Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL6A6_chr3_130512177_130682042	130636912	T T	TCCCCTCC others(36): Show TCCCCTCCCCCTCCCCTCCCCTTCCCCCCCCTCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG03453.hp2 HG02572.hp1 HG02615.hp1 HG03453.hp2	a0021 a0033 a0021 a0033	a0021c0030 a0033c0077 a0021c0030 a0033c0077	a0021c0030t0001 a0021c0030t0004 a0033c0077t0001 a0021c0030t0001 a0021c0030t0004 a0033c0077t0001	a0021c0030t0001g0156 a0021c0030t0004g0103 a0033c0077t0001g0148 a0021c0030t0001g0156 a0021c0030t0004g0103 a0033c0077t0001g0148	3	264	0.0114	43	c.509 others(62): Show c.5091+1178_5091+1179insCCCTCCCCTCCCCTTCCCCCTCCCCC TCCCCTCCCCTTCCCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02155.hp2 HG02056.hp1 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0090 a0002c0002t0001g0006 a0002c0002t0001g0090	2	438	0.0046	43	c.-11 others(54): Show c.-1118_-1117insAAAAAAAAAAAAAAATATATATATATATATATAT ATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	438	0.0023	43	c.-11 others(54): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(36): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA18960.hp2 HG00323.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0164 a0001c0001t0001g0035 a0001c0001t0001g0164	2	438	0.0046	43	c.-11 others(54): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COMMD7_chr20_32697699_32748467	32701061	T T	TGGTACGA others(36): Show TGGTACGATATCGGCTCACTGCAACTTCTGCCTCCCAGGTTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	400	0.0025	43	c.23 others(54): Show c.2320_*2321insTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCGA TATCGTACC	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding		1637		chr20	TogoVar
COP1_chr1_175939831_176212286	176151361	G G	GAAAGAAA others(36): Show GAAAGAAAAAGAAAGAAAGAAAGAAAAATAAAGAAAGAAAAAGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	300	0.0033	43	c.763 others(60): Show c.763-2288_763-2287insTCTTTTTCTTTCTTTATTTTTCTTTCTT TCTTTCTTTTTCTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19			chr1	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0147 a0002c0003t0001g0147	1	330	0.0030	43	c.735 others(58): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TCTTTCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPEB2_chr4_14997481_15075151	15031901	G G	GCTTGCTG others(36): Show GCTTGCTGAGGTGGTAAAGGTAGATGCAGTTAATCTGTAGAGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0096 a0006c0007t0008g0096	1	288	0.0035	43	c.212 others(62): Show c.2126-1229_2126-1187dupAATCTGTAGAGGACTTGCTGAGGTGG TAAAGGTAGATGCAGTT	CPEB2	ENSG00000137449.17	transcript	ENST00000538197.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPEB3_chr10_92041692_92296078	92289780	T T	TATATGTA others(36): Show TATATGTATTATATATTATAAATGTATTATATATTATATAATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0271 a0001c0001t0005g0271	1	278	0.0036	43	c.-12 others(60): Show c.-12+1103_-12+1145dupGTATTATATAATATATAATACATTTATA ATATATAATACATAT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289798	T T	TAAATGTA others(36): Show TAAATGTATTATATATTATATAATACATATGTATTATATATTAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02723.hp2 HG02572.hp2 HG02622.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0036 a0001c0001t0037 a0001c0001t0011 a0001c0001t0036 a0001c0001t0037	a0001c0001t0011g0272 a0001c0001t0036g0275 a0001c0001t0037g0273 a0001c0001t0011g0272 a0001c0001t0036g0275 a0001c0001t0037g0273	3	278	0.0108	43	c.-12 others(60): Show c.-12+1127_-12+1128insGTAATATATAATACATATGTATTATATA ATATATAATACATTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 homoSapiens_chm13v2.hp1 HG03710.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0287 a0001c0001t0001g0108 a0001c0001t0001g0287	2	332	0.0060	43	c.308 others(60): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPNE4_chr3_131528569_132040014	131978066	T T	TAAATATA others(36): Show TAAATATATATAAATATATATAAATATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0086 a0001c0004t0010g0086	1	94	0.0106	43	c.-2+ others(60): Show c.-2+56458_-2+56500dupTATATATATTTATATATATATTTATATA TATTTATATATATTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978092	T T	TATAAATA others(36): Show TATAAATATATATAAATATATATATTTATATAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG03041.hp2 HG02559.hp2 HG02647.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0001 a0001c0003t0003 a0001c0001t0008 a0001c0003t0001 a0001c0003t0003	a0001c0001t0008g0066 a0001c0003t0001g0044 a0001c0003t0003g0045 a0001c0001t0008g0066 a0001c0003t0001g0044 a0001c0003t0003g0045	3	94	0.0319	43	c.-2+ others(60): Show c.-2+56474_-2+56475insTTTATATATATTTATATAAATATATATA TTTATATATATTTAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587883	A A	ACCCACAG others(36): Show ACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	348	0.0029	43	c.927 others(58): Show c.927+784_927+785insACAGATACACGGCCCCCCGTGTCACCCACA GATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588128	A A	ACCCACAG others(36): Show ACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	348	0.0029	43	c.928 others(58): Show c.928-544_928-543insACAGATACACGGCCCCCCGTGTTACCCACA GATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588165	A A	ACCCACAG others(36): Show ACCCACAGATACACGGCCCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0155 a0001c0002t0004g0155	1	348	0.0029	43	c.928 others(58): Show c.928-507_928-506insACAGATACACGGCCCCGCGTGTCACCCACA GATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	364	0.0028	43	c.103 others(60): Show c.103+1490_103+1491insATATATATATATATATATATATATATAT ATATGTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69236426	T T	TTAAAATA others(36): Show TTAAAATATATATAGCATATATATATTAAAATATATATAGCATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp2 HG03471.hp1 HG02451.hp1 HG02647.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0027 a0001c0002t0001g0089 a0001c0002t0001g0093	3	392	0.0077	43	c.-32 others(54): Show c.-3221_-3220insTAAAATATATATAGCATATATATATTAAAATATA TATAGCATA	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3142		chr12	TogoVar
CREB3L3_chr19_4148631_4178054	4172386	C C	CACAGCTG others(36): Show CACAGCTGAAACAGATCCGGACAGACAGACACAGACAGACAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0303 a0001c0001t0016g0303	1	404	0.0025	43	c.42 others(52): Show c.422_*423insTGAAACAGATCCGGACAGACAGACACAGACAGACAG AAACAGC	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	10/10	423	INFO_REALIGN_3_PRIME	chr19	TogoVar
CRHR1_chr17_45779320_45840828	45800494	G G	GGGACTTT others(36): Show GGGACTTTATATTGCAGATGCAGGTCTCCTGGTTCCCCACAAAT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	301	0.0033	43	c.34- others(58): Show c.34-6513_34-6471dupACTTTATATTGCAGATGCAGGTCTCCTGGT TCCCCACAAATGG	CRHR1	ENSG00000120088.16	transcript	ENST00000314537.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CRISP2_chr6_49687359_49718543	49701610	G G	GTATATGT others(36): Show GTATATGTATACATTATATATGTATACATTATATATGTATACAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02135.hp1 HG02148.hp2 others(7): Show HG00673.hp2 HG02135.hp1 HG02148.hp2 HG03579.hp1 HG03654.hp1 NA18941.hp1 NA18944.hp2 NA18970.hp1 NA19002.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0019 a0001c0001t0001g0108 a0001c0001t0001g0109 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0005g0068 a0001c0001t0006g0133	10	410	0.0244	43	c.67- others(56): Show c.67-827_67-826insATGTATACATATATAATGTATACATATATAAT GTATACATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRISP2_chr6_49687359_49718543	49701618	A A	ATACATTA others(36): Show ATACATTATATATGTATACATTATATATGTATACATTATATATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00673.hp1 others(17): Show HG00438.hp2 HG00558.hp1 HG00673.hp1 HG01175.hp1 HG01496.hp2 HG02148.hp1 HG02572.hp2 HG02717.hp2 HG03486.hp1 HG03688.hp2 NA18954.hp1 NA18969.hp1 NA18974.hp2 NA18987.hp1 NA18992.hp2 NA19006.hp2 NA19056.hp1 NA19066.hp1 NA19074.hp2 NA19075.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0007c0009t0001	a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0061 others(14): Show a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0276 a0001c0001t0002g0249 a0001c0001t0008g0272 a0007c0009t0001g0265	20	410	0.0488	43	c.67- others(56): Show c.67-835_67-834insCATATATAATGTATACATATATAATGTATACA TATATAATGTA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRLF2_chrX_1185490_1217649	1191361	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03491.hp2 NA18964.hp2 others(3): Show HG01258.hp1 HG03491.hp2 NA18964.hp2 NA18990.hp1 NA18999.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0072 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0115 a0002c0005t0001g0118	6	167	0.0359	43	c.853 others(58): Show c.853-202_853-201insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	7/7			chrX	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATAGATAGATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01981.hp2 HG02486.hp2 HG01109.hp1 HG01981.hp2 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0024 a0002c0002t0096 a0001c0001t0014 a0001c0001t0024 a0002c0002t0096	a0001c0001t0014g0057 a0001c0001t0024g0056 a0002c0002t0096g0257 a0001c0001t0014g0057 a0001c0001t0024g0056 a0002c0002t0096g0257	3	290	0.0103	43	c.684 others(62): Show c.684+33309_684+33310insATATATCTATCTATATATATATATAT ATATTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRYBB3_chr22_25194858_25212359	25210903	C C	CAGATGTT others(36): Show CAGATGTTAAAATAGGGATATGAAAGACAAAGTCAATGGATGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	454	0.0022	43	c.36 others(54): Show c.3691_*3692insAGATGTTAAAATAGGGATATGAAAGACAAAGTCA ATGGATGTT	CRYBB3	ENSG00000100053.10	transcript	ENST00000215855.7	protein_coding		3545		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361970	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02886.hp1 HG03098.hp2 others(1): Show HG02165.hp2 HG02886.hp1 HG03098.hp2 NA18906.hp2	a0004 a0012 a0013 others(1): Show a0004 a0012 a0013 a0057	a0004c0004 a0012c0015 a0013c0016 others(1): Show a0004c0004 a0012c0015 a0013c0016 a0057c0034	a0004c0004t0002 a0012c0015t0007 a0013c0016t0001 others(1): Show a0004c0004t0002 a0012c0015t0007 a0013c0016t0001 a0057c0034t0007	a0004c0004t0002g0142 a0012c0015t0007g0239 a0013c0016t0001g0136 others(1): Show a0004c0004t0002g0142 a0012c0015t0007g0239 a0013c0016t0001g0136 a0057c0034t0007g0240	4	272	0.0147	43	c.173 others(58): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSGALNACT1_chr8_19399161_19762277	19577401	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0098 a0001c0002t0003g0098	1	238	0.0042	43	c.-29 others(64): Show c.-297+24369_-297+24370insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448401	A A	AGGAAGGA others(36): Show AGGAAGGAAGGAAGAAAGGGAGGGAGGGAGAGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp2 HG01243.hp2 others(22): Show HG00423.hp1 HG01081.hp2 HG01243.hp2 HG01884.hp2 HG01934.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19090.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0010 a0017 a0020 a0025 a0027 a0035 a0036	a0001c0004 a0001c0007 a0001c0019 others(21): Show a0001c0004 a0001c0007 a0001c0019 a0001c0020 a0001c0025 a0001c0026 a0001c0068 a0001c0079 a0002c0022 a0002c0035 a0002c0060 a0002c0070 a0002c0091 a0002c0092 a0003c0014 a0004c0099 a0005c0107 a0010c0112 a0017c0106 a0020c0024 a0025c0096 a0027c0023 a0035c0098 a0036c0100	a0001c0004t0020 a0001c0004t0063 a0001c0007t0032 others(22): Show a0001c0004t0020 a0001c0004t0063 a0001c0007t0032 a0001c0019t0078 a0001c0020t0016 a0001c0025t0003 a0001c0026t0006 a0001c0068t0015 a0001c0079t0072 a0002c0022t0036 a0002c0035t0047 a0002c0060t0006 a0002c0070t0046 a0002c0091t0002 a0002c0092t0001 a0003c0014t0055 a0004c0099t0014 a0005c0107t0068 a0010c0112t0081 a0017c0106t0012 a0020c0024t0077 a0025c0096t0067 a0027c0023t0001 a0035c0098t0025 a0036c0100t0017	a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0007t0032g0033 others(22): Show a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0007t0032g0033 a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0025t0003g0077 a0001c0026t0006g0093 a0001c0068t0015g0049 a0001c0079t0072g0113 a0002c0022t0036g0048 a0002c0035t0047g0076 a0002c0060t0006g0094 a0002c0070t0046g0092 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0014t0055g0056 a0004c0099t0014g0020 a0005c0107t0068g0073 a0010c0112t0081g0090 a0017c0106t0012g0042 a0020c0024t0077g0104 a0025c0096t0067g0116 a0027c0023t0001g0052 a0035c0098t0025g0019 a0036c0100t0017g0121	25	126	0.1984	43	c.156 others(64): Show c.1561+20310_1561+20311insCCCTCCCTCCCTCTCTCCCTCCCT CCCTTTCTTCCTTCCTTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448401	A A	AGGAAGGA others(36): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGAGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00735.hp1 others(53): Show HG00438.hp1 HG00438.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG02055.hp1 HG02056.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0004 others(18): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0012 a0015 a0016 a0019 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0031 a0038 a0039	a0001c0001 a0001c0002 a0001c0005 others(51): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0021 a0001c0033 a0001c0039 a0001c0040 a0001c0049 a0001c0059 a0001c0061 a0001c0071 a0001c0081 a0001c0085 a0001c0090 a0001c0093 a0001c0094 a0001c0102 a0001c0111 a0001c0115 a0002c0012 a0002c0030 a0002c0031 a0002c0036 a0002c0048 a0002c0051 a0002c0054 a0002c0072 a0002c0075 a0002c0078 a0004c0056 a0004c0086 a0005c0064 a0005c0065 a0006c0083 a0006c0116 a0007c0029 a0007c0088 a0008c0008 a0012c0104 a0015c0062 a0016c0063 a0019c0018 a0021c0016 a0022c0013 a0023c0095 a0024c0038 a0026c0082 a0029c0028 a0030c0052 a0031c0069 a0038c0066 a0039c0009	a0001c0001t0002 a0001c0001t0039 a0001c0002t0061 others(52): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0061 a0001c0005t0002 a0001c0006t0002 a0001c0007t0001 a0001c0021t0005 a0001c0033t0003 a0001c0039t0066 a0001c0040t0019 a0001c0049t0002 a0001c0059t0001 a0001c0061t0001 a0001c0071t0069 a0001c0081t0037 a0001c0085t0020 a0001c0090t0001 a0001c0093t0009 a0001c0094t0002 a0001c0102t0005 a0001c0111t0045 a0001c0115t0042 a0002c0012t0017 a0002c0030t0016 a0002c0031t0015 a0002c0036t0029 a0002c0048t0013 a0002c0051t0006 a0002c0054t0079 a0002c0072t0003 a0002c0075t0026 a0002c0078t0044 a0004c0056t0062 a0004c0086t0002 a0005c0064t0051 a0005c0065t0023 a0006c0083t0004 a0006c0116t0004 a0007c0029t0011 a0007c0088t0076 a0008c0008t0082 a0012c0104t0071 a0015c0062t0056 a0016c0063t0010 a0019c0018t0058 a0021c0016t0048 a0022c0013t0007 a0023c0095t0002 a0024c0038t0075 a0026c0082t0052 a0029c0028t0024 a0030c0052t0049 a0031c0069t0043 a0038c0066t0010 a0039c0009t0001	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(53): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0061g0069 a0001c0005t0002g0111 a0001c0006t0002g0109 a0001c0007t0001g0035 a0001c0021t0005g0012 a0001c0033t0003g0059 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0071t0069g0115 a0001c0081t0037g0030 a0001c0085t0020g0060 a0001c0090t0001g0027 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0111t0045g0063 a0001c0115t0042g0055 a0002c0012t0017g0088 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0036t0029g0009 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0072t0003g0066 a0002c0075t0026g0051 a0002c0078t0044g0064 a0004c0056t0062g0072 a0004c0086t0002g0118 a0005c0064t0051g0078 a0005c0065t0023g0050 a0006c0083t0004g0006 a0006c0116t0004g0039 a0007c0029t0011g0054 a0007c0088t0076g0057 a0008c0008t0082g0126 a0012c0104t0071g0058 a0015c0062t0056g0062 a0016c0063t0010g0045 a0019c0018t0058g0068 a0021c0016t0048g0106 a0022c0013t0007g0112 a0023c0095t0002g0124 a0024c0038t0075g0067 a0026c0082t0052g0097 a0029c0028t0024g0040 a0030c0052t0049g0098 a0031c0069t0043g0100 a0038c0066t0010g0032 a0039c0009t0001g0002	56	126	0.4444	43	c.156 others(64): Show c.1561+20310_1561+20311insCCCTCCCTCCCTCTCTCCCTCCCT CCCTTCCTTCCTTCCTTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558395	T T	TCCTCCAA others(36): Show TCCTCCAATGATGAATGGTGCCTCAATGGTACCCCGTGTCCACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0064 a0005c0064	a0005c0064t0051 a0005c0064t0051	a0005c0064t0051g0078 a0005c0064t0051g0078	1	126	0.0079	43	c.134 others(64): Show c.1344+16549_1344+16550insGGTGGACACGGGGTACCATTGAGG CACCATTCATCATTGGAGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558544	T T	TCTCAATG others(36): Show TCTCAATGGTACCCCGTGTCCACTCCTCCAATGATGAATAGTGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02486.hp1 HG01071.hp2 HG02486.hp1	a0001 a0037 a0001 a0037	a0001c0047 a0037c0101 a0001c0047 a0037c0101	a0001c0047t0014 a0037c0101t0008 a0001c0047t0014 a0037c0101t0008	a0001c0047t0014g0024 a0037c0101t0008g0023 a0001c0047t0014g0024 a0037c0101t0008g0023	2	126	0.0159	43	c.134 others(64): Show c.1344+16400_1344+16401insGCACTATTCATCATTGGAGGAGTG GACACGGGGTACCATTGAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542692	A A	ATATGTAT others(36): Show ATATGTATATATATATATATATATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0347 a0001c0001t0054g0347	1	390	0.0026	43	c.230 others(60): Show c.230+7382_230+7383insATATATATATATACATATATATATATAT ATATATATATACATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1D_chr17_82237667_82278700	82260504	C C	CTGATGGT others(36): Show CTGATGGTGTACTGAGTGATGTGACTGATGGTGTACTGAGTGAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	320	0.0031	43	c.188 others(60): Show c.188-4970_188-4928dupATCACTCAGTACACCATCAGTCACATCA CTCAGTACACCATCA	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8			chr17	TogoVar
CSPP1_chr8_67059392_67201614	67159956	T T	TTTCTTTT others(36): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0093 a0001c0012t0001g0093	1	158	0.0063	43	c.253 others(60): Show c.2538+819_2538+820insTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTC	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30			chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165667052	A A	AAGGAAGG others(36): Show AAGGAAGGAAGGAAGGAAAGAGAGAGAGGAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00639.hp2 others(74): Show HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG01099.hp1 HG01167.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19066.hp2 NA19080.hp1 NA19085.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0004c0011 a0005c0008 a0006c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(39): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0064 a0001c0001t0066 a0001c0001t0070 a0001c0001t0072 a0001c0001t0075 a0001c0001t0078 a0001c0001t0081 a0001c0001t0083 a0001c0001t0090 a0001c0002t0001 a0001c0002t0008 a0001c0002t0014 a0001c0002t0017 a0001c0002t0019 a0001c0002t0043 a0001c0002t0082 a0001c0002t0093 a0001c0002t0095 a0001c0002t0096 a0001c0004t0016 a0001c0004t0073 a0002c0003t0010 a0002c0003t0098 a0004c0011t0027 a0005c0008t0004 a0006c0009t0094	a0001c0001t0002g0149 a0001c0001t0002g0187 a0001c0001t0002g0230 others(74): Show a0001c0001t0002g0149 a0001c0001t0002g0187 a0001c0001t0002g0230 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0065 a0001c0001t0003g0240 a0001c0001t0004g0017 a0001c0001t0004g0022 a0001c0001t0004g0135 a0001c0001t0004g0145 a0001c0001t0004g0147 a0001c0001t0004g0164 a0001c0001t0004g0171 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0221 a0001c0001t0009g0072 a0001c0001t0009g0212 a0001c0001t0011g0235 a0001c0001t0020g0019 a0001c0001t0022g0078 a0001c0001t0022g0194 a0001c0001t0022g0213 a0001c0001t0023g0167 a0001c0001t0024g0034 a0001c0001t0024g0153 a0001c0001t0025g0204 a0001c0001t0026g0197 a0001c0001t0026g0198 a0001c0001t0027g0172 a0001c0001t0029g0126 a0001c0001t0047g0214 a0001c0001t0048g0081 a0001c0001t0051g0046 a0001c0001t0064g0110 a0001c0001t0066g0125 a0001c0001t0070g0161 a0001c0001t0072g0116 a0001c0001t0075g0156 a0001c0001t0078g0206 a0001c0001t0081g0237 a0001c0001t0083g0075 a0001c0001t0090g0069 a0001c0002t0001g0103 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0008g0155 a0001c0002t0014g0095 a0001c0002t0014g0190 a0001c0002t0014g0236 a0001c0002t0014g0238 a0001c0002t0017g0049 a0001c0002t0017g0057 a0001c0002t0017g0189 a0001c0002t0017g0195 a0001c0002t0019g0083 a0001c0002t0043g0033 a0001c0002t0082g0199 a0001c0002t0093g0082 a0001c0002t0095g0242 a0001c0002t0096g0096 a0001c0004t0016g0084 a0001c0004t0016g0085 a0001c0004t0016g0173 a0001c0004t0016g0174 a0001c0004t0073g0244 a0002c0003t0010g0092 a0002c0003t0010g0094 a0002c0003t0010g0191 a0002c0003t0098g0099 a0004c0011t0027g0158 a0005c0008t0004g0157 a0006c0009t0094g0241	77	246	0.3130	43	c.408 others(60): Show c.408+9059_408+9060insGAAGAAAGAAAGAGAGAGGAAGGAAGGA AGGAAAGAGAGAGAG	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490339	T T	TTATATAT others(36): Show TTATATATATATTAATTATATATATATAAAATATATATAAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	440	0.0023	43	c.-11 others(54): Show c.-1147_-1146insTATATATATATTAATTATATATATATAAAATATA TATAAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		777		chr20	TogoVar
CST8_chr20_23486117_23501010	23490374	T T	TTATATAT others(36): Show TTATATATATATTAATTATATATATATAAAATATATATAAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02818.hp2 HG03130.hp2 HG02258.hp1 HG02818.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	3	440	0.0068	43	c.-11 others(54): Show c.-1112_-1111insTATATATATATTAATTATATATATATAAAATATA TATAAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		742		chr20	TogoVar
CTDP1_chr18_79674803_79759503	79728698	G G	GTGTTTTG others(36): Show GTGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(117): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02280.hp2 HG02523.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0012 a0014 a0015 a0017	a0001c0001 a0001c0035 a0002c0002 others(9): Show a0001c0001 a0001c0035 a0002c0002 a0003c0005 a0003c0009 a0003c0012 a0003c0023 a0004c0004 a0012c0033 a0014c0034 a0015c0031 a0017c0040	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0035t0002 a0002c0002t0001 a0003c0005t0002 a0003c0009t0002 a0003c0012t0002 a0003c0023t0003 a0004c0004t0001 a0012c0033t0002 a0014c0034t0002 a0015c0031t0004 a0017c0040t0001	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 others(116): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0206 a0001c0001t0002g0339 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0150 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0008g0101 a0001c0035t0002g0002 a0002c0002t0001g0090 a0003c0005t0002g0005 a0003c0005t0002g0006 a0003c0005t0002g0007 a0003c0005t0002g0008 a0003c0005t0002g0099 a0003c0005t0002g0102 a0003c0005t0002g0103 a0003c0005t0002g0104 a0003c0005t0002g0110 a0003c0005t0002g0111 a0003c0005t0002g0112 a0003c0005t0002g0113 a0003c0005t0002g0114 a0003c0005t0002g0118 a0003c0005t0002g0119 a0003c0005t0002g0120 a0003c0005t0002g0121 a0003c0005t0002g0123 a0003c0005t0002g0125 a0003c0005t0002g0126 a0003c0005t0002g0127 a0003c0005t0002g0128 a0003c0005t0002g0129 a0003c0005t0002g0130 a0003c0005t0002g0133 a0003c0005t0002g0134 a0003c0009t0002g0108 a0003c0009t0002g0109 a0003c0009t0002g0115 a0003c0009t0002g0116 a0003c0009t0002g0117 a0003c0009t0002g0124 a0003c0012t0002g0105 a0003c0012t0002g0106 a0003c0012t0002g0107 a0003c0023t0003g0361 a0004c0004t0001g0320 a0012c0033t0002g0146 a0014c0034t0002g0122 a0015c0031t0004g0196 a0017c0040t0001g0256	120	378	0.3175	43	c.241 others(60): Show c.2418-207_2418-165dupGTTTTGCCAGTCACCCTGGCTCAGTTAG CAAATTCTGATCCAT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNND2_chr5_10966836_11909446	11129279	T T	TATATAAA others(36): Show TATATAAAAATATATAATATATATTATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	26	0.0385	43	c.216 others(64): Show c.2160-11755_2160-11713dupTATATATATTTATATATATAATAT ATATTATATATTTTTATAT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11129311	T T	TAAATATA others(36): Show TAAATATATATAATATAAAAATATATAATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	26	0.0385	43	c.216 others(64): Show c.2160-11745_2160-11744insTTATATATAATATATATTATATAT TTTTATATTATATATATTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11144040	G G	GCACCAGC others(36): Show GCACCAGCTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0018 a0001c0001t0001g0022	2	26	0.0769	43	c.215 others(64): Show c.2159+15535_2159+15536insTAGACCTGGGGACTGCCCCTATGG TAGAAACCCCTAGCTGGTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11144126	G G	GCACCAGC others(36): Show GCACCAGCTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03209.hp2 HG03225.hp1 others(1): Show HG02922.hp1 HG03209.hp2 HG03225.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0002t0001g0001 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0002t0001g0001 a0001c0009t0001g0008	4	26	0.1539	43	c.215 others(64): Show c.2159+15449_2159+15450insTAGACCTGGGGACTGCCCCTATGG TAGAAACCCCTAGCTGGTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3641385	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	372	0.0054	43	c.61+ others(58): Show c.61+1118_61+1119insATATATATATATATATATATATATATATAT ATATATATATATA	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11			chr17	TogoVar
CTXND1_chr15_80190481_80257213	80205961	G G	GAAAGAAA others(36): Show GAAAGAAAATTTGAAAGAAGAAGTCAAAGAGGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp1 HG02615.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0080 a0001c0003t0035 a0001c0001t0080 a0001c0003t0035	a0001c0001t0080g0340 a0001c0003t0035g0122 a0001c0001t0080g0340 a0001c0003t0035g0122	2	396	0.0051	43	c.-21 others(62): Show c.-217-2222_-217-2221insTTTTTTTTTTTTCCTCTTTGACTTCT TCTTTCAAATTTTCTTT	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2			chr15	TogoVar
CUL4A_chr13_113204613_113272108	113260203	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	396	0.0025	43	c.203 others(60): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113262779	A A	ACTTATAC others(36): Show ACTTATACGTGCCCTTACTGATGGCAGATGTCGGGTCTGCCTCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0100 a0001c0011t0001g0100	1	396	0.0025	43	c.218 others(60): Show c.2185-693_2185-692insACTGATGGCAGATGTCGGGTCTGCCTCG CTTATACGTGCCCTT	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113262779	A A	ACTTATAC others(36): Show ACTTATACGTGCTCTTACTGATGGCAGATGTCGGGTCTGCCTCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02809.hp2 others(6): Show HG02280.hp2 HG02451.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0001t0012 a0001c0003t0007 a0001c0001t0007 a0001c0001t0012 a0001c0003t0007	a0001c0001t0007g0368 a0001c0001t0007g0369 a0001c0001t0012g0017 others(6): Show a0001c0001t0007g0368 a0001c0001t0007g0369 a0001c0001t0012g0017 a0001c0001t0012g0099 a0001c0001t0012g0189 a0001c0003t0007g0370 a0001c0003t0007g0371 a0001c0003t0007g0372 a0001c0003t0007g0373	9	396	0.0227	43	c.218 others(60): Show c.2185-697_2185-696insTCTTACTGATGGCAGATGTCGGGTCTGC CTCGCTTATACGTGC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113262779	A A	ACTTATAC others(36): Show ACTTATACGTGCTCTTACTGATGGCAGATGTTGGGTCTGCCTCG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19057.hp2 NA18998.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0120 a0001c0001t0002g0109 a0001c0001t0002g0120	2	396	0.0051	43	c.218 others(60): Show c.2185-697_2185-696insTCTTACTGATGGCAGATGTTGGGTCTGC CTCGCTTATACGTGC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYB5R3_chr22_42612840_42654392	42643443	G G	GCCCCCCC others(36): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0147 a0001c0001t0025g0147	1	360	0.0028	43	c.21+ others(58): Show c.21+5851_21+5852insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGG	CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding	1/8			chr22	TogoVar
CYLC1_chrX_83856146_83891698	83878350	A A	AATATATA others(36): Show AATATATATAAATATATATAAATATATATAAATATATATATAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	208	0.0048	43	c.192 others(62): Show c.1923+3748_1923+3749insAATATATATATAATATATATATAAAT ATATATAAATATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 2299 hits)