0001c0003t0013g0010 a0002c0016t0004g0024	3	40	0.0750	-28	c.97+ others(45): Show c.97+34709_97+34736delGTATATATATATATATGTATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146457481	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19030.hp1 HG03239.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0017 a0001c0001t0001 a0003c0007t0017	a0001c0001t0001g0038 a0003c0007t0017g0031 a0001c0001t0001g0038 a0003c0007t0017g0031	2	40	0.0500	-28	c.98- others(47): Show c.98-316762_98-316735delTATATATATATATATATATATATATA TA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146856281	GATAGATA others(21): Show GATAGATAGATAGATAGATACATACATAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	40	0.0250	-28	c.402 others(47): Show c.402+16381_402+16408delGATAGATAGATAGATACATACATACA TA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146947527	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0033 a0001c0006t0014g0033	1	40	0.0250	-28	c.403 others(47): Show c.403-96376_403-96349delGTGTGTGTGTGTATGTGTGTGTGTGT GT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146947553	GTGTGTAT others(21): Show GTGTGTATATATATATATATATACATATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03239.hp2 HG02896.hp2 HG02897.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0003 a0001c0002t0002 a0001c0004t0003	a0001c0002t0002g0040 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0002t0002g0040 a0001c0004t0003g0035 a0001c0004t0003g0036	3	40	0.0750	-28	c.403 others(47): Show c.403-96352_403-96325delGTGTATATATATATATATATACATAT AT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147225742	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	40	0.0250	-28	c.134 others(49): Show c.1349-74367_1349-74340delGGAAGGAAGGAAGGAAGGAAGGAA GGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147775284	AATATATA others(21): Show AATATATATATTTATATATATTTATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp2 NA19030.hp2 HG02486.hp1 HG02886.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0016 a0001c0001 a0001c0005 a0002c0016	a0001c0001t0007 a0001c0005t0022 a0002c0016t0004 a0001c0001t0007 a0001c0005t0022 a0002c0016t0004	a0001c0001t0007g0020 a0001c0005t0022g0032 a0002c0016t0004g0024 a0001c0001t0007g0020 a0001c0005t0022g0032 a0002c0016t0004g0024	3	40	0.0750	-28	c.209 others(51): Show c.2099-128244_2099-128217delATTTATATATATTTATAAATAT ATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147775338	AATATATA others(21): Show AATATATATATTTATATATATTTATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp2 NA19030.hp2 others(1): Show HG02486.hp1 HG02886.hp2 NA19030.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0016 a0001c0001 a0001c0005 a0002c0016	a0001c0001t0007 a0001c0001t0018 a0001c0005t0022 others(1): Show a0001c0001t0007 a0001c0001t0018 a0001c0005t0022 a0002c0016t0004	a0001c0001t0007g0020 a0001c0001t0018g0001 a0001c0005t0022g0032 others(1): Show a0001c0001t0007g0020 a0001c0001t0018g0001 a0001c0005t0022g0032 a0002c0016t0004g0024	4	40	0.1000	-28	c.209 others(51): Show c.2099-128190_2099-128163delATTTATATATATTTATAAATAT ATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147784494	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0015 a0001c0019t0006g0015	1	40	0.0250	-28	c.209 others(51): Show c.2099-119042_2099-119015delATATATATATATATATATATAT ATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148061946	TAAACAGA others(21): Show TAAACAGATATAGATAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	40	0.0250	-28	c.238 others(49): Show c.2384-56170_2384-56143delAACAGATATAGATAGATAGATAGA TAGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148283284	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03540.hp2 HG02896.hp2 HG02897.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0003 a0001c0003t0004 a0001c0004t0003	a0001c0003t0004g0029 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0003t0004g0029 a0001c0004t0003g0035 a0001c0004t0003g0036	3	40	0.0750	-28	c.347 others(49): Show c.3475+16162_3475+16189delAAAGAAAGAAAGAAAGAAAGGAAG GAAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148366271	CATGTATA others(21): Show CATGTATATATGTATGTGTACATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0035 a0001c0004t0003g0036	2	40	0.0500	-28	c.347 others(49): Show c.3476-17371_3476-17344delATATGTATGTGTACATGTATATAT GTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	TTATATAC others(21): Show TTATATACATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02723.hp2 HG01934.hp2 HG02723.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0002 a0003c0006t0003 a0002c0002t0002 a0003c0006t0003	a0002c0002t0002g0212 a0003c0006t0003g0134 a0002c0002t0002g0212 a0003c0006t0003g0134	2	274	0.0073	-28	c.391 others(47): Show c.391-29507_391-29480delCATATATATATATATATATATATATA TA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124178907	GTTATTTA others(21): Show GTTATTTATTTATTTATTTATTTATTTAT	G G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0013 a0004c0006t0001g0013	1	64	0.0156	-28	c.83- others(45): Show c.83-42775_83-42748delATTTATTTATTTATTTATTTATTTATTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124271677	CTATCTAT others(21): Show CTATCTATCTATCTATCTATCTATCATCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp2 HG03130.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0003 a0001c0002 a0006c0003	a0001c0002t0001 a0006c0003t0008 a0001c0002t0001 a0006c0003t0008	a0001c0002t0001g0064 a0006c0003t0008g0035 a0001c0002t0001g0064 a0006c0003t0008g0035	2	64	0.0313	-28	c.381 others(47): Show c.381+29285_381+29312delTATCTATCTATCTATCTATCTATCAT CT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23			chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124279224	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTCTGT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0058 a0001c0002t0008g0058	1	64	0.0156	-28	c.381 others(47): Show c.381+36844_381+36871delGTGTGTGTGTGTCTGTGTGTGTGTGT GT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124702346	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02886.hp2 HG02922.hp1 others(3): Show HG01069.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011	a0001c0001t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0063 others(3): Show a0001c0001t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0063 a0001c0002t0002g0031 a0001c0002t0002g0060 a0001c0002t0011g0029	6	64	0.0938	-28	c.207 others(49): Show c.2078-44860_2078-44833delTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124713318	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 NA19240.hp2 HG02145.hp2 HG02723.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0001 a0001c0002t0007 a0002c0008t0001 a0001c0002t0001 a0001c0002t0007 a0002c0008t0001	a0001c0002t0001g0064 a0001c0002t0007g0009 a0002c0008t0001g0038 a0001c0002t0001g0064 a0001c0002t0007g0009 a0002c0008t0001g0038	3	64	0.0469	-28	c.207 others(49): Show c.2078-33875_2078-33848delTCTTTCTTTCTTTCTTTCTTTCTT TCTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43691361	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	384	0.0026	-28	c.-39 others(47): Show c.-39+38040_-39+38067delTCCTTCCTTCCTCCCTCCCTCCCTCC CT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691365	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03579.hp1 NA18994.hp2 HG03486.hp2 HG03579.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0194 a0001c0001t0001g0274 a0001c0001t0001g0275	3	384	0.0078	-28	c.-39 others(47): Show c.-39+38036_-39+38063delTCCTTCCTTCCTTCCTCCCTCCCTCC CT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA7_chr1_52679449_52703347	52683621	ATATACAG others(21): Show ATATACAGCATGTCTTTTTGTGACTGGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03453.hp2 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0231 a0001c0001t0019g0232 a0001c0001t0019g0231 a0001c0001t0019g0232	2	416	0.0048	-28	c.40 others(39): Show c.4071_*4098delAGCCAGTCACAAAAAGACATGCTGTATA	COA7	ENSG00000162377.6	transcript	ENST00000371538.5	protein_coding		827		chr1	TogoVar
COG1_chr17_73188055_73213507	73192838	GCGCCCGC others(21): Show GCGCCCGCCCCCGCCCCCTCGCGCCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG03490.hp1 HG03492.hp1 HG01993.hp2 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0019 a0002c0001t0001g0118 a0002c0001t0001g0002 a0002c0001t0001g0019 a0002c0001t0001g0118	3	428	0.0070	-28	c.-23 others(37): Show c.-231_-204delCGCCCGCCCCCGCCCCCTCGCGCCCGCC	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		216		chr17	TogoVar
COG1_chr17_73188055_73213507	73192842	CCGCCCCC others(21): Show CCGCCCCCGCCCCCTCGCGCCCGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02074.hp2 HG02109.hp2 others(11): Show HG02040.hp2 HG02074.hp2 HG02109.hp2 HG02257.hp2 HG03098.hp1 HG03491.hp2 HG03492.hp2 NA18947.hp1 NA18962.hp1 NA18982.hp2 NA18984.hp1 NA19007.hp1 NA19043.hp2 NA19063.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0013 a0002c0001t0001g0014 others(7): Show a0002c0001t0001g0004 a0002c0001t0001g0013 a0002c0001t0001g0014 a0002c0001t0001g0027 a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0056 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0070	14	428	0.0327	-28	c.-22 others(37): Show c.-227_-200delCGCCCCCGCCCCCTCGCGCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		212		chr17	TogoVar
COG1_chr17_73188055_73213507	73192846	CCCCGCCC others(21): Show CCCCGCCCCCTCGCGCCCGCCCCCTCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0104 a0002c0001t0001g0104	1	428	0.0023	-28	c.-22 others(37): Show c.-223_-196delCCCGCCCCCTCGCGCCCGCCCCCTCGCG	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		208		chr17	TogoVar
COG3_chr13_45459939_45541701	45513395	TTATACAT others(21): Show TTATACATATAATATATACATATAAATTA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 NA20300.hp1 HG02572.hp1 HG02615.hp1 NA20300.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153 a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153	3	342	0.0088	-28	c.180 others(47): Show c.1809+1546_1809+1573delCATATAATATATACATATAAATTATA TA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL13A1_chr10_69796906_69964144	69936100	GGGAGGAA others(21): Show GGGAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	324	0.0031	-28	c.177 others(45): Show c.1771-654_1771-627delGAGGAAGGAAGGAAGGAAGGAAGGAAAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120298597	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	218	0.0046	-28	c.431 others(47): Show c.4314+1024_4314+1051delTATATATATATATATATATATATATA TA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	35/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL18A1_chr21_45400165_45518720	45405069	CCCCCTGC others(21): Show CCCCCTGCCCGCGCCCGCCCCGCCCCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02451.hp1 HG02970.hp1 others(2): Show HG01123.hp1 HG02451.hp1 HG02970.hp1 HG03041.hp2 NA18906.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0080 a0001c0087 a0002c0021 others(2): Show a0001c0080 a0001c0087 a0002c0021 a0004c0091 a0009c0016	a0001c0080t0004 a0001c0087t0001 a0002c0021t0002 others(2): Show a0001c0080t0004 a0001c0087t0001 a0002c0021t0002 a0004c0091t0001 a0009c0016t0001	a0001c0080t0004g0057 a0001c0087t0001g0055 a0002c0021t0002g0186 others(2): Show a0001c0080t0004g0057 a0001c0087t0001g0055 a0002c0021t0002g0186 a0004c0091t0001g0056 a0009c0016t0001g0209	5	292	0.0171	-28	c.-16 others(37): Show c.-161_-134delCCCCTGCCCGCGCCCGCCCCGCCCCCTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding		95		chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437484	ACTCACAC others(21): Show ACTCACACTCACACACAGGCACTCTCCTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0018 a0018	a0018c0095 a0018c0095	a0018c0095t0001 a0018c0095t0001	a0018c0095t0001g0146 a0018c0095t0001g0146	1	292	0.0034	-28	c.107 others(47): Show c.107-30756_107-30729delTCACACTCACACACAGGCACTCTCCT GC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437638	ACAGGCAC others(21): Show ACAGGCACTCTCCTGCACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0019 a0019	a0019c0096 a0019c0096	a0019c0096t0015 a0019c0096t0015	a0019c0096t0015g0045 a0019c0096t0015g0045	1	292	0.0034	-28	c.107 others(47): Show c.107-30600_107-30573delGCACTCTCCTGCACACACACACACTC AG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490557	TCTCCGTG others(21): Show TCTCCGTGTGCCCTCTCAGGTCCCTGGGC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0099 a0004c0099	a0004c0099t0003 a0004c0099t0003	a0004c0099t0003g0030 a0004c0099t0003g0030	1	292	0.0034	-28	c.203 others(45): Show c.2031+226_2032-237delTCAGGTCCCTGGGCCTCCGTGTGCCCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	20/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL20A1_chr20_63288186_63339806	63335316	ACCCTTCA others(21): Show ACCCTTCACCACAAGATGGCGGATCCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18945.hp2 NA18947.hp2 NA18966.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0006 a0012 a0013 a0016 a0019 a0020 a0022 a0023 a0025 a0029 a0031 a0032	a0001c0001 a0001c0005 a0001c0011 others(21): Show a0001c0001 a0001c0005 a0001c0011 a0001c0018 a0001c0020 a0001c0031 a0001c0039 a0002c0002 a0002c0048 a0003c0003 a0003c0043 a0005c0007 a0006c0010 a0012c0046 a0013c0047 a0016c0024 a0019c0036 a0020c0037 a0022c0034 a0023c0033 a0025c0028 a0029c0029 a0031c0038 a0032c0040	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(40): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0005t0001 a0001c0011t0001 a0001c0011t0015 a0001c0018t0001 a0001c0020t0041 a0001c0031t0014 a0001c0039t0045 a0002c0002t0001 a0002c0002t0009 a0002c0002t0015 a0002c0002t0019 a0002c0048t0014 a0003c0003t0009 a0003c0043t0007 a0005c0007t0007 a0006c0010t0001 a0012c0046t0037 a0013c0047t0014 a0016c0024t0033 a0019c0036t0001 a0020c0037t0001 a0022c0034t0001 a0023c0033t0001 a0025c0028t0021 a0029c0029t0024 a0031c0038t0011 a0032c0040t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(128): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0007g0041 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0008g0002 a0001c0001t0008g0063 a0001c0001t0008g0087 a0001c0001t0008g0169 a0001c0001t0009g0068 a0001c0001t0009g0152 a0001c0001t0010g0015 a0001c0001t0010g0016 a0001c0001t0010g0231 a0001c0001t0011g0005 a0001c0001t0011g0139 a0001c0001t0021g0070 a0001c0001t0022g0011 a0001c0001t0023g0006 a0001c0001t0023g0151 a0001c0001t0024g0001 a0001c0001t0028g0086 a0001c0001t0034g0047 a0001c0001t0035g0176 a0001c0001t0036g0240 a0001c0001t0038g0150 a0001c0001t0039g0128 a0001c0005t0001g0229 a0001c0011t0001g0212 a0001c0011t0015g0201 a0001c0018t0001g0074 a0001c0020t0041g0069 a0001c0031t0014g0205 a0001c0039t0045g0179 a0002c0002t0001g0023 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0032 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0131 a0002c0002t0001g0243 a0002c0002t0001g0246 a0002c0002t0009g0110 a0002c0002t0009g0127 a0002c0002t0015g0013 a0002c0002t0019g0107 a0002c0002t0019g0242 a0002c0048t0014g0114 a0003c0003t0009g0066 a0003c0043t0007g0137 a0005c0007t0007g0017 a0005c0007t0007g0160 a0006c0010t0001g0190 a0006c0010t0001g0191 a0006c0010t0001g0192 a0012c0046t0037g0119 a0013c0047t0014g0106 a0016c0024t0033g0042 a0019c0036t0001g0052 a0020c0037t0001g0088 a0022c0034t0001g0248 a0023c0033t0001g0187 a0025c0028t0021g0024 a0029c0029t0024g0001 a0031c0038t0011g0140 a0032c0040t0001g0050	157	290	0.5414	-28	c.46 others(39): Show c.4601_*4628delCCCTTCACCACAAGATGGCGGATCCCAG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding		511		chr20	TogoVar
COL20A1_chr20_63288186_63339806	63339675	GTGAATTA others(21): Show GTGAATTACATCATATCCACACAGATGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG02451.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03195.hp2	a0001 a0031 a0001 a0031	a0001c0001 a0031c0038 a0001c0001 a0031c0038	a0001c0001t0011 a0031c0038t0011 a0001c0001t0011 a0031c0038t0011	a0001c0001t0011g0005 a0001c0001t0011g0139 a0031c0038t0011g0140 a0001c0001t0011g0005 a0001c0001t0011g0139 a0031c0038t0011g0140	5	290	0.0172	-28	c.89 others(39): Show c.8960_*8987delTGAATTACATCATATCCACACAGATGAA	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding		4870		chr20	TogoVar
COL21A1_chr6_56051590_56252580	56094197	TCAGCTAA others(21): Show TCAGCTAAATATACAAGTTCATCACTTAG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0262 a0001c0007t0002g0262	1	264	0.0038	-28	c.181 others(47): Show c.1812+7247_1812+7274delCTAAGTGATGAACTTGTATATTTAGC TG	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56130165	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01346.hp2 HG01515.hp2 others(3): Show HG01071.hp1 HG01346.hp2 HG01515.hp2 HG02572.hp1 HG02572.hp2 NA18522.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0002 a0001c0014 a0001c0024 others(2): Show a0001c0002 a0001c0014 a0001c0024 a0006c0011 a0008c0012	a0001c0002t0002 a0001c0014t0010 a0001c0024t0022 others(2): Show a0001c0002t0002 a0001c0014t0010 a0001c0024t0022 a0006c0011t0004 a0008c0012t0004	a0001c0002t0002g0197 a0001c0014t0010g0010 a0001c0024t0022g0148 others(3): Show a0001c0002t0002g0197 a0001c0014t0010g0010 a0001c0024t0022g0148 a0006c0011t0004g0090 a0006c0011t0004g0091 a0008c0012t0004g0030	6	264	0.0227	-28	c.154 others(47): Show c.1543-4044_1543-4017delTATATATATATATATATATATATATA TA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56130184	TATATATA others(21): Show TATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(108): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18981.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19084.hp1 NA19089.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0010 a0012	a0001c0001 a0001c0015 a0001c0018 others(5): Show a0001c0001 a0001c0015 a0001c0018 a0001c0022 a0003c0005 a0009c0020 a0010c0019 a0012c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0015t0001 a0001c0018t0001 a0001c0022t0003 a0003c0005t0001 a0009c0020t0001 a0010c0019t0006 a0012c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0102 a0001c0001t0001g0104 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0003g0029 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0081 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0004g0073 a0001c0001t0004g0084 a0001c0001t0006g0009 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0018 a0001c0001t0008g0036 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0054 a0001c0001t0010g0016 a0001c0001t0011g0007 a0001c0001t0011g0008 a0001c0001t0011g0025 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0015g0057 a0001c0001t0015g0083 a0001c0001t0016g0144 a0001c0001t0016g0237 a0001c0015t0001g0151 a0001c0018t0001g0136 a0001c0022t0003g0063 a0003c0005t0001g0157 a0009c0020t0001g0181 a0010c0019t0006g0024 a0012c0017t0001g0234	111	264	0.4205	-28	c.154 others(47): Show c.1543-4063_1543-4036delTTATATATATATATATATATATATAT AT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138650691	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0047 a0009c0047	a0009c0047t0001 a0009c0047t0001	a0009c0047t0001g0098 a0009c0047t0001g0098	1	158	0.0063	-28	c.333 others(45): Show c.3334-941_3334-914delGTCTATCTATCTATCTATCTATCTATCT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	45/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178372910	CTTTCTTT others(21): Show CTTTCTTTCTCTTTTTCTTTCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(104): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18950.hp1 NA18964.hp1 NA18990.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0011 a0013	a0001c0001 a0001c0004 a0002c0002 others(12): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0009 a0002c0014 a0003c0005 a0003c0007 a0003c0023 a0004c0006 a0004c0011 a0005c0008 a0007c0019 a0011c0013 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0001c0004t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0009t0008 a0002c0014t0003 a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 a0003c0023t0010 a0004c0006t0003 a0004c0006t0004 a0004c0011t0001 a0005c0008t0002 a0007c0019t0005 a0011c0013t0005 a0013c0010t0002	a0001c0001t0001g0002 a0001c0001t0002g0048 a0001c0001t0002g0148 others(104): Show a0001c0001t0001g0002 a0001c0001t0002g0048 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0189 a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0073 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0159 a0001c0001t0003g0170 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0194 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0063 a0001c0001t0004g0069 a0001c0001t0004g0081 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0174 a0001c0001t0004g0184 a0001c0001t0004g0188 a0001c0001t0004g0200 a0001c0001t0004g0204 a0001c0001t0005g0009 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0005g0113 a0001c0001t0005g0144 a0001c0001t0005g0207 a0001c0001t0005g0216 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0230 a0001c0004t0001g0007 a0001c0004t0001g0094 a0001c0004t0004g0110 a0001c0004t0004g0223 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0032 a0002c0002t0001g0040 a0002c0002t0001g0047 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0141 a0002c0002t0001g0180 a0002c0002t0001g0191 a0002c0002t0002g0149 a0002c0002t0009g0225 a0002c0002t0010g0228 a0002c0003t0001g0004 a0002c0003t0001g0129 a0002c0003t0001g0134 a0002c0003t0001g0152 a0002c0003t0002g0034 a0002c0003t0002g0089 a0002c0003t0002g0097 a0002c0003t0002g0112 a0002c0003t0002g0121 a0002c0003t0002g0138 a0002c0003t0002g0140 a0002c0003t0002g0209 a0002c0003t0002g0211 a0002c0003t0003g0088 a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0003g0169 a0002c0003t0003g0195 a0002c0003t0004g0205 a0002c0003t0005g0066 a0002c0003t0005g0068 a0002c0003t0005g0092 a0002c0003t0005g0131 a0002c0003t0005g0146 a0002c0003t0005g0151 a0002c0009t0008g0235 a0002c0014t0003g0124 a0003c0005t0002g0005 a0003c0005t0002g0163 a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0003g0010 a0003c0005t0003g0125 a0003c0005t0003g0156 a0003c0007t0001g0013 a0003c0007t0001g0044 a0003c0023t0010g0236 a0004c0006t0003g0062 a0004c0006t0003g0130 a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0003g0172 a0004c0006t0004g0135 a0004c0006t0004g0136 a0004c0011t0001g0093 a0005c0008t0002g0187 a0007c0019t0005g0160 a0011c0013t0005g0132 a0013c0010t0002g0117	107	236	0.4534	-28	c.362 others(47): Show c.362-66019_362-65992delAAAAAAAAGAAAGAAAAAGAGAAAGA AA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178420535	TCCTCCTC others(21): Show TCCTCCTCCCCTCCCTGAGATGTGACCTC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0059 a0001c0004t0005g0059	1	236	0.0042	-28	c.362 others(49): Show c.362-113644_362-113617delGAGGTCACATCTCAGGGAGGGGAG GAGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178491690	GAAACATC others(21): Show GAAACATCTTGATTTTTTTTTCAATTTTT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0060 a0001c0004t0005g0060	1	236	0.0042	-28	c.361 others(47): Show c.361+68964_361+68991delAAAAATTGAAAAAAAAATCAAGATGT TT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178498205	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18906.hp2 HG02976.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0003 a0002c0014t0003 a0001c0001t0003 a0002c0014t0003	a0001c0001t0003g0116 a0002c0014t0003g0124 a0001c0001t0003g0116 a0002c0014t0003g0124	2	236	0.0085	-28	c.361 others(47): Show c.361+62449_361+62476delATATATATATATATATATATATATAT AT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489652	TCTTTCTT others(21): Show TCTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp2 HG02451.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0151 a0002c0003t0001g0065 a0001c0001t0002g0151 a0002c0003t0001g0065	2	174	0.0115	-28	c.385 others(47): Show c.385+41877_385+41904delCCTTCCTTCCTTCCTTCCTTTCTTTC TT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

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