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
CD200_chr3_112328156_112367812	112342382	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	408	0.0025	-47	c.94+ others(62): Show c.94+1404_94+1450delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTCT		CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
CD38_chr4_15773328_15858232	15790127	CCCTCTCC others(40): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCTCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19083.hp1 HG03927.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0013 a0001c0001t0005g0014 a0001c0001t0002g0013 a0001c0001t0005g0014	2	344	0.0058	-47	c.233 others(66): Show c.233+11483_233+11529delTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCCCTCTCCCTCCCCCTCC		CD38	ENSG00000004468.13	transcript	ENST00000226279.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDC42_chr1_22047709_22106360	22054907	ATATATAT others(40): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0227 a0001c0001t0074g0227	1	352	0.0028	-47	c.-51 others(64): Show c.-51+2167_-51+2213delATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054909	ATATATAT others(40): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp2 NA18948.hp1 others(2): Show HG00438.hp2 HG02040.hp2 NA18948.hp1 NA18978.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0218 a0001c0001t0003g0011 a0001c0001t0005g0047 others(2): Show a0001c0001t0001g0218 a0001c0001t0003g0011 a0001c0001t0005g0047 a0001c0001t0016g0219 a0001c0001t0016g0293	5	352	0.0142	-47	c.-51 others(64): Show c.-51+2169_-51+2215delATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH11_chr16_64938753_65127063	64979575	TGTTGGTG others(40): Show TGTTGGTGAGAATGTGGAGAAACTGGAACTCTCATATATTGTTGATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0046 a0003c0018t0046	a0003c0018t0046g0254 a0003c0018t0046g0254	1	308	0.0033	-47	c.125 others(66): Show c.1253+2426_1253+2472delTTATCAACAATATATGAGAGTTCCAG TTTCTCCACATTCTCACCAAC		CDH11	ENSG00000140937.14	transcript	ENST00000268603.9	protein_coding	8/12						chr16	TogoVar
CDH20_chr18_61328430_61560779	61496056	CTCTCTCC others(40): Show CTCTCTCCTCCCTTCCTCTCCCCCCTCTCTCCTCCCTTCCTCTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01346.hp1 NA19064.hp2 others(2): Show HG01099.hp2 HG01346.hp1 NA19064.hp2 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0219 others(2): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0219 a0001c0001t0002g0272 a0001c0001t0003g0129	5	280	0.0179	-47	c.247 others(64): Show c.247-3106_247-3060delCTCTCTCCTCCCTTCCTCTCTCCTTCTC TCCTCCCTTCCTCTCCCCC		CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH23_chr10_71391920_71820947	71704002	CCTAGGAC others(40): Show CCTAGGACCTCAGGAGATACAGATTTCTGCTGGTTGTGGAGAAGAGCG	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0005 a0004c0025t0005	a0004c0025t0005g0123 a0004c0025t0005g0123	1	196	0.0051	-47	c.273 others(64): Show c.2734-908_2734-862delCTAGGACCTCAGGAGATACAGATTTCTG CTGGTTGTGGAGAAGAGCG		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	24/69						chr10	TogoVar
CDH4_chr20_61247261_61945617	61944636	CTGCGACC others(40): Show CTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0091 a0001c0001t0019g0091	1	106	0.0094	-47	c.76 others(58): Show c.7694_*7740delTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCAC TGACGATGAGCAT		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4020		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944646	CTGCACCG others(40): Show CTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGCATTGCGACTGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG03130.hp2 HG02055.hp2 HG02647.hp1 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0016 a0002c0002 a0002c0004 a0002c0016	a0002c0002t0013 a0002c0004t0013 a0002c0016t0004 a0002c0002t0013 a0002c0004t0013 a0002c0016t0004	a0002c0002t0013g0017 a0002c0004t0013g0021 a0002c0016t0004g0042 a0002c0002t0013g0017 a0002c0004t0013g0021 a0002c0016t0004g0042	3	106	0.0283	-47	c.77 others(58): Show c.7704_*7750delTGCACCGTGGCCGCCCCTTCTCACTGACGATGAG CATTGCGACTGTA		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4030		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945570	ATGATGAG others(40): Show ATGATGAGGAACATTGAGACTGTCTGCCCCGTGGCTGCCCCTTCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA19240.hp2 HG03927.hp1 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0005 a0004c0019 a0002c0005 a0004c0019	a0002c0005t0002 a0004c0019t0001 a0002c0005t0002 a0004c0019t0001	a0002c0005t0002g0061 a0004c0019t0001g0015 a0002c0005t0002g0061 a0004c0019t0001g0015	2	106	0.0189	-47	c.86 others(58): Show c.8628_*8674delTGATGAGGAACATTGAGACTGTCTGCCCCGTGGC TGCCCCTTCTCAC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4954		chr20	TogoVar
CDK12_chr17_39456486_39539544	39481669	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0107 a0001c0001t0010g0106 a0001c0001t0010g0107	2	260	0.0077	-47	c.193 others(66): Show c.1932-8887_1932-8841delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTTTCTC		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13						chr17	TogoVar
CDK14_chr7_90591321_91215590	91179065	CAACAATG others(40): Show CAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	168	0.0060	-47	c.29 others(66): Show c.29-28050_*29-28004delCAATGATAGACTGGATTAAGAAAATG TGGCACATATACACCATGGAA		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
CEACAM20_chr19_44501159_44534675	44532525	GGAAAGAA others(40): Show GGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAGAAAGAAAGAAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18939.hp1 NA18939.hp2 others(7): Show NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18959.hp2 NA18966.hp1 NA18975.hp2 NA19005.hp1 NA19054.hp1 NA19078.hp1 NA19091.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0003 a0003c0004 a0004c0003	a0003c0004t0001 a0004c0003t0001 a0003c0004t0001 a0004c0003t0001	a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0223 others(7): Show a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0223 a0004c0003t0001g0317 a0004c0003t0001g0319 a0004c0003t0001g0322 a0004c0003t0001g0325 a0004c0003t0001g0328 a0004c0003t0001g0329 a0004c0003t0001g0353	10	438	0.0228	-47	c.-30 others(58): Show c.-3063_-3017delTTTCTTTTCTTTCTTTCTTCCTTTCTTTCCTTTC TTTCCTTTCTTTC		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding					2851		chr19	TogoVar
CECR2_chr22_17364460_17563151	17419523	GAAGAAGA others(40): Show GAAGAAGAGGAAGAGGAAGAGGAAGAGGAGGAGGAGGAGGAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0039 a0002c0002t0055g0039	1	324	0.0031	-47	c.126 others(66): Show c.126+49622_126+49668delGGAAGAGGAAGAGGAAGAGGAGGAGG AGGAGGAGGAAGAAAAGAAGA		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
CENPF_chr1_214598195_214669571	214616892	TCTTTCTT others(40): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0221 a0004c0004t0002g0221	1	282	0.0036	-47	c.360 others(64): Show c.360-1679_360-1633delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCTTTCTTTCCACCCTCC		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CER1_chr9_14714724_14727733	14720210	GGAGGAAA others(40): Show GGAGGAAAGTTCAGTGCAGTTCAGTGGCAAGTGCATCGTGGTGAACTT	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp2 NA19075.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0027 a0006c0010t0003g0027	1	460	0.0022	-47	c.637 others(54): Show c.637_683delAAGTTCACCACGATGCACTTGCCACTGAACTGCACTGA ACTTTCCTC	p.Lys others(5): Show p.Lys213fs	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding	2/2	744/1231	637/804	213/267			chr9	TogoVar
CFAP20DC_chr3_58737008_59055025	58873250	TCTGGATG others(40): Show TCTGGATGCTGTAAGGCAAGTGCTCAAGCAGAAGTCTGGATAGCTGTG	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	204	0.0049	-47	c.716 others(64): Show c.716-2988_716-2942delCACAGCTATCCAGACTTCTGCTTGAGCA CTTGCCTTACAGCATCCAG		CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	7/16						chr3	TogoVar
CFAP47_chrX_35914734_36390317	36261935	CGGCTGGC others(40): Show CGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01109.hp1 others(8): Show HG00408.hp1 HG00621.hp1 HG01109.hp1 HG01168.hp1 HG01257.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG03669.hp1 NA18967.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0002c0067 a0003c0004 others(1): Show a0002c0002 a0002c0067 a0003c0004 a0008c0009	a0002c0002t0001 a0002c0067t0001 a0003c0004t0001 others(1): Show a0002c0002t0001 a0002c0067t0001 a0003c0004t0001 a0008c0009t0001	a0002c0002t0001g0154 a0002c0002t0001g0160 a0002c0002t0001g0163 others(8): Show a0002c0002t0001g0154 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0067t0001g0161 a0003c0004t0001g0041 a0003c0004t0001g0044 a0008c0009t0001g0144 a0008c0009t0001g0148 a0008c0009t0001g0159 a0008c0009t0001g0164 a0008c0009t0001g0165	11	216	0.0509	-47	c.744 others(68): Show c.7444+10525_7444+10571delCTCCCGGACGGGGTGGCTGGCCGG GCGGGGGCTGACCCCCCACCTCC		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	49/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP77_chr9_132405211_132578319	132486043	TATGTATA others(40): Show TATGTATATGTATGTGTGTGTGTGTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0261 a0004c0009t0001g0261	1	322	0.0031	-47	c.196 others(66): Show c.196-12651_196-12605delATGTATATGTATGTGTGTGTGTGTAT ATATATATATATATATATATA		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5						chr9	TogoVar
CFAP92_chr3_128904873_128999076	128954917	GGGGTGTC others(40): Show GGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03710.hp1 HG02895.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0286 a0001c0001t0001g0237 a0001c0001t0001g0286	2	342	0.0059	-47	c.135 others(66): Show c.1354-8989_1354-8943delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACACCC		CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15						chr3	TogoVar
CFI_chr4_109735695_109806999	109753576	ATATTTAT others(40): Show ATATTTATTATATAAATAAATATTTATAATATATATTTATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	354	0.0028	-47	c.905 others(64): Show c.905-1120_905-1074delAATATATAATAAATATATATTATAAATA TTTATTTATATAATAAATA		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12						chr4	TogoVar
CHAF1B_chr21_36380392_36424015	36401550	TTTTTATA others(40): Show TTTTTATATTATACATAATATATATTTTTATATTATACATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01256.hp1 HG01358.hp1 others(4): Show HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01978.hp2 HG03139.hp1 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0034 a0001c0001t0009g0037 a0001c0001t0009g0038 others(4): Show a0001c0001t0009g0034 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0011g0015 a0001c0001t0011g0017 a0001c0001t0011g0020 a0001c0001t0011g0021	7	346	0.0202	-47	c.664 others(64): Show c.664-1171_664-1125delCATAATATATATTTTATATTATACATAA TATATATTTTTATATTATA		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHKB_chr22_50573963_50587849	50585316	CATTTATA others(40): Show CATTTATATGGGAAGGACAGCTCTGTAAATGGTCTTGCTTCTTGCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-47	c.-25 others(58): Show c.-2582_-2536delACAGCAAGAAGCAAGACCATTTACAGAGCTGTCC TTCCCATATAAAT		CHKB	ENSG00000100288.20	transcript	ENST00000406938.3	protein_coding					2468		chr22	TogoVar
CHRNA4_chr20_63338223_63366349	63357155	GTCTCCAC others(40): Show GTCTCCACAGGACCACATTCCCACAGGACCACAACCCACAGGACCACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(98): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18945.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0006 a0001c0001 a0001c0002 others(6): Show a0000c0006 a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0016 a0002c0012	a0000c0006t0003 a0000c0006t0004 a0000c0006t0028 others(27): Show a0000c0006t0003 a0000c0006t0004 a0000c0006t0028 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0004 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0005t0001 a0001c0005t0004 a0001c0005t0031 a0001c0007t0008 a0001c0008t0001 a0001c0009t0008 a0001c0016t0001 a0002c0012t0003	a0000c0006t0003g0109 a0000c0006t0004g0095 a0000c0006t0028g0079 others(86): Show a0000c0006t0003g0109 a0000c0006t0004g0095 a0000c0006t0028g0079 a0001c0001t0001g0066 a0001c0001t0003g0006 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0132 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0004g0005 a0001c0001t0004g0011 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0009g0044 a0001c0001t0009g0045 a0001c0001t0009g0082 a0001c0001t0017g0015 a0001c0001t0019g0031 a0001c0001t0020g0092 a0001c0001t0027g0086 a0001c0001t0029g0124 a0001c0001t0030g0114 a0001c0001t0032g0116 a0001c0001t0033g0112 a0001c0001t0034g0131 a0001c0001t0035g0117 a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0081 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0004g0049 a0001c0002t0024g0102 a0001c0002t0025g0096 a0001c0002t0026g0067 a0001c0005t0001g0064 a0001c0005t0001g0065 a0001c0005t0001g0072 a0001c0005t0004g0055 a0001c0005t0004g0059 a0001c0005t0031g0138 a0001c0007t0008g0035 a0001c0007t0008g0037 a0001c0008t0001g0009 a0001c0008t0001g0038 a0001c0009t0008g0036 a0001c0016t0001g0040 a0002c0012t0003g0119	101	168	0.6012	-47	c.229 others(62): Show c.229-787_229-741delTGTGGTCCTGTGGGTTGTGGTCCTGTGGGA ATGTGGTCCTGTGGAGA		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	2/5						chr20	TogoVar
CHST8_chr19_33616953_33778506	33757482	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03453.hp2 HG03704.hp2 HG01496.hp1 HG03453.hp2 HG03704.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0003t0003 a0004c0005t0004 a0001c0001t0001 a0001c0003t0003 a0004c0005t0004	a0001c0001t0001g0252 a0001c0003t0003g0124 a0004c0005t0004g0008 a0001c0001t0001g0252 a0001c0003t0003g0124 a0004c0005t0004g0008	3	254	0.0118	-47	c.131 others(66): Show c.131-13928_131-13882delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST9_chr18_26901481_27190308	27051269	AGCCAGGC others(40): Show AGCCAGGCATGGTGGCACACATCTGTCACCTCCCTAATTAGTTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	262	0.0038	-47	c.122 others(64): Show c.122-2813_122-2767delCTCCCAACTAATTAGGGAGGTGACAGAT GTGTGCCACCATGCCTGGC		CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5						chr18	TogoVar
CIR1_chr2_174343022_174400712	174354561	TTTATATA others(40): Show TTTATATATTATATTATATATTATATATATCATATAATATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(186): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19078.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0001 a0003c0004 a0004c0003 others(2): Show a0001c0001 a0003c0004 a0004c0003 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0003c0004t0001 a0004c0003t0001 a0006c0006t0001 a0007c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(176): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0007g0147 a0001c0001t0007g0169 a0001c0001t0008g0022 a0001c0001t0009g0291 a0003c0004t0001g0299 a0003c0004t0001g0301 a0004c0003t0001g0011 a0006c0006t0001g0311 a0007c0007t0001g0122	189	348	0.5431	-47	c.485 others(64): Show c.485-2883_485-2837delTATAATATATATTATATGATATATATAA TATATAATATAATATATAA		CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9						chr2	TogoVar
CLASP2_chr3_33491245_33723254	33712984	CCTGGGCG others(40): Show CCTGGGCGACAAGAGCAAAACTCCACCTCAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18990.hp2 HG04204.hp2 NA18990.hp2	a0001 a0001	a0001c0008 a0001c0010 a0001c0008 a0001c0010	a0001c0008t0001 a0001c0010t0001 a0001c0008t0001 a0001c0010t0001	a0001c0008t0001g0002 a0001c0010t0001g0003 a0001c0008t0001g0002 a0001c0010t0001g0003	2	278	0.0072	-47	c.195 others(64): Show c.195+4777_195+4823delTTTTTTTTTTTTTTTTTTTGAGGTGGAG TTTTGCTCTTGTCGCCCAG		CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	1/38						chr3	TogoVar
CLCN4_chrX_10151975_10242660	10239519	TTTTTTTT others(40): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	264	0.0038	-47	c.59 others(58): Show c.5936_*5982delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGATGGAGTCTCA		CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding					1860		chrX	TogoVar
CLDN4_chr7_73825996_73837690	73836217	GGGAGGGA others(40): Show GGGAGGGAGGTGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	372	0.0027	-47	c.43 others(58): Show c.4387_*4433delGGAGGGAGGTGGGGGCATCAGCCCCCCGCCCGGC CAGCCGCCCCGTC		CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding					3528		chr7	TogoVar
CLMN_chr14_95176940_95324908	95245178	ATATATAT others(40): Show ATATATATATATATATAATATATATATATATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	276	0.0036	-47	c.83- others(64): Show c.83-15092_83-15046delATATATATATATATATAATATATATATA TATTATATATATATATATA		CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12						chr14	TogoVar
CLMP_chr11_123064872_123200248	123118958	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0190 a0001c0001t0021g0190	1	254	0.0039	-47	c.29- others(64): Show c.29-21053_29-21007delGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAA		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLP1_chr11_57652762_57666865	57662262	AATGCTGG others(40): Show AATGCTGGGATTACAGGTGTGAGACACTGTGCCCGGCTGTGAGTTCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	-47	c.82 others(56): Show c.827_*873delATGCTGGGATTACAGGTGTGAGACACTGTGCCCGGC TGTGAGTTCTT		CLP1	ENSG00000172409.7	transcript	ENST00000533682.2	protein_coding					398		chr11	TogoVar
CLUL1_chr18_591988_655182	626962	GGAAGGAA others(40): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01515.hp2 HG01517.hp1 others(1): Show HG01123.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0065	4	414	0.0097	-47	c.424 others(61): Show c.424-134_424-88delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAA		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9						chr18	TogoVar
CNNM2_chr10_102913294_103095222	103091148	CCTCAGCC others(40): Show CCTCAGCCACCCTAATTAGCTGGGATTACAGGCATGTGCCACCACACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0014 a0003c0008t0014	a0003c0008t0014g0074 a0003c0008t0014g0074	1	270	0.0037	-47	c.13 others(60): Show c.13969_*14015delCTCAGCCACCCTAATTAGCTGGGATTACAGGC ATGTGCCACCACACT		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding					927		chr10	TogoVar
CNTNAP2_chr7_146111801_148425998	147575137	GTGTGTGT others(40): Show GTGTGTGTGTGTGTGTATTCCCTAGCTTTAGGAGTATGCATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02886.hp2 others(2): Show HG02630.hp1 HG02717.hp2 HG02886.hp2 HG02897.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0008 others(1): Show a0001c0002 a0001c0005 a0001c0008 a0001c0012	a0001c0002t0001 a0001c0005t0008 a0001c0005t0022 others(2): Show a0001c0002t0001 a0001c0005t0008 a0001c0005t0022 a0001c0008t0001 a0001c0012t0004	a0001c0002t0001g0008 a0001c0005t0008g0005 a0001c0005t0022g0032 others(2): Show a0001c0002t0001g0008 a0001c0005t0008g0005 a0001c0005t0022g0032 a0001c0008t0001g0025 a0001c0012t0004g0026	5	40	0.1250	-47	c.189 others(68): Show c.1897+12896_1897+12942delATTCCCTAGCTTTAGGAGTATGCA TATGTGTATGTGTGTGTGTGTGT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147575192	GTGTGTGT others(40): Show GTGTGTGTGTGTATTCCCTAGCTTTAGGAGTATGCATATGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp2 HG02976.hp2 HG00735.hp1 HG02451.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0003t0020 a0001c0006t0014 a0001c0001t0002 a0001c0003t0020 a0001c0006t0014	a0001c0001t0002g0006 a0001c0003t0020g0017 a0001c0006t0014g0033 a0001c0001t0002g0006 a0001c0003t0020g0017 a0001c0006t0014g0033	3	40	0.0750	-47	c.189 others(68): Show c.1897+12947_1897+12993delATTCCCTAGCTTTAGGAGTATGCA TATGTGTGTGTTTGTGTGTGTGT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76373224	GAATATAT others(40): Show GAATATATTCCACATAAATAGGTGAATATATTCCACATATATATGTGA	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	274	0.0037	-47	c.390 others(66): Show c.390+17733_390+17779delGGTGAATATATTCCACATATATATGT GAAATATATTCCACATAAATA		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
COL23A1_chr5_178232618_178595393	178559885	AGAAGTCT others(40): Show AGAAGTCTGAGACACATCACCCAAAAGTCACCTTTCCCTGCACGTCGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01167.hp1 others(1): Show HG01070.hp1 HG01074.hp1 HG01167.hp1 HG01346.hp1	a0003 a0004 a0003 a0004	a0003c0007 a0004c0006 a0003c0007 a0004c0006	a0003c0007t0001 a0004c0006t0003 a0003c0007t0001 a0004c0006t0003	a0003c0007t0001g0030 a0003c0007t0001g0102 a0003c0007t0001g0103 others(1): Show a0003c0007t0001g0030 a0003c0007t0001g0102 a0003c0007t0001g0103 a0004c0006t0003g0130	4	236	0.0170	-47	c.361 others(62): Show c.361+750_361+796delCCGACGTGCAGGGAAAGGTGACTTTTGGGT GATGTGTCTCAGACTTC		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(40): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01952.hp1 HG03492.hp1 others(4): Show HG00280.hp1 HG01952.hp1 HG03492.hp1 HG04199.hp2 NA18906.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 others(1): Show a0001c0002 a0001c0005 a0002c0004 a0002c0007	a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 others(3): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 a0001c0005t0002 a0002c0004t0001 a0002c0007t0004	a0001c0002t0003g0047 a0001c0002t0006g0041 a0001c0002t0016g0030 others(4): Show a0001c0002t0003g0047 a0001c0002t0006g0041 a0001c0002t0016g0030 a0001c0005t0002g0160 a0002c0004t0001g0070 a0002c0007t0004g0008 a0002c0007t0004g0020	7	174	0.0402	-47	c.385 others(66): Show c.385+41926_385+41972delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL5A1_chr9_134636803_134849843	134653988	GGCTGGTG others(40): Show GGCTGGTGTGTGTAGGGCTGGAGGTGTGTAGGGCTGGAGTTGTGTAGA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0052 a0001c0015t0052	a0001c0015t0052g0016 a0001c0015t0052g0016	1	272	0.0037	-47	c.109 others(66): Show c.109+11720_109+11766delTAGGGCTGGAGTTGTGTAGAGCTGGT GTGTGTAGGGCTGGAGGTGTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760359	ACATACAC others(40): Show ACATACACACACACCACACATGCATACACACCCCCACACCCCCACACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01167.hp2 others(14): Show HG00140.hp1 HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp2 HG02735.hp2 HG03516.hp1 HG04199.hp1 HG04204.hp1 NA19043.hp1 NA19240.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0031 a0001c0044 a0012c0043	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0003t0008 a0001c0003t0015 a0001c0004t0002 a0001c0004t0018 a0001c0006t0019 a0001c0007t0004 a0001c0007t0017 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0031t0006 a0001c0044t0057 a0012c0043t0043	a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0009g0233 others(14): Show a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0009g0233 a0001c0003t0008g0187 a0001c0003t0015g0188 a0001c0004t0002g0046 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0006t0019g0264 a0001c0007t0004g0028 a0001c0007t0017g0241 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0031t0006g0048 a0001c0044t0057g0042 a0012c0043t0043g0037	17	272	0.0625	-47	c.193 others(66): Show c.1936-1555_1936-1509delCACCACACATGCATACACACCCCCAC ACCCCCACACTCATACACACA		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760697	ACACACAC others(40): Show ACACACACACCCACACACCCATACACACATGCACACACACCACACATG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0268 a0001c0015t0001g0268	1	272	0.0037	-47	c.193 others(66): Show c.1936-1216_1936-1170delACACACCCATACACACATGCACACAC ACCACACATGCACACACACCC		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45977812	GAGGGAGG others(40): Show GAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01255.hp2 HG02451.hp2 others(6): Show HG01123.hp1 HG01255.hp2 HG02451.hp2 HG02630.hp1 HG02895.hp2 HG03492.hp2 NA19005.hp1 NA19070.hp2 NA19079.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 others(2): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0004c0005t0001	a0002c0002t0001g0040 a0002c0002t0008g0117 a0002c0002t0009g0084 others(6): Show a0002c0002t0001g0040 a0002c0002t0008g0117 a0002c0002t0009g0084 a0002c0002t0010g0039 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0004c0005t0001g0058	9	128	0.0703	-47	c.-40 others(58): Show c.-4038_-3992delAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGG AGGGAGGGGGAGA		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					3957		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988073	GTCCAGAT others(40): Show GTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	128	0.0078	-47	c.804 others(62): Show c.804+420_804+466delTCCAGATGGAGGGGACGTCGGGGCTCCAGA TGGAGGGGACGGCGGGA		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34						chr21	TogoVar
COL6A2_chr21_46093112_46134801	46133639	GGGATGAG others(40): Show GGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(145): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0005 a0001c0006 others(16): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0029 a0001c0030 a0002c0003 a0003c0004 a0003c0007 a0005c0015 a0006c0037 a0006c0038	a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 others(18): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0005 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0020t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0001c0029t0001 a0001c0030t0001 a0002c0003t0003 a0003c0004t0001 a0003c0007t0001 a0005c0015t0001 a0006c0037t0001 a0006c0038t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(134): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0337 a0001c0005t0001g0005 a0001c0005t0001g0036 a0001c0005t0001g0040 a0001c0005t0001g0100 a0001c0005t0001g0104 a0001c0005t0001g0110 a0001c0005t0001g0112 a0001c0005t0001g0118 a0001c0005t0001g0130 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0165 a0001c0005t0001g0171 a0001c0005t0001g0190 a0001c0005t0001g0264 a0001c0005t0002g0177 a0001c0005t0003g0251 a0001c0006t0005g0236 a0001c0009t0001g0106 a0001c0009t0001g0111 a0001c0009t0001g0115 a0001c0009t0001g0120 a0001c0009t0001g0121 a0001c0009t0001g0148 a0001c0010t0001g0172 a0001c0010t0001g0191 a0001c0011t0001g0335 a0001c0011t0001g0336 a0001c0012t0001g0240 a0001c0012t0001g0257 a0001c0020t0001g0181 a0001c0021t0001g0180 a0001c0023t0001g0034 a0001c0024t0001g0009 a0001c0029t0001g0143 a0001c0030t0001g0160 a0002c0003t0003g0092 a0002c0003t0003g0228 a0003c0004t0001g0312 a0003c0007t0001g0204 a0005c0015t0001g0082 a0005c0015t0001g0162 a0006c0037t0001g0088 a0006c0038t0001g0089	148	372	0.3979	-47	c.41 others(58): Show c.4149_*4195delGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCTA		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding					3839		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133639	GGGATGAG others(40): Show GGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(139): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0011 a0012	a0001c0001 a0001c0004 a0001c0006 others(24): Show a0001c0001 a0001c0004 a0001c0006 a0001c0011 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0025 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0048 a0001c0049 a0002c0003 a0003c0010 a0003c0016 a0009c0058 a0009c0059 a0011c0053 a0012c0052	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(27): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0004t0001 a0001c0006t0001 a0001c0006t0010 a0001c0011t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0006 a0001c0022t0001 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0048t0001 a0001c0049t0001 a0002c0003t0001 a0003c0010t0001 a0003c0016t0001 a0009c0058t0001 a0009c0059t0001 a0011c0053t0001 a0012c0052t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(133): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0214 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0006g0132 a0001c0001t0006g0171 a0001c0001t0011g0334 a0001c0004t0001g0007 a0001c0004t0001g0037 a0001c0004t0001g0042 a0001c0004t0001g0102 a0001c0004t0001g0104 a0001c0004t0001g0110 a0001c0004t0001g0112 a0001c0004t0001g0118 a0001c0004t0001g0131 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0162 a0001c0004t0001g0168 a0001c0004t0001g0174 a0001c0004t0001g0186 a0001c0004t0001g0248 a0001c0004t0001g0261 a0001c0006t0001g0002 a0001c0006t0001g0151 a0001c0006t0001g0165 a0001c0006t0001g0167 a0001c0006t0001g0180 a0001c0006t0001g0188 a0001c0006t0001g0242 a0001c0006t0001g0303 a0001c0006t0001g0304 a0001c0006t0001g0306 a0001c0006t0010g0164 a0001c0011t0001g0106 a0001c0011t0001g0111 a0001c0011t0001g0115 a0001c0011t0001g0120 a0001c0011t0001g0121 a0001c0011t0001g0177 a0001c0014t0001g0002 a0001c0014t0001g0003 a0001c0014t0001g0012 a0001c0018t0001g0169 a0001c0018t0001g0187 a0001c0019t0001g0332 a0001c0019t0001g0333 a0001c0020t0001g0002 a0001c0020t0001g0117 a0001c0021t0006g0145 a0001c0021t0006g0176 a0001c0022t0001g0236 a0001c0022t0001g0254 a0001c0025t0001g0232 a0001c0034t0001g0178 a0001c0036t0001g0035 a0001c0037t0001g0012 a0001c0038t0001g0129 a0001c0039t0001g0281 a0001c0040t0001g0008 a0001c0041t0001g0128 a0001c0048t0001g0144 a0001c0049t0001g0158 a0002c0003t0001g0094 a0002c0003t0001g0224 a0003c0010t0001g0310 a0003c0016t0001g0200 a0009c0058t0001g0090 a0009c0059t0001g0091 a0011c0053t0001g0084 a0012c0052t0001g0160	142	364	0.3901	-47	c.10 others(58): Show c.1088_*1134delGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCTA		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding					792		chr21	TogoVar
COLEC11_chr2_3590112_3649644	3590715	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01069.hp1 others(14): Show HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01109.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01975.hp1 HG02148.hp1 HG02300.hp1 HG02698.hp2 HG03540.hp1 NA18955.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0001c0001t0001 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0187 a0001c0001t0001g0188 others(13): Show a0001c0001t0001g0012 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0312 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0349 a0002c0003t0001g0334 a0002c0004t0001g0317	17	378	0.0450	-47	c.-44 others(58): Show c.-4479_-4433delCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCA GGCGGGGGGCTGA		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding					4396		chr2	TogoVar
CORO1C_chr12_108640109_108736518	108656294	CTCAGCCC others(40): Show CTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(189): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp1 NA19075.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0002c0003 a0004c0005 others(2): Show a0001c0001 a0002c0003 a0004c0005 a0005c0007 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0002c0003t0001 a0004c0005t0001 a0005c0007t0001 a0006c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(188): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0053 a0001c0001t0002g0068 a0001c0001t0002g0195 a0001c0001t0005g0184 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0006g0130 a0001c0001t0006g0148 a0001c0001t0006g0162 a0001c0001t0006g0182 a0001c0001t0010g0235 a0001c0001t0011g0055 a0002c0003t0001g0002 a0004c0005t0001g0067 a0005c0007t0001g0047 a0006c0008t0001g0010	192	326	0.5890	-47	c.750 others(63): Show c.750+963_750+1009delCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGCTGA		CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	6/10						chr12	TogoVar
CORO1C_chr12_108640109_108736518	108656304	GCCCGGCC others(40): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0321 a0001c0001t0021g0321	1	326	0.0031	-47	c.750 others(62): Show c.750+953_750+999delTGGGGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGG		CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	6/10						chr12	TogoVar

Search by Variant

Search

Search Results (Total: 916 hits)