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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CLDN8_chr21_30209006_30221097	30210363	T T	TATATATA others(36): Show TATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0000 a0002c0002t0008g0000	2	466	0.0043	43	c.48 others(54): Show c.4884_*4885insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3642		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210418	T T	TATATATA others(36): Show TATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA19043.hp2 HG02922.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0008 a0001c0001t0002 a0002c0002t0008	a0001c0001t0002g0000 a0002c0002t0008g0000 a0001c0001t0002g0000 a0002c0002t0008g0000	2	466	0.0043	43	c.48 others(54): Show c.4829_*4830insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3587		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210575	T T	TATATATA others(36): Show TATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	43	c.46 others(54): Show c.4672_*4673insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3430		chr21	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAATAT others(36): Show AAAAATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	43	c.-80 others(52): Show c.-805_-804insATATATATATATATATATATATATATATATATATAT ATATTTT		CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding					797		chr19	TogoVar
CLIP1_chr12_122266469_122427669	122390172	G G	GATATATA others(36): Show GATATATATATATATATATATATATATATATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	234	0.0043	43	c.-10 others(62): Show c.-106-9615_-106-9614insATATATATTATATATATATATATATA TATATATATATATATAT		CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25						chr12	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(36): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	320	0.0031	43	c.602 others(60): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAGAAAGAAAGA AAGAAAGAAAGGAAG		CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18						chr4	TogoVar
CLUH_chr17_2684387_2716764	2691956	G G	GCCCCCGC others(36): Show GCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	420	0.0024	43	c.365 others(58): Show c.3654+47_3654+48insGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG GCGGGGGCGGGGG		CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25						chr17	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAAGAG others(36): Show AGAAAGAGAGAGAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	414	0.0024	43	c.424 others(56): Show c.424-67_424-66insGAAAGAGAGAGAAAGAAGAAAGAGAAAGAAAG AAAAGAAAAAG		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9						chr18	TogoVar
CMC2_chr16_80961448_81011885	80965246	T T	TATATATA others(36): Show TATATATATATATACATATATATTTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0160 a0002c0002t0160	a0002c0002t0160g0103 a0002c0002t0160g0103	1	408	0.0025	43	c.10 others(56): Show c.10846_*10847insTATATATATATATATATATAAATATATATGTA TATATATATAT		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1201		chr16	TogoVar
CNMD_chr13_52698264_52744820	52740813	T T	TTTTGCAA others(36): Show TTTTGCAATAAAAAAAAAAAAAAAAAATACAAAAAAAATAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	330	0.0030	43	c.-11 others(54): Show c.-1113_-1112insTTTTTATTTTTTTTGTATTTTTTTTTTTTTTTTT TATTGCAAA		CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding					994		chr13	TogoVar
CNMD_chr13_52698264_52744820	52742552	G G	GAGACCAG others(36): Show GAGACCAGTAGAAAGAAGATGCTTAACTGTGAACCTTCTGAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	330	0.0030	43	c.-28 others(54): Show c.-2852_-2851insATTTCAGAAGGTTCACAGTTAAGCATCTTCTTTC TACTGGTCT		CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding					2733		chr13	TogoVar
CNOT1_chr16_58514951_58634826	58601734	T T	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0138 a0001c0008t0005g0138	1	308	0.0033	43	c.-17 others(62): Show c.-174-2224_-174-2223insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	1/48						chr16	TogoVar
CNOT3_chr19_54132762_54160681	54134108	C C	CCCCTCTC others(36): Show CCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0045 a0005c0007t0001g0045	1	223	0.0045	43	c.-39 others(54): Show c.-3936_-3935insCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCT		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3653		chr19	TogoVar
CNST_chr1_246561456_246673595	246604681	T T	TATTTTGA others(36): Show TATTTTGAGTTGCACTCTTGCTGTATTGCTCATGCTGGAGTGCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp1 HG02622.hp1 HG03486.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0011 a0002c0002 a0007c0011	a0002c0002t0015 a0007c0011t0015 a0002c0002t0015 a0007c0011t0015	a0002c0002t0015g0168 a0007c0011t0015g0213 a0002c0002t0015g0168 a0007c0011t0015g0213	2	320	0.0063	43	c.379 others(62): Show c.379+12743_379+12785dupTTTGAGTTGCACTCTTGCTGTATTGC TCATGCTGGAGTGCAAT		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTN1_chr12_40687439_41077415	40813038	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0072 a0001c0003t0005g0072	1	230	0.0044	43	c.-76 others(62): Show c.-76-95319_-76-95318insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT		CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23						chr12	TogoVar
CNTN4_chr3_2093866_3062959	2520259	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0085 a0001c0005t0010g0085	1	116	0.0086	43	c.-88 others(62): Show c.-88-51126_-88-51125insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99201351	T T	TTCCTTCC others(36): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	66	0.0152	43	c.-20 others(66): Show c.-209-123994_-209-123993insCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCT		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTNAP2_chr7_146111801_148425998	146721889	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0002 a0001c0002t0010g0002	1	40	0.0250	43	c.98- others(60): Show c.98-52381_98-52380insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147586523	G G	GAAGAGGG others(36): Show GAAGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03239.hp2 HG00735.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0002 a0001c0019t0006 a0001c0002t0002 a0001c0019t0006	a0001c0002t0002g0040 a0001c0019t0006g0015 a0001c0002t0002g0040 a0001c0019t0006g0015	2	40	0.0500	43	c.189 others(64): Show c.1897+24267_1897+24268insAGAGGGAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	274	0.0037	43	c.133 others(62): Show c.1334-1182_1334-1181insAAAAAAAAAAAAATATATATATATAT ATATATATATATATATA		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(36): Show AAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	274	0.0037	43	c.133 others(62): Show c.1334-1182_1334-1181insAAAAAAAAATATATATATATATATAT ATATATATATATATATA		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470497	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0015 a0015	a0015c0034 a0015c0034	a0015c0034t0006 a0015c0034t0006	a0015c0034t0006g0209 a0015c0034t0006g0209	1	274	0.0037	43	c.165 others(62): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATATATATATATATAT		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23						chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(36): Show CTTTTTCTTTTTCTCTTTTTTTTCTTTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02723.hp1 others(3): Show HG02257.hp1 HG02717.hp1 HG02723.hp1 HG03098.hp2 HG03471.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0012 a0003c0007t0001	a0001c0001t0006g0025 a0001c0002t0001g0007 a0001c0002t0003g0056 others(3): Show a0001c0001t0006g0025 a0001c0002t0001g0007 a0001c0002t0003g0056 a0001c0002t0010g0032 a0001c0002t0012g0018 a0003c0007t0001g0017	6	64	0.0938	43	c.175 others(62): Show c.1756+8209_1756+8210insCTTTTTCTCTTTTTTTTCTTTTTTCT TTTTTTTTTTTTTTTTT		CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
COG8_chr16_69321428_69344564	69339282	T T	TGAAGGGG others(36): Show TGAAGGGGGTCGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA18998.hp2 NA18998.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0004 a0008c0013t0004	a0008c0013t0004g0151 a0008c0013t0004g0151	1	360	0.0028	43	c.270 others(50): Show c.270_271insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCGACCC CCTTC	p.Ile others(4): Show p.Ile91fs	COG8	ENSG00000213380.16	transcript	ENST00000306875.10	protein_coding	1/6	282/4629	270/1839	90/612			chr16	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(36): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0046 a0014c0024t0001g0046	1	342	0.0029	43	c.-35 others(54): Show c.-3584_-3583insGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAA		COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding					3369		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45501652	C C	CCTCCACA others(36): Show CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0002 a0002c0021t0002	a0002c0021t0002g0001 a0002c0021t0002g0001	1	292	0.0034	43	c.268 others(62): Show c.2684-2253_2684-2211dupCCTCTGCAGAAGGACCCCCAGGGGCT CCACAGCCGGTCACCTC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501652	C C	CCTCCACA others(36): Show CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	292	0.0034	43	c.268 others(62): Show c.2684-2323_2684-2322insTCAGGAGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501652	C C	CCTCCACA others(36): Show CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02809.hp1 HG02886.hp1 HG01496.hp1 HG02809.hp1 HG02886.hp1	a0031 a0036 a0037 a0031 a0036 a0037	a0031c0092 a0036c0048 a0037c0049 a0031c0092 a0036c0048 a0037c0049	a0031c0092t0011 a0036c0048t0004 a0037c0049t0004 a0031c0092t0011 a0036c0048t0004 a0037c0049t0004	a0031c0092t0011g0190 a0036c0048t0004g0184 a0037c0049t0004g0183 a0031c0092t0011g0190 a0036c0048t0004g0184 a0037c0049t0004g0183	3	292	0.0103	43	c.268 others(62): Show c.2684-2323_2684-2322insTCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501652	C C	CCTCCGCA others(36): Show CCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04184.hp1 HG03654.hp1 HG04184.hp1	a0009 a0025 a0009 a0025	a0009c0016 a0025c0050 a0009c0016 a0025c0050	a0009c0016t0002 a0025c0050t0002 a0009c0016t0002 a0025c0050t0002	a0009c0016t0002g0252 a0025c0050t0002g0108 a0009c0016t0002g0252 a0025c0050t0002g0108	2	292	0.0069	43	c.268 others(62): Show c.2684-2355_2684-2354insGCAGCCGGTCACCTCCCTCTGCAGAA GGACCCTCAGGGGCTCC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501672	C C	CCTCTGCA others(36): Show CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0018	1	292	0.0034	43	c.268 others(62): Show c.2684-2297_2684-2296insTCTCTGCAGAAGGACCCCCAGGGGCT CCACAGCCGGTCACCTC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501677	G G	GCAGAAGG others(36): Show GCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02280.hp2 HG02922.hp1	a0002 a0004 a0002 a0004	a0002c0067 a0004c0099 a0002c0067 a0004c0099	a0002c0067t0001 a0004c0099t0003 a0002c0067t0001 a0004c0099t0003	a0002c0067t0001g0041 a0004c0099t0003g0030 a0002c0067t0001g0041 a0004c0099t0003g0030	2	292	0.0069	43	c.268 others(62): Show c.2684-2323_2684-2322insTCAGGGGCTCCACAGCCGGTCACCTC CCTCTACAGAAGGACCC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501689	C C	CCAGGGGC others(36): Show CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03453.hp1 HG03579.hp1 others(2): Show HG01192.hp2 HG03453.hp1 HG03579.hp1 HG03927.hp2 NA18954.hp2	a0001 a0008 a0029 a0001 a0008 a0029	a0001c0005 a0001c0013 a0008c0018 others(2): Show a0001c0005 a0001c0013 a0008c0018 a0008c0101 a0029c0071	a0001c0005t0007 a0001c0013t0002 a0008c0018t0005 others(2): Show a0001c0005t0007 a0001c0013t0002 a0008c0018t0005 a0008c0101t0005 a0029c0071t0002	a0001c0005t0007g0262 a0001c0013t0002g0122 a0008c0018t0005g0132 others(2): Show a0001c0005t0007g0262 a0001c0013t0002g0122 a0008c0018t0005g0132 a0008c0101t0005g0027 a0029c0071t0002g0134	5	292	0.0171	43	c.268 others(62): Show c.2684-2280_2684-2279insTCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501701	C C	CAGCCGGT others(36): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG04184.hp2 NA18999.hp2 others(2): Show HG01258.hp2 HG04184.hp2 NA18999.hp2 NA19010.hp2 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0003c0010	a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0003c0010t0006	a0001c0002t0002g0236 a0001c0003t0001g0110 a0001c0004t0001g0022 others(2): Show a0001c0002t0002g0236 a0001c0003t0001g0110 a0001c0004t0001g0022 a0001c0004t0001g0032 a0003c0010t0006g0014	5	292	0.0171	43	c.268 others(62): Show c.2684-2271_2684-2270insTCAAAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCT		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501744	C C	CAGCCGGT others(36): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp1 HG02965.hp2 others(1): Show HG01167.hp2 HG02647.hp1 HG02965.hp2 HG03654.hp1	a0001 a0025 a0001 a0025	a0001c0011 a0025c0050 a0001c0011 a0025c0050	a0001c0011t0001 a0025c0050t0002 a0001c0011t0001 a0025c0050t0002	a0001c0011t0001g0009 a0001c0011t0001g0017 a0001c0011t0001g0050 others(1): Show a0001c0011t0001g0009 a0001c0011t0001g0017 a0001c0011t0001g0050 a0025c0050t0002g0108	4	292	0.0137	43	c.268 others(62): Show c.2684-2228_2684-2227insTCAAAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCT		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501775	C C	CCAGGGGC others(36): Show CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19012.hp1 HG03704.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0055 a0001c0001 a0001c0055	a0001c0001t0004 a0001c0055t0003 a0001c0001t0004 a0001c0055t0003	a0001c0001t0004g0223 a0001c0055t0003g0152 a0001c0001t0004g0223 a0001c0055t0003g0152	2	292	0.0069	43	c.268 others(62): Show c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCT CCACAGCCGGTCACCTC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501787	C C	CAGCCGGT others(36): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02922.hp1 HG03942.hp1 others(2): Show HG01496.hp1 HG02922.hp1 HG03942.hp1 NA18954.hp2 NA21309.hp2	a0001 a0004 a0012 others(2): Show a0001 a0004 a0012 a0028 a0031	a0001c0005 a0004c0099 a0012c0065 others(2): Show a0001c0005 a0004c0099 a0012c0065 a0028c0097 a0031c0092	a0001c0005t0007 a0004c0099t0003 a0012c0065t0002 others(2): Show a0001c0005t0007 a0004c0099t0003 a0012c0065t0002 a0028c0097t0001 a0031c0092t0011	a0001c0005t0007g0262 a0004c0099t0003g0030 a0012c0065t0002g0096 others(2): Show a0001c0005t0007g0262 a0004c0099t0003g0030 a0012c0065t0002g0096 a0028c0097t0001g0036 a0031c0092t0011g0190	5	292	0.0171	43	c.268 others(62): Show c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCCCAGGGGCT TCAAAGCCGGTCACCTC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501861	C C	CCAGGGGC others(36): Show CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0002 a0002c0021t0002	a0002c0021t0002g0186 a0002c0021t0002g0186	1	292	0.0034	43	c.268 others(62): Show c.2684-2142_2684-2141insCCACAGCCGGTCACCTCCCTCTGCAG AAGGACCCTCAGGGGCT		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502024	A A	AGAAGGAC others(36): Show AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp1 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0074 a0001c0079 a0001c0074 a0001c0079	a0001c0074t0004 a0001c0079t0001 a0001c0074t0004 a0001c0079t0001	a0001c0074t0004g0200 a0001c0079t0001g0042 a0001c0074t0004g0200 a0001c0079t0001g0042	2	292	0.0069	43	c.268 others(62): Show c.2684-1978_2684-1977insCCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCCGAAGGACCC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502047	C C	CAGCCGGT others(36): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0031 a0031	a0031c0092 a0031c0092	a0031c0092t0011 a0031c0092t0011	a0031c0092t0011g0190 a0031c0092t0011g0190	1	292	0.0034	43	c.268 others(62): Show c.2684-1944_2684-1943insAGAAGGACCCCCAGGGGCTTCAAAGC CGGTCACCTCCCTCTGC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921356	A A	AATCATAT others(36): Show AATCATATATCATATATATCATATATATCATATATATCATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0175 a0002c0003t0002g0175	1	182	0.0055	43	c.267 others(60): Show c.267-6544_267-6543insCATATATATCATATATATCATATATATC ATATATATCATATAT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL22A1_chr8_138583235_138919041	138676413	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0009 a0001c0002t0003g0009	1	158	0.0063	43	c.315 others(60): Show c.3150+144_3150+145insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT		COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64						chr8	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAG others(36): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0002 a0014c0020t0002	a0014c0020t0002g0171 a0014c0020t0002g0171	1	238	0.0042	43	c.395 others(64): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTTT		COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59						chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255543	A A	AAGGAAGG others(36): Show AAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGCGGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19079.hp1 HG02922.hp2 NA19079.hp1	a0002 a0003 a0002 a0003	a0002c0109 a0003c0014 a0002c0109 a0003c0014	a0002c0109t0002 a0003c0014t0001 a0002c0109t0002 a0003c0014t0001	a0002c0109t0002g0267 a0003c0014t0001g0212 a0002c0109t0002g0267 a0003c0014t0001g0212	2	344	0.0058	43	c.85- others(60): Show c.85-12810_85-12809insGCCTGCCTGCCCGCTCCCTTCCTGCCTG CCCCCTTCCCTTCCT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL4A2_chr13_110302284_110518209	110457135	T T	TCCGTGGG others(36): Show TCCGTGGGGCTGATGCCCTGCGTCTGCGTGGGACCCCAGGCGTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0182 a0001c0005t0001g0182	1	372	0.0027	43	c.134 others(60): Show c.1340-207_1340-206insCGTGGGGCTGATGCCCTGCGTCTGCGTG GGACCCCAGGCGTCC		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	20/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110497505	A A	ATCCACCA others(36): Show ATCCACCAGCACAACCTCCACTCAGGACTGAGGATCTAGGTCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(166): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18991.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0011 a0014 a0016 a0021 a0025	a0001c0001 a0001c0002 a0001c0003 others(58): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0022 a0001c0024 a0001c0028 a0001c0037 a0001c0047 a0001c0051 a0001c0075 a0001c0077 a0001c0098 a0001c0114 a0002c0006 a0002c0013 a0002c0017 a0002c0038 a0002c0041 a0002c0054 a0002c0056 a0002c0064 a0002c0065 a0002c0087 a0002c0090 a0002c0107 a0002c0110 a0002c0121 a0003c0007 a0003c0010 a0003c0018 a0003c0026 a0003c0040 a0003c0044 a0003c0067 a0003c0068 a0003c0071 a0003c0095 a0003c0116 a0003c0118 a0004c0009 a0004c0012 a0004c0030 a0004c0081 a0004c0084 a0004c0089 a0005c0021 a0005c0043 a0007c0060 a0008c0023 a0010c0036 a0011c0032 a0014c0108 a0016c0048 a0021c0053 a0025c0103	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(112): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0042 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0003t0049 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0040 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0009 a0001c0008t0001 a0001c0011t0003 a0001c0011t0008 a0001c0011t0022 a0001c0014t0001 a0001c0014t0004 a0001c0014t0009 a0001c0014t0026 a0001c0015t0001 a0001c0015t0002 a0001c0015t0003 a0001c0022t0014 a0001c0022t0018 a0001c0024t0002 a0001c0024t0003 a0001c0028t0002 a0001c0037t0005 a0001c0047t0002 a0001c0051t0004 a0001c0075t0001 a0001c0077t0005 a0001c0098t0005 a0001c0114t0010 a0002c0006t0004 a0002c0006t0005 a0002c0006t0006 a0002c0013t0005 a0002c0013t0006 a0002c0013t0043 a0002c0017t0002 a0002c0017t0003 a0002c0038t0002 a0002c0041t0002 a0002c0041t0018 a0002c0054t0045 a0002c0056t0004 a0002c0064t0009 a0002c0065t0014 a0002c0087t0001 a0002c0090t0008 a0002c0107t0033 a0002c0110t0008 a0002c0121t0016 a0003c0007t0004 a0003c0007t0005 a0003c0007t0008 a0003c0007t0035 a0003c0010t0004 a0003c0010t0005 a0003c0010t0006 a0003c0010t0008 a0003c0018t0004 a0003c0018t0005 a0003c0018t0006 a0003c0026t0001 a0003c0040t0002 a0003c0044t0004 a0003c0067t0050 a0003c0068t0024 a0003c0071t0001 a0003c0095t0003 a0003c0116t0022 a0003c0118t0036 a0004c0009t0002 a0004c0009t0003 a0004c0012t0004 a0004c0012t0008 a0004c0030t0001 a0004c0081t0001 a0004c0084t0005 a0004c0089t0005 a0005c0021t0041 a0005c0043t0001 a0007c0060t0015 a0008c0023t0001 a0008c0023t0002 a0008c0023t0009 a0010c0036t0021 a0011c0032t0002 a0011c0032t0003 a0014c0108t0002 a0016c0048t0005 a0021c0053t0007 a0025c0103t0004	a0001c0001t0001g0153 a0001c0001t0001g0195 a0001c0001t0002g0306 others(165): Show a0001c0001t0001g0153 a0001c0001t0001g0195 a0001c0001t0002g0306 a0001c0001t0003g0063 a0001c0001t0004g0280 a0001c0001t0004g0290 a0001c0001t0004g0350 a0001c0001t0005g0107 a0001c0001t0005g0115 a0001c0001t0005g0192 a0001c0001t0006g0047 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0006g0083 a0001c0001t0010g0033 a0001c0001t0010g0035 a0001c0001t0042g0022 a0001c0001t0046g0283 a0001c0002t0001g0152 a0001c0002t0002g0308 a0001c0002t0002g0318 a0001c0002t0002g0349 a0001c0002t0003g0127 a0001c0002t0004g0275 a0001c0002t0004g0292 a0001c0002t0005g0100 a0001c0002t0005g0158 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0006g0046 a0001c0002t0008g0012 a0001c0002t0029g0204 a0001c0003t0001g0165 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0002g0267 a0001c0003t0002g0293 a0001c0003t0002g0333 a0001c0003t0002g0340 a0001c0003t0002g0353 a0001c0003t0003g0056 a0001c0003t0003g0061 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0017g0178 a0001c0003t0017g0245 a0001c0003t0049g0274 a0001c0004t0003g0048 a0001c0004t0004g0287 a0001c0004t0004g0291 a0001c0004t0004g0331 a0001c0004t0005g0104 a0001c0004t0005g0163 a0001c0004t0005g0229 a0001c0004t0006g0053 a0001c0004t0040g0050 a0001c0005t0001g0102 a0001c0005t0001g0182 a0001c0005t0001g0249 a0001c0005t0002g0322 a0001c0005t0002g0332 a0001c0005t0002g0337 a0001c0005t0003g0052 a0001c0005t0003g0071 a0001c0005t0009g0013 a0001c0008t0001g0108 a0001c0011t0003g0125 a0001c0011t0008g0176 a0001c0011t0022g0358 a0001c0014t0001g0146 a0001c0014t0004g0324 a0001c0014t0009g0004 a0001c0014t0026g0156 a0001c0015t0001g0198 a0001c0015t0002g0343 a0001c0015t0003g0086 a0001c0015t0003g0093 a0001c0022t0014g0037 a0001c0022t0018g0173 a0001c0024t0002g0345 a0001c0024t0003g0087 a0001c0028t0002g0304 a0001c0037t0005g0185 a0001c0047t0002g0310 a0001c0051t0004g0315 a0001c0075t0001g0106 a0001c0077t0005g0236 a0001c0098t0005g0237 a0001c0114t0010g0030 a0002c0006t0004g0272 a0002c0006t0005g0157 a0002c0006t0006g0066 a0002c0006t0006g0070 a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0013t0005g0036 a0002c0013t0005g0188 a0002c0013t0006g0118 a0002c0013t0043g0016 a0002c0017t0002g0295 a0002c0017t0002g0370 a0002c0017t0003g0126 a0002c0038t0002g0360 a0002c0041t0002g0369 a0002c0041t0018g0003 a0002c0054t0045g0233 a0002c0056t0004g0266 a0002c0064t0009g0170 a0002c0065t0014g0028 a0002c0087t0001g0256 a0002c0090t0008g0041 a0002c0107t0033g0174 a0002c0110t0008g0014 a0002c0121t0016g0238 a0003c0007t0004g0347 a0003c0007t0005g0169 a0003c0007t0005g0221 a0003c0007t0005g0259 a0003c0007t0008g0038 a0003c0007t0008g0186 a0003c0007t0035g0025 a0003c0010t0004g0002 a0003c0010t0004g0268 a0003c0010t0004g0351 a0003c0010t0005g0218 a0003c0010t0006g0134 a0003c0010t0008g0010 a0003c0018t0004g0309 a0003c0018t0005g0116 a0003c0018t0005g0117 a0003c0018t0006g0121 a0003c0018t0006g0145 a0003c0026t0001g0032 a0003c0026t0001g0034 a0003c0040t0002g0261 a0003c0044t0004g0326 a0003c0044t0004g0327 a0003c0067t0050g0151 a0003c0068t0024g0247 a0003c0071t0001g0209 a0003c0095t0003g0082 a0003c0116t0022g0367 a0003c0118t0036g0139 a0004c0009t0002g0325 a0004c0009t0003g0055 a0004c0009t0003g0122 a0004c0009t0003g0128 a0004c0012t0004g0299 a0004c0012t0004g0307 a0004c0012t0008g0009 a0004c0030t0001g0113 a0004c0081t0001g0246 a0004c0084t0005g0253 a0004c0089t0005g0187 a0005c0021t0041g0072 a0005c0043t0001g0137 a0007c0060t0015g0264 a0008c0023t0001g0262 a0008c0023t0002g0312 a0008c0023t0009g0015 a0010c0036t0021g0319 a0010c0036t0021g0320 a0011c0032t0002g0302 a0011c0032t0003g0123 a0014c0108t0002g0323 a0016c0048t0005g0206 a0021c0053t0007g0241 a0025c0103t0004g0301	169	372	0.4543	43	c.376 others(62): Show c.3760+2072_3760+2073insCTAGGTCAGTCCACCAGCACAACCTC CACTCAGGACTGAGGAT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	40/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	344	0.0029	43	c.546 others(58): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATATATT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134679447	T T	TGGGGGCA others(36): Show TGGGGGCACTGTGGGGCTGGTTGGGGGCACTGCGGGGCTTCTTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp2 HG02280.hp1 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0031 a0001c0006 a0001c0031	a0001c0006t0048 a0001c0031t0006 a0001c0006t0048 a0001c0031t0006	a0001c0006t0048g0047 a0001c0031t0006g0048 a0001c0006t0048g0047 a0001c0031t0006g0048	2	272	0.0074	43	c.110 others(62): Show c.110-11455_110-11454insTGGGGCTGGTTGGGGGCACTGCGGGG CTTCTTAGGGGGCACTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45977311	C C	CTCCCACC others(36): Show CTCCCACCCTCTCCCCCTCCCCCCTCTTCCCACCCCCTCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(114): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18983.hp1 NA18983.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0007 others(32): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0024 a0001c0035 a0002c0002 a0002c0008 a0003c0004 a0003c0028 a0004c0005 a0004c0030 a0005c0006 a0005c0023 a0005c0034 a0006c0011 a0007c0036 a0008c0015 a0009c0014 a0011c0019 a0012c0033 a0013c0020 a0014c0025 a0015c0027 a0016c0026 a0017c0029 a0018c0031 a0019c0032 a0020c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0015 a0001c0007t0001 a0001c0009t0002 a0001c0010t0005 a0001c0012t0005 a0001c0017t0003 a0001c0018t0001 a0001c0021t0002 a0001c0022t0007 a0001c0024t0003 a0001c0035t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0008t0001 a0002c0008t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0012 a0003c0028t0001 a0004c0005t0001 a0004c0030t0001 a0005c0006t0001 a0005c0023t0001 a0005c0034t0001 a0006c0011t0002 a0007c0036t0005 a0008c0015t0002 a0009c0014t0002 a0011c0019t0003 a0012c0033t0002 a0013c0020t0002 a0014c0025t0001 a0015c0027t0005 a0016c0026t0002 a0017c0029t0003 a0018c0031t0013 a0019c0032t0002 a0020c0013t0004	a0001c0001t0001g0065 a0001c0001t0002g0003 a0001c0001t0002g0004 others(113): Show a0001c0001t0001g0065 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0016g0100 a0001c0003t0001g0115 a0001c0003t0002g0017 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0026 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0006g0005 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0006g0059 a0001c0003t0015g0105 a0001c0007t0001g0001 a0001c0007t0001g0063 a0001c0009t0002g0048 a0001c0009t0002g0086 a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 a0001c0012t0005g0074 a0001c0017t0003g0016 a0001c0018t0001g0049 a0001c0021t0002g0093 a0001c0022t0007g0046 a0001c0024t0003g0030 a0001c0035t0002g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0078 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0008g0051 a0002c0002t0008g0117 a0002c0002t0008g0118 a0002c0002t0009g0038 a0002c0002t0009g0084 a0002c0002t0009g0122 a0002c0002t0010g0039 a0002c0002t0010g0123 a0002c0008t0001g0112 a0002c0008t0004g0032 a0003c0004t0001g0061 a0003c0004t0001g0062 a0003c0004t0001g0066 a0003c0004t0001g0070 a0003c0004t0001g0095 a0003c0004t0002g0091 a0003c0004t0002g0099 a0003c0004t0012g0064 a0003c0028t0001g0053 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0004c0005t0001g0058 a0004c0030t0001g0085 a0005c0006t0001g0067 a0005c0006t0001g0069 a0005c0006t0001g0071 a0005c0023t0001g0060 a0005c0034t0001g0068 a0006c0011t0002g0110 a0007c0036t0005g0083 a0008c0015t0002g0089 a0009c0014t0002g0087 a0011c0019t0003g0114 a0012c0033t0002g0080 a0013c0020t0002g0002 a0014c0025t0001g0042 a0015c0027t0005g0076 a0016c0026t0002g0116 a0017c0029t0003g0022 a0018c0031t0013g0029 a0019c0032t0002g0008 a0020c0013t0004g0018	117	128	0.9141	43	c.-45 others(54): Show c.-4540_-4539insTCCCACCCTCTCCCCCTCCCCCCTCTTCCCACCC CCTCCCCTG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					4458		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45977321	C C	CTCCCCCT others(36): Show CTCCCCCTCCCCCCTCTTCCCACCCCCTCCCCTGTCCCACCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0097 a0006c0011t0002g0097	1	128	0.0078	43	c.-45 others(54): Show c.-4530_-4529insTCCCCCTCCCCCCTCTTCCCACCCCCTCCCCTGT CCCACCTCA		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					4448		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981618	T T	TCCCGCCC others(36): Show TCCCGCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0093 a0001c0021t0002g0093	1	128	0.0078	43	c.-23 others(52): Show c.-233_-232insCCCGCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCGC		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					151		chr21	TogoVar

Search by Variant

Search

Search Results (Total: 2299 hits)