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
CNTN5_chr11_99015949_100363885	99727312	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0055 a0002c0002t0021g0055	1	66	0.0152	29	c.56- others(46): Show c.56-92210_56-92209insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090499	T T	TTTCCTCC others(22): Show TTTCCTCCCTCCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0013 a0006c0006t0013	a0006c0006t0013g0025 a0006c0006t0013g0025	1	66	0.0152	29	c.158 others(50): Show c.1580+16218_1580+16219insTCCCTCCCTCCCTCCCTTCCTCCC TCCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090505	C C	CCCTCCCT others(22): Show CCCTCCCTTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0019 a0003c0011t0019	a0003c0011t0019g0059 a0003c0011t0019g0059	1	66	0.0152	29	c.158 others(50): Show c.1580+16218_1580+16219insTCCCTCCCTCCCTCCCTCCCTTCC TCCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1175316	A A	ATTAAAAT others(22): Show ATTAAAATGTGAATAAATAACTAAAATGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0210 a0001c0006t0001g0210	1	232	0.0043	29	c.55+ others(46): Show c.55+27253_55+27254insTTAAAATGTGAATAAATAACTAAAATGT G	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22			chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146392309	T T	TGATGTAA others(22): Show TGATGTAATATCATTGAGAAGTATCAGAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG02630.hp1 HG02896.hp1	a0001 a0005 a0001 a0005	a0001c0012 a0005c0020 a0001c0012 a0005c0020	a0001c0012t0004 a0005c0020t0005 a0001c0012t0004 a0005c0020t0005	a0001c0012t0004g0026 a0005c0020t0005g0016 a0001c0012t0004g0026 a0005c0020t0005g0016	2	40	0.0500	29	c.97+ others(48): Show c.97+275338_97+275366dupATGTAATATCATTGAGAAGTATCAGA AAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146711819	A A	ATATATAG others(22): Show ATATATAGTATACACATCTTATGTATACAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0027 a0001c0009t0019g0027	1	40	0.0250	29	c.98- others(46): Show c.98-62452_98-62451insTATATAGTATACACATCTTATGTATACA T	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147083787	A A	ATATATAC others(22): Show ATATATACATATACACATGTATGTACATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20129.hp1 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0022 a0001c0006t0009 a0001c0005t0022 a0001c0006t0009	a0001c0005t0022g0032 a0001c0006t0009g0028 a0001c0005t0022g0032 a0001c0006t0009g0028	2	40	0.0500	29	c.551 others(48): Show c.551-24277_551-24249dupCATATTATATACATATACACATGTAT GTA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147176867	G G	GAATAATT others(22): Show GAATAATTATAATATATAATTATATATTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02886.hp2 others(3): Show HG01891.hp1 HG02451.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0004c0014	a0001c0001t0012 a0001c0002t0001 a0001c0003t0020 others(3): Show a0001c0001t0012 a0001c0002t0001 a0001c0003t0020 a0001c0005t0022 a0001c0010t0002 a0004c0014t0021	a0001c0001t0012g0034 a0001c0002t0001g0007 a0001c0003t0020g0017 others(3): Show a0001c0001t0012g0034 a0001c0002t0001g0007 a0001c0003t0020g0017 a0001c0005t0022g0032 a0001c0010t0002g0014 a0004c0014t0021g0022	6	40	0.1500	29	c.134 others(50): Show c.1348+44379_1348+44407dupATATATTATAATAATTATAATATA TAATT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147560168	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG01891.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0009 a0001c0002t0001g0007 a0001c0001t0006g0009 a0001c0002t0001g0007	2	40	0.0500	29	c.177 others(48): Show c.1778-1947_1778-1946insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0005 a0005c0020t0005	a0005c0020t0005g0016 a0005c0020t0005g0016	1	40	0.0250	29	c.225 others(50): Show c.2255+15741_2255+15742insCTTTCTTTTTTTTTTTTTTTTTTT TTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTCTTT others(22): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18522.hp1 HG02976.hp1 NA18522.hp1	a0001 a0001	a0001c0013 a0001c0015 a0001c0013 a0001c0015	a0001c0013t0003 a0001c0015t0001 a0001c0013t0003 a0001c0015t0001	a0001c0013t0003g0039 a0001c0015t0001g0011 a0001c0013t0003g0039 a0001c0015t0001g0011	2	40	0.0500	29	c.225 others(50): Show c.2255+15741_2255+15742insCTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0226 a0002c0002t0004g0226	1	274	0.0037	29	c.133 others(48): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAAAAAAAATATAT ATA	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(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0005 a0002c0011t0005	a0002c0011t0005g0144 a0002c0011t0005g0144	1	274	0.0037	29	c.133 others(48): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAAAATATATATAT ATA	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(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	274	0.0037	29	c.133 others(48): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAATATATATATAT ATA	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(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	274	0.0037	29	c.133 others(48): Show c.1334-1182_1334-1181insAAAAAAAAAAAAATATATATATATAT ATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124057448	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	64	0.0156	29	c.82+ others(46): Show c.82+31739_82+31740insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644738	A A	ATAGATAG others(22): Show ATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	384	0.0026	29	c.264 others(44): Show c.264+512_264+513insATCTATCTATCTATCTATCTATCTATCTA	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644799	C C	CAGAGAGA others(22): Show CAGAGAGAGAGAGAGACGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	384	0.0026	29	c.264 others(44): Show c.264+451_264+452insCTCTCTCTCTCTCGTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp2 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0149 a0001c0001t0001g0119 a0001c0001t0001g0149	2	384	0.0052	29	c.-38 others(48): Show c.-38-15452_-38-15451insCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43710375	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0375 a0001c0001t0001g0375	1	384	0.0026	29	c.-39 others(48): Show c.-39+19053_-39+19054insATATATATATATATATATATATATAT TTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COBLL1_chr2_164675188_164846823	164818669	A A	ATATGTAA others(22): Show ATATGTAAACATATATAGCGTATATGTACT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0130 a0002c0003t0024g0130	1	212	0.0047	29	c.41+ others(46): Show c.41+22486_41+22487insAGTACATATACGCTATATATGTTTACAT A	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01169.hp1 others(10): Show HG00140.hp2 HG00408.hp1 HG01169.hp1 HG01517.hp2 HG01884.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG03710.hp2 NA18971.hp1 NA18983.hp2 NA18988.hp2 NA19087.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0004 a0002c0007 a0003c0016 others(5): Show a0001c0004 a0002c0007 a0003c0016 a0004c0009 a0004c0063 a0005c0006 a0007c0018 a0008c0058	a0001c0004t0001 a0002c0007t0001 a0003c0016t0001 others(6): Show a0001c0004t0001 a0002c0007t0001 a0003c0016t0001 a0004c0009t0001 a0004c0009t0002 a0004c0063t0001 a0005c0006t0003 a0007c0018t0003 a0008c0058t0003	a0001c0004t0001g0183 a0002c0007t0001g0174 a0003c0016t0001g0076 others(10): Show a0001c0004t0001g0183 a0002c0007t0001g0174 a0003c0016t0001g0076 a0003c0016t0001g0077 a0004c0009t0001g0005 a0004c0009t0001g0017 a0004c0009t0002g0057 a0004c0009t0002g0074 a0004c0063t0001g0020 a0005c0006t0003g0035 a0005c0006t0003g0050 a0007c0018t0003g0144 a0008c0058t0003g0021	13	230	0.0565	29	c.958 others(48): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	478	0.0021	29	c.629 others(46): Show c.629+1413_629+1414insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COG3_chr13_45459939_45541701	45486338	A A	AGGGAGAG others(22): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG02895.hp1 others(6): Show HG00438.hp1 HG01106.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 NA18943.hp1 NA18949.hp2 NA18968.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0071 a0001c0001t0001g0072 others(6): Show a0001c0001t0001g0041 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0135 a0001c0001t0001g0149	9	342	0.0263	29	c.844 others(44): Show c.844-157_844-156insGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22			chr13	TogoVar
COL11A1_chr1_102871473_103113522	102976289	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0044 a0003c0011t0001g0044	1	184	0.0054	29	c.275 others(48): Show c.2755-1407_2755-1406insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	35/66			chr1	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	310	0.0032	29	c.365 others(46): Show c.3652-258_3652-257insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	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(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0298 a0002c0002t0007g0298	1	342	0.0029	29	c.-35 others(40): Show c.-3584_-3583insGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45483998	A A	ACACACAC others(22): Show ACACACACCTCTCCAGCATATGTACACATG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG01258.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0287 a0001c0003t0001g0110 a0001c0003t0001g0287	2	292	0.0069	29	c.170 others(48): Show c.1701+1185_1701+1213dupCTCTCCAGCATATGTACACATGCACA CAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45484027	G G	GCACACAC others(22): Show GCACACACACACCTCTCCAGCATATGTACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02258.hp1 others(11): Show HG01243.hp1 HG02145.hp2 HG02258.hp1 HG02559.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp2 HG06807.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0013 a0014 a0030	a0001c0001 a0001c0002 a0001c0027 others(8): Show a0001c0001 a0001c0002 a0001c0027 a0001c0054 a0001c0063 a0004c0099 a0004c0100 a0005c0060 a0013c0102 a0014c0039 a0030c0056	a0001c0001t0001 a0001c0002t0012 a0001c0027t0001 others(8): Show a0001c0001t0001 a0001c0002t0012 a0001c0027t0001 a0001c0054t0002 a0001c0063t0001 a0004c0099t0003 a0004c0100t0001 a0005c0060t0001 a0013c0102t0004 a0014c0039t0009 a0030c0056t0001	a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0002t0012g0109 others(11): Show a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0002t0012g0109 a0001c0027t0001g0019 a0001c0027t0001g0020 a0001c0054t0002g0201 a0001c0063t0001g0144 a0004c0099t0003g0030 a0004c0100t0001g0039 a0005c0060t0001g0063 a0013c0102t0004g0196 a0014c0039t0009g0197 a0014c0039t0009g0198 a0030c0056t0001g0044	14	292	0.0480	29	c.170 others(48): Show c.1701+1218_1701+1246dupCTCTCCAGCATATGTACACACACACA CAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45484032	C C	CACCTCTC others(22): Show CACCTCTCCAGCATATGTACACATGCACAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0051 a0013c0051	a0013c0051t0001 a0013c0051t0001	a0013c0051t0001g0195 a0013c0051t0001g0195	1	292	0.0034	29	c.170 others(48): Show c.1701+1213_1701+1214insCTCTCCAGCATATGTACACATGCACA TAC	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(22): Show CATATATATCATATATATCATATATATCAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0162 a0002c0006t0003g0162	1	182	0.0055	29	c.267 others(46): Show c.267-6508_267-6507insATCATATATATCATATATATCATATATA T	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL23A1_chr5_178232618_178595393	178585508	C C	CGCCCTAC others(22): Show CGCCCTACAGCCCTGGATGGCGCTGGGGTA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0221 a0002c0003t0004g0221	1	236	0.0042	29	c.294 others(46): Show c.294+4395_294+4396insTACCCCAGCGCCATCCAGGGCTGTAGGG C	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAA others(22): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	238	0.0042	29	c.395 others(50): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTCTTT TTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03139.hp2 HG03225.hp1 HG02809.hp2 HG03139.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0011 a0001c0005 a0002c0011	a0001c0005t0003 a0002c0011t0003 a0001c0005t0003 a0002c0011t0003	a0001c0005t0003g0207 a0002c0011t0003g0211 a0002c0011t0003g0212 a0001c0005t0003g0207 a0002c0011t0003g0211 a0002c0011t0003g0212	3	238	0.0126	29	c.277 others(46): Show c.2778+929_2778+930insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108835861	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02486.hp2 HG00140.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0040 a0001c0004t0002g0083 a0001c0004t0001g0040 a0001c0004t0002g0083	2	130	0.0154	29	c.165 others(48): Show c.1657-3429_1657-3428insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101463775	T T	TTCTTCTC others(22): Show TTCTTCTCTCTCTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0008 a0003c0020t0008	a0003c0020t0008g0066 a0003c0020t0008g0066	1	174	0.0058	29	c.385 others(48): Show c.385+15992_385+15993insCTCTCTCTCTTTCTTTCTTTCTCTCT CTT	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(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0325 a0002c0002t0001g0325	1	376	0.0027	29	c.-15 others(40): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110238918	T T	TCTGTGAA others(22): Show TCTGTGAAGCAAGCATTCAAAACCTAGCTA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	344	0.0029	29	c.144 others(46): Show c.144+3756_144+3757insTAGCTAGGTTTTGAATGCTTGCTTCACA G	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253122	T T	TGTATTAT others(22): Show TGTATTATATATACATGTAACTATATGTAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02071.hp2 HG02080.hp2 others(8): Show HG00621.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 NA18969.hp2 NA18972.hp2 NA19009.hp2 NA19012.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0001c0050 others(6): Show a0001c0001 a0001c0007 a0001c0050 a0002c0004 a0002c0018 a0002c0091 a0003c0041 a0004c0005 a0004c0070	a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 a0001c0050t0001 a0002c0004t0001 a0002c0018t0001 a0002c0091t0001 a0003c0041t0002 a0004c0005t0001 a0004c0070t0001	a0001c0001t0001g0039 a0001c0001t0005g0041 a0001c0007t0001g0034 others(8): Show a0001c0001t0001g0039 a0001c0001t0005g0041 a0001c0007t0001g0034 a0001c0007t0001g0145 a0001c0050t0001g0038 a0002c0004t0001g0214 a0002c0018t0001g0234 a0002c0091t0001g0237 a0003c0041t0002g0303 a0004c0005t0001g0033 a0004c0070t0001g0036	11	344	0.0320	29	c.85- others(46): Show c.85-10389_85-10388insGTACATATAGTTACATGTATATATAATA C	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253180	C C	CGTATTAT others(22): Show CGTATTATATATACATGTAACTATATGTAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	344	0.0029	29	c.85- others(46): Show c.85-10447_85-10446insATACATATAGTTACATGTATATATAATA C	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253184	T T	TGTATTAT others(22): Show TGTATTATATATACATGTAACTATATGTAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02129.hp1 others(1): Show HG01168.hp2 HG01169.hp2 HG02129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0075 a0002c0047 a0001c0001 a0001c0075 a0002c0047	a0001c0001t0001 a0001c0075t0003 a0002c0047t0002 a0001c0001t0001 a0001c0075t0003 a0002c0047t0002	a0001c0001t0001g0040 a0001c0075t0003g0079 a0002c0047t0002g0337 others(1): Show a0001c0001t0001g0040 a0001c0075t0003g0079 a0002c0047t0002g0337 a0002c0047t0002g0338	4	344	0.0116	29	c.85- others(46): Show c.85-10451_85-10450insGTACATATAGTTACATGTATATATAATA C	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355680	G G	GGAGGGCT others(22): Show GGAGGGCTGCACTAGCTCACCTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0307 a0004c0012t0004g0307	1	372	0.0027	29	c.100 others(46): Show c.100-1791_100-1790insAGGGCTGCACTAGCTCACCTGTGTGTGT G	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481698	T T	TGTTCTGT others(22): Show TGTTCTGTCCCTCCGTGCTGGAGACACACA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0090 a0002c0006t0006g0090	1	372	0.0027	29	c.275 others(46): Show c.2759-809_2759-808insCTCCGTGCTGGAGACACACAGTTCTGTC C	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481700	T T	TTCTGTCC others(22): Show TTCTGTCCCTCCGTGCTGGAGACACACTGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02015.hp2 HG02738.hp1 others(2): Show HG01074.hp1 HG02015.hp2 HG02738.hp1 HG03927.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0018	a0001c0011 a0003c0105 a0004c0012 others(1): Show a0001c0011 a0003c0105 a0004c0012 a0018c0049	a0001c0011t0004 a0003c0105t0011 a0004c0012t0001 others(1): Show a0001c0011t0004 a0003c0105t0011 a0004c0012t0001 a0018c0049t0031	a0001c0011t0004g0311 a0003c0105t0011g0168 a0004c0012t0001g0162 others(2): Show a0001c0011t0004g0311 a0003c0105t0011g0168 a0004c0012t0001g0162 a0004c0012t0001g0199 a0018c0049t0031g0045	5	372	0.0134	29	c.275 others(46): Show c.2759-809_2759-808insCTCCGTGCTGGAGACACACTGCTCTGTC C	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481728	T T	TGTTCTGT others(22): Show TGTTCTGTCCCTCCGTGCTGGAGACACACA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0024 a0002c0006t0002g0024	1	372	0.0027	29	c.275 others(46): Show c.2759-773_2759-772insGCTGGAGACACACAGTTCTGTCCCTCCG T	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481803	T T	TTGCTGGA others(22): Show TTGCTGGAGACACACTGTTCTGTCCCTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00544.hp2 others(26): Show HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG01069.hp1 HG01070.hp1 HG01099.hp1 HG01175.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02135.hp1 HG02155.hp2 HG02451.hp2 HG03453.hp1 HG03704.hp1 NA18612.hp2 NA18945.hp1 NA18961.hp2 NA18963.hp1 NA18970.hp2 NA19005.hp2 NA19007.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0119 a0002c0006 a0002c0013 a0002c0017 a0002c0050 a0002c0086 a0002c0092 a0003c0040 a0004c0009 a0004c0012 a0004c0084	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0029 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0008t0003 a0001c0011t0022 a0001c0119t0032 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0013t0002 a0002c0017t0002 a0002c0050t0002 a0002c0086t0002 a0002c0092t0001 a0003c0040t0002 a0004c0009t0001 a0004c0012t0003 a0004c0084t0005	a0001c0001t0001g0363 a0001c0001t0003g0091 a0001c0001t0006g0074 others(26): Show a0001c0001t0001g0363 a0001c0001t0003g0091 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0002t0001g0101 a0001c0002t0029g0204 a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0003g0059 a0001c0004t0003g0140 a0001c0005t0001g0102 a0001c0005t0002g0297 a0001c0008t0003g0081 a0001c0011t0022g0358 a0001c0119t0032g0005 a0002c0006t0001g0258 a0002c0006t0002g0024 a0002c0006t0003g0084 a0002c0013t0002g0265 a0002c0017t0002g0300 a0002c0017t0002g0316 a0002c0017t0002g0370 a0002c0050t0002g0317 a0002c0086t0002g0279 a0002c0092t0001g0230 a0003c0040t0002g0261 a0004c0009t0001g0111 a0004c0012t0003g0077 a0004c0084t0005g0253	29	372	0.0780	29	c.275 others(46): Show c.2759-697_2759-696insTTCTGTCCCTCTGTGCTGGAGACACACT G	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481937	C C	CTCTGTCC others(22): Show CTCTGTCCCTCCGTGCTGGAGACACACTGT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0293 a0001c0003t0002g0293	1	372	0.0027	29	c.275 others(46): Show c.2759-571_2759-543dupCTCCGTGCTGGAGACACACTGTTCTGTC C	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0171 a0003c0002t0003g0171	1	344	0.0029	29	c.546 others(44): Show c.546+711_546+712insATATATATATATATATATATATATATATT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA20805.hp2 HG01261.hp2 NA20805.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0002 a0011c0012t0001 a0001c0001t0002 a0011c0012t0001	a0001c0001t0002g0191 a0011c0012t0001g0321 a0001c0001t0002g0191 a0011c0012t0001g0321	2	344	0.0058	29	c.546 others(44): Show c.546+711_546+712insATATATATATATATATTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0096 a0006c0013t0001g0096	1	344	0.0029	29	c.546 others(44): Show c.546+711_546+712insATATATATATATATTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar

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