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
CNTN1_chr12_40687439_41077415	40813038	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp1 others(16): Show HG00140.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG02015.hp2 HG02071.hp1 HG02486.hp2 HG03195.hp1 HG03225.hp2 HG03516.hp1 HG03654.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0003t0005 a0001c0005t0002 a0001c0005t0025	a0001c0001t0002g0087 a0001c0001t0002g0158 a0001c0001t0003g0084 others(16): Show a0001c0001t0002g0087 a0001c0001t0002g0158 a0001c0001t0003g0084 a0001c0001t0003g0154 a0001c0001t0004g0093 a0001c0001t0004g0179 a0001c0001t0005g0020 a0001c0001t0005g0135 a0001c0001t0006g0140 a0001c0001t0007g0002 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0102 a0001c0002t0001g0121 a0001c0002t0001g0189 a0001c0003t0005g0155 a0001c0005t0002g0207 a0001c0005t0002g0210 a0001c0005t0025g0052	19	230	0.0826	27	c.-76 others(46): Show c.-76-95319_-76-95318insTTTCTTTCTTTCTTTCTTTCTTTCTT T	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23			chr12	TogoVar
CNTN1_chr12_40687439_41077415	40831081	A A	ATATACTA others(20): Show ATATACTATATATACTATACATATATAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02895.hp2 others(2): Show HG02145.hp1 HG02572.hp2 HG02895.hp2 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0007 a0001c0003t0016 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0003t0016 a0001c0004t0007	a0001c0001t0002g0059 a0001c0001t0007g0058 a0001c0003t0016g0226 others(2): Show a0001c0001t0002g0059 a0001c0001t0007g0058 a0001c0003t0016g0226 a0001c0004t0007g0003 a0001c0004t0007g0004	5	230	0.0217	27	c.-76 others(46): Show c.-76-77260_-76-77234dupATACATATATAGTATACTATATATAC T	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01981.hp2 others(2): Show HG00323.hp2 HG00642.hp2 HG01981.hp2 HG02486.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0110 a0001c0002t0001g0013 a0001c0002t0001g0121 others(2): Show a0001c0001t0002g0110 a0001c0002t0001g0013 a0001c0002t0001g0121 a0001c0002t0001g0163 a0001c0002t0001g0189	5	230	0.0217	27	c.-76 others(46): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	41056891	T T	TATATTTA others(20): Show TATATTTAGATATTTATAAATATTTATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01496.hp2 HG02004.hp2 others(2): Show HG01069.hp1 HG01496.hp2 HG02004.hp2 HG02148.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0105 a0001c0001t0001g0208 a0001c0002t0001g0142 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0208 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0147	5	230	0.0217	27	c.298 others(48): Show c.2981-13017_2981-12991dupTATAATATTTAGATATTTATAAAT ATT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	41057019	T T	TGATATTT others(20): Show TGATATTTATAAATATTATAAATATTTA	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA19062.hp2 HG02897.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0022 a0001c0002t0001 a0001c0002t0022	a0001c0002t0001g0044 a0001c0002t0022g0172 a0001c0002t0001g0044 a0001c0002t0022g0172	2	230	0.0087	27	c.298 others(48): Show c.2981-12866_2981-12840dupAATATTTAGATATTTATAAATATT ATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN3_chr3_74257568_74619659	74558982	C C	CAATAATA others(20): Show CAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0158 a0002c0005t0005g0158	1	174	0.0058	27	c.-80 others(46): Show c.-80-37791_-80-37790insATTATTATTATTATTATTATTATTAT T	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	1/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2520259	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0080 a0001c0002t0007g0080	1	116	0.0086	27	c.-88 others(46): Show c.-88-51152_-88-51126dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2534819	A A	ATGCTGCT others(20): Show ATGCTGCTGCTGCTGCTGCTGCTGCTGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02572.hp1 others(4): Show HG01884.hp2 HG02258.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp1 HG03516.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0005t0001 a0001c0007t0003 a0001c0007t0004	a0001c0001t0009g0052 a0001c0002t0001g0110 a0001c0002t0002g0063 others(4): Show a0001c0001t0009g0052 a0001c0002t0001g0110 a0001c0002t0002g0063 a0001c0003t0003g0070 a0001c0005t0001g0090 a0001c0007t0003g0034 a0001c0007t0004g0066	7	116	0.0603	27	c.-88 others(46): Show c.-88-36580_-88-36579insCTGCTGCTGCTGCTGCTGCTGCTGCT G	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2705809	T T	TATATATA others(20): Show TATATATAATATATAATAAATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02615.hp1 others(5): Show HG01243.hp2 HG02451.hp1 HG02615.hp1 HG02809.hp2 HG02897.hp2 HG03471.hp1 HG03486.hp1 NA19043.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0023 a0003c0019 a0009c0027	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0005t0010 a0001c0023t0004 a0003c0019t0002 a0009c0027t0001	a0001c0001t0002g0086 a0001c0001t0003g0006 a0001c0001t0004g0081 others(5): Show a0001c0001t0002g0086 a0001c0001t0003g0006 a0001c0001t0004g0081 a0001c0002t0002g0102 a0001c0005t0010g0085 a0001c0023t0004g0041 a0003c0019t0002g0031 a0009c0027t0001g0007	8	116	0.0690	27	c.56- others(44): Show c.56-30388_56-30362dupAATATATATAATATATAATATATAATA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99201351	T T	TTCCTTCC others(20): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01169.hp1 HG02132.hp2 others(4): Show HG01099.hp1 HG01169.hp1 HG02132.hp2 HG02976.hp2 NA19070.hp2 NA20300.hp1 NA20300.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0012	a0001c0001 a0004c0004 a0005c0005 others(1): Show a0001c0001 a0004c0004 a0005c0005 a0012c0013	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0004c0004t0002 a0005c0005t0001 a0012c0013t0008	a0001c0001t0004g0010 a0001c0001t0005g0048 a0001c0001t0009g0043 others(4): Show a0001c0001t0004g0010 a0001c0001t0005g0048 a0001c0001t0009g0043 a0001c0001t0014g0016 a0004c0004t0002g0051 a0005c0005t0001g0017 a0012c0013t0008g0031	7	66	0.1061	27	c.-20 others(50): Show c.-209-123994_-209-123993insCCTTCCTTCCTTCCTTCCTTCC TTCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99727312	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02258.hp2 NA18939.hp1 HG01081.hp1 HG02258.hp2 NA18939.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0017 a0005c0005t0003 a0005c0005t0018 a0003c0003t0017 a0005c0005t0003 a0005c0005t0018	a0003c0003t0017g0065 a0005c0005t0003g0045 a0005c0005t0018g0028 a0003c0003t0017g0065 a0005c0005t0003g0045 a0005c0005t0018g0028	3	66	0.0455	27	c.56- others(44): Show c.56-92210_56-92209insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1245301	T T	TATAACAT others(20): Show TATAACATATATAACATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0223 a0001c0006t0001g0223	1	232	0.0043	27	c.358 others(46): Show c.358+17311_358+17312insACATATATAACATATATATATAACAT A	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1280459	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03669.hp1 HG01517.hp2 HG03669.hp1	a0001 a0001	a0001c0007 a0001c0009 a0001c0007 a0001c0009	a0001c0007t0002 a0001c0009t0001 a0001c0007t0002 a0001c0009t0001	a0001c0007t0002g0032 a0001c0009t0001g0114 a0001c0007t0002g0032 a0001c0009t0001g0114	2	232	0.0086	27	c.454 others(44): Show c.454+1974_454+1975insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1332526	G G	GGAAGGAA others(20): Show GGAAGGAAGGAAGGGGCGAGCAAGGAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG03209.hp1 others(1): Show HG02572.hp1 HG02809.hp2 HG03209.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0001t0001 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0198 a0001c0005t0001g0005 a0001c0005t0001g0215 others(1): Show a0001c0001t0001g0198 a0001c0005t0001g0005 a0001c0005t0001g0215 a0001c0006t0001g0162	4	232	0.0172	27	c.136 others(46): Show c.1364+2597_1364+2598insAGGAAGGGGCGAGCAAGGAATGAAGG A	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146665788	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0004 a0001c0004t0005g0004	1	40	0.0250	27	c.98- others(46): Show c.98-108473_98-108472insAAAAAAAAAAAAAAAACAAAAAAAAA A	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146712067	A A	AGTATACA others(20): Show AGTATACATATCTTATGTATACATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03239.hp1 HG02886.hp1 HG03239.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0007 a0001c0003 a0003c0007	a0001c0003t0013 a0003c0007t0017 a0001c0003t0013 a0003c0007t0017	a0001c0003t0013g0010 a0003c0007t0017g0031 a0001c0003t0013g0010 a0003c0007t0017g0031	2	40	0.0500	27	c.98- others(44): Show c.98-62197_98-62196insTATCTTATGTATACATATATGTATACA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146712283	T T	TGTATACA others(20): Show TGTATACATATCTTATGTATACTATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02976.hp1 others(2): Show HG02451.hp1 HG02630.hp2 HG02976.hp1 HG03139.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0010 others(1): Show a0001c0002 a0001c0008 a0001c0010 a0001c0015	a0001c0002t0001 a0001c0002t0002 a0001c0008t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0008t0001 a0001c0010t0002 a0001c0015t0001	a0001c0002t0001g0007 a0001c0002t0002g0013 a0001c0008t0001g0025 others(2): Show a0001c0002t0001g0007 a0001c0002t0002g0013 a0001c0008t0001g0025 a0001c0010t0002g0014 a0001c0015t0001g0011	5	40	0.1250	27	c.98- others(44): Show c.98-61906_98-61880dupGTATACATATCTTATGTATACTATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0012 a0001c0018t0002g0012	1	40	0.0250	27	c.225 others(48): Show c.2255+15741_2255+15742insCTTTCTTTTTTTTTTTTTTTTTTT TTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41956387	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02486.hp2 HG03669.hp2 HG01255.hp1 HG02486.hp2 HG03669.hp2	a0001 a0006 a0029 a0001 a0006 a0029	a0001c0046 a0006c0007 a0029c0045 a0001c0046 a0006c0007 a0029c0045	a0001c0046t0016 a0006c0007t0011 a0029c0045t0002 a0001c0046t0016 a0006c0007t0011 a0029c0045t0002	a0001c0046t0016g0015 a0006c0007t0011g0021 a0029c0045t0002g0019 a0001c0046t0016g0015 a0006c0007t0011g0021 a0029c0045t0002g0019	3	108	0.0278	27	c.187 others(46): Show c.1877-3002_1877-3001insATTATTATTATTATTATTATTATTAT T	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	12/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41981892	C C	CAATAATA others(20): Show CAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0001 a0016c0017t0001	a0016c0017t0001g0042 a0016c0017t0001g0042	1	108	0.0093	27	c.147 others(46): Show c.1477+4275_1477+4276insATTATTATTATTATTATTATTATTAT T	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42133738	C C	CTTTTTTT others(20): Show CTTTTTTTGTGTGAAATGAATTATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0030 a0004c0004t0005g0030	1	108	0.0093	27	c.-46 others(38): Show c.-4645_-4644insATTTATAATTCATTTCACACAAAAAAA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding		4313		chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0055 a0004c0007t0004g0055	1	274	0.0037	27	c.133 others(46): Show c.1334-1182_1334-1181insAAAAAAAAAAAAATATATATATATAT A	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0002 a0004c0027t0002	a0004c0027t0002g0234 a0004c0027t0002g0234	1	274	0.0037	27	c.133 others(46): Show c.1334-1182_1334-1181insAAAAAAAAAAATATATATATATATAT A	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76488457	T T	TCACAGAA others(20): Show TCACAGAATTTAGCCTGCCTCTCTAATC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18998.hp2 NA19012.hp1 NA18981.hp1 NA18998.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0180 a0001c0001t0012g0117 a0001c0001t0012g0179 a0001c0001t0003g0180 a0001c0001t0012g0117 a0001c0001t0012g0179	3	274	0.0110	27	c.188 others(46): Show c.1883-1227_1883-1226insCAGAATTTAGCCTGCCTCTCTAATCC A	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124105046	T T	TAAGCATA others(20): Show TAAGCATATAAAGCATATAAAGCATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	64	0.0156	27	c.82+ others(44): Show c.82+79326_82+79327insCATATAAAGCATATAAAGCATATAAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124485631	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp1 HG03453.hp2 others(2): Show HG02451.hp1 HG02970.hp1 HG03453.hp2 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0002t0001g0016 a0001c0002t0001g0046 a0001c0002t0002g0060 others(2): Show a0001c0002t0001g0016 a0001c0002t0001g0046 a0001c0002t0002g0060 a0001c0002t0004g0044 a0001c0002t0004g0047	5	64	0.0781	27	c.106 others(48): Show c.1062+10752_1062+10753insAAAAAAAAAAAAAAAAAGAAGAAG AAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(20): Show CTTTTTCTTTTTCTCTTTGTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG03453.hp1 others(3): Show HG02886.hp1 HG02922.hp1 HG03453.hp1 HG03471.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011	a0001c0001t0003g0006 a0001c0002t0001g0054 a0001c0002t0002g0030 others(3): Show a0001c0001t0003g0006 a0001c0002t0001g0054 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0003g0004 a0001c0002t0011g0029	6	64	0.0938	27	c.175 others(46): Show c.1756+8209_1756+8210insCTTTTTCTCTTTGTTTTCTTTTTTTT T	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706795	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp1 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0003 a0001c0001t0009 a0001c0002t0003	a0001c0001t0009g0061 a0001c0002t0003g0004 a0001c0001t0009g0061 a0001c0002t0003g0004	2	64	0.0313	27	c.207 others(48): Show c.2078-40432_2078-40431insAAGAAGAAGAAGAAGAAGAAGGAG GAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706880	A A	AAGAAGAG others(20): Show AAGAAGAGGAAGAGGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01069.hp2 others(36): Show HG00423.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01261.hp1 HG01891.hp2 HG02145.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03704.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0006c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0016 a0002c0004t0001 a0006c0003t0008	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0026 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0003g0006 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0006g0025 a0001c0001t0007g0039 a0001c0001t0009g0061 a0001c0001t0015g0036 a0001c0001t0018g0021 a0001c0001t0020g0014 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0046 a0001c0002t0001g0054 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0002g0031 a0001c0002t0003g0004 a0001c0002t0003g0056 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0006g0028 a0001c0002t0010g0032 a0001c0002t0011g0029 a0001c0002t0012g0018 a0001c0002t0016g0055 a0002c0004t0001g0001 a0006c0003t0008g0035	39	64	0.6094	27	c.207 others(48): Show c.2078-40329_2078-40328insGAGAAGGAGAAGAGGAAGAGGAAG AAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706894	G G	GAAGAAGG others(20): Show GAAGAAGGAGAAGGAGAAGAGGAAGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 NA19240.hp2 others(1): Show HG02723.hp2 HG02922.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0007 a0001c0001t0002 a0001c0002t0001 a0001c0002t0007	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0002t0001g0064 others(1): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0002t0001g0064 a0001c0002t0007g0009	4	64	0.0625	27	c.207 others(48): Show c.2078-40329_2078-40328insGAGAAGGAGAAGAGGAAGAGAAAG AAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43637425	C C	CAGGCCTA others(20): Show CAGGCCTACTCTCACTTACCTTTTATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0348 a0001c0001t0002g0348	1	384	0.0026	27	c.21 others(38): Show c.2156_*2157insTCATAAAAGGTAAGTGAGAGTAGGCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding		1831		chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19063.hp2 HG01884.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0142 a0001c0001t0001g0146	2	384	0.0052	27	c.-38 others(46): Show c.-38-15452_-38-15451insCTCTCTCTCTCTCTCTCTCTCTCTCT C	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691265	A A	AAAAGAAA others(20): Show AAAAGAAAAGAAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	384	0.0026	27	c.-39 others(46): Show c.-39+38163_-39+38164insCTTTCTTTCTTTTCTTTTCTTTTCTT T	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COBLL1_chr2_164675188_164846823	164818716	T T	TGTATATG others(20): Show TGTATATGTACTTATGTAAACATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0032 a0009c0034t0032	a0009c0034t0032g0024 a0009c0034t0032g0024	1	212	0.0047	27	c.41+ others(44): Show c.41+22439_41+22440insTATATATGTTTACATAAGTACATATAC	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG01975.hp1 others(11): Show HG01243.hp2 HG01261.hp1 HG01975.hp1 HG02015.hp2 HG02056.hp1 HG02145.hp2 HG02258.hp1 HG02809.hp1 HG02809.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp1 NA18964.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0010 a0028 a0030 a0032	a0001c0004 a0001c0015 a0002c0007 others(7): Show a0001c0004 a0001c0015 a0002c0007 a0003c0011 a0004c0009 a0010c0030 a0010c0064 a0028c0043 a0030c0059 a0032c0057	a0001c0004t0006 a0001c0015t0001 a0002c0007t0001 others(8): Show a0001c0004t0006 a0001c0015t0001 a0002c0007t0001 a0003c0011t0001 a0004c0009t0001 a0004c0009t0005 a0010c0030t0001 a0010c0064t0011 a0028c0043t0001 a0030c0059t0001 a0032c0057t0003	a0001c0004t0006g0109 a0001c0015t0001g0169 a0002c0007t0001g0107 others(11): Show a0001c0004t0006g0109 a0001c0015t0001g0169 a0002c0007t0001g0107 a0002c0007t0001g0172 a0002c0007t0001g0177 a0002c0007t0001g0178 a0003c0011t0001g0068 a0004c0009t0001g0014 a0004c0009t0005g0222 a0010c0030t0001g0114 a0010c0064t0011g0062 a0028c0043t0001g0201 a0030c0059t0001g0039 a0032c0057t0003g0060	14	230	0.0609	27	c.958 others(46): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAAAAA A	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01257.hp1 HG01069.hp1 HG01257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0101 a0002c0002t0002g0074 a0001c0001t0002g0101 a0002c0002t0002g0074	2	478	0.0042	27	c.629 others(44): Show c.629+1387_629+1413dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	370	0.0027	27	c.182 others(46): Show c.1826+3251_1826+3252insAAAAAAAAAAAAAAAAAAAAAAAAAA A	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL12A1_chr6_75079326_75211053	75208158	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0064 a0001c0037t0001g0064	1	206	0.0049	27	c.-24 others(38): Show c.-2418_-2417insAGAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2106		chr6	TogoVar
COL15A1_chr9_98938907_99075787	99024268	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0170 a0002c0010t0001g0170	1	310	0.0032	27	c.185 others(44): Show c.1855-598_1855-597insTTTTTTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	14/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	310	0.0032	27	c.365 others(44): Show c.3652-258_3652-257insTTTTTTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(20): Show TTTTCTTTTCTTTTCTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02602.hp2 NA18975.hp1 HG00280.hp2 HG02602.hp2 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0137 a0002c0002t0002g0006 a0002c0002t0002g0048 a0001c0001t0001g0137 a0002c0002t0002g0006 a0002c0002t0002g0048	3	342	0.0088	27	c.-35 others(38): Show c.-3584_-3583insGAAAGAAAGAAAAGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45405340	G G	GGGGTCGC others(20): Show GGGGTCGCGGGGGTCGCGGGGCTCGGCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18964.hp1 NA18964.hp2 others(4): Show HG04184.hp1 NA18964.hp1 NA18964.hp2 NA18998.hp1 NA18999.hp1 NA19007.hp1 NA19060.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0009	a0001c0001 a0001c0002 a0003c0015 others(3): Show a0001c0001 a0001c0002 a0003c0015 a0007c0034 a0007c0076 a0009c0016	a0001c0001t0001 a0001c0002t0002 a0003c0015t0001 others(3): Show a0001c0001t0001 a0001c0002t0002 a0003c0015t0001 a0007c0034t0001 a0007c0076t0002 a0009c0016t0002	a0001c0001t0001g0187 a0001c0002t0002g0188 a0003c0015t0001g0189 others(4): Show a0001c0001t0001g0187 a0001c0002t0002g0188 a0003c0015t0001g0189 a0003c0015t0001g0202 a0007c0034t0001g0282 a0007c0076t0002g0281 a0009c0016t0002g0252	7	292	0.0240	27	c.12- others(38): Show c.12-34_12-33insGCGGGGGTCGCGGGGCTCGGCCGGGTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45483998	A A	ACACACCT others(20): Show ACACACCTCTCCAGCATATGTACACATG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0003 a0006c0026t0003	a0006c0026t0003g0219 a0006c0026t0003g0219	1	292	0.0034	27	c.170 others(46): Show c.1701+1182_1701+1183insCTCTCCAGCATATGTACACATGCACA C	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921395	C C	CATATATA others(20): Show CATATATATCATATATCATATATATCAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0071 a0002c0003t0020g0071	1	182	0.0055	27	c.267 others(44): Show c.267-6508_267-6507insATCATATATCATATATATCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL22A1_chr8_138583235_138919041	138663036	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0155 a0001c0010t0007g0155	1	158	0.0063	27	c.318 others(44): Show c.3186+668_3186+669insGTGTGTGTGTGTGTGTGTGTGTGTGTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	42/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178547871	C C	CCCCATAC others(20): Show CCCCATACACACCCACACCCCACACCCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0139 a0004c0006t0003g0139	1	236	0.0042	27	c.361 others(46): Show c.361+12784_361+12810dupTGGGTGTGGGGTGTGGGTGTGTATGG G	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGGGGGG others(20): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0157 a0002c0003t0003g0157	1	236	0.0042	27	c.295 others(44): Show c.295-1989_295-1988insCCCCCCCCCCCCCCCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp1 HG03927.hp2 others(1): Show HG02559.hp1 HG02818.hp1 HG03927.hp2 NA18906.hp2	a0003 a0013 a0003 a0013	a0003c0027 a0003c0056 a0013c0018 a0003c0027 a0003c0056 a0013c0018	a0003c0027t0008 a0003c0056t0001 a0013c0018t0004 a0003c0027t0008 a0003c0056t0001 a0013c0018t0004	a0003c0027t0008g0064 a0003c0056t0001g0089 a0013c0018t0004g0062 others(1): Show a0003c0027t0008g0064 a0003c0056t0001g0089 a0013c0018t0004g0062 a0013c0018t0004g0063	4	238	0.0168	27	c.277 others(44): Show c.2778+929_2778+930insAAAAAAAAAAAAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL26A1_chr7_101357875_101564024	101510027	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	174	0.0058	27	c.386 others(46): Show c.386-23041_386-23040insTTTTTTTTTTTTTTTTTTTTTTTTTT T	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0316 a0006c0010t0001g0316	1	376	0.0027	27	c.-15 others(38): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAAAAAAAAAAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar

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Search Results (Total: 7463 hits)