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
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGGG others(18): Show AGAGAGGGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	378	0.0027	25	c.-33 others(34): Show c.-336_-335insGAGAGGGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPNE2_chr16_57087583_57153369	57149838	C C	CTTGTCTA others(18): Show CTTGTCTAAACTCTTGTCTAAAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG03209.hp1 others(1): Show HG02258.hp2 HG02717.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0016 a0001c0001t0001g0248 a0001c0001t0001g0250	4	362	0.0111	25	c.21 others(36): Show c.2180_*2181insTTGTCTAAACTCTTGTCTAAAGAGT	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding		1470		chr16	TogoVar
CPNE4_chr3_131528569_132040014	131955410	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	94	0.0106	25	c.-1- others(42): Show c.-1-49967_-1-49966insAAAAAAAAAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978092	T T	TATATATT others(18): Show TATATATTTATATAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0081 a0001c0004t0002g0081	1	94	0.0106	25	c.-2+ others(42): Show c.-2+56474_-2+56475insTTTATATATATTTATATAAATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587808	C C	CCCCCGTG others(18): Show CCCCCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0219 a0001c0002t0010g0219	1	348	0.0029	25	c.927 others(40): Show c.927+710_927+711insGTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587808	C C	CCCCCGTG others(18): Show CCCCCGTGTCAGCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0151 a0001c0002t0004g0151	1	348	0.0029	25	c.927 others(40): Show c.927+710_927+711insGTGTCAGCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587872	C C	CCCCCGTG others(18): Show CCCCCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0338 a0001c0002t0002g0338	1	348	0.0029	25	c.927 others(40): Show c.927+774_927+775insGTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588000	C C	CCCCCGTG others(18): Show CCCCCGTGTCAGCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0306 a0002c0003t0004g0306	1	348	0.0029	25	c.928 others(40): Show c.928-671_928-670insGTGTCAGCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38736234	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0322 a0001c0001t0005g0322	1	342	0.0029	25	c.723 others(42): Show c.723-5877_723-5876insCACACACACACACACACACACACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902395	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	342	0.0029	25	c.98+ others(40): Show c.98+3041_98+3042insTCTTTCTTTCTTTCTTTCTTTCTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPQ_chr8_96640242_97148501	96854530	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18990.hp1 HG01081.hp2 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0095 a0001c0002t0001g0069 a0001c0002t0001g0095	2	126	0.0159	25	c.641 others(44): Show c.641+19355_641+19379dupAAAAAAAAAAAAAAAAAAAAAAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0091 a0001c0003t0002g0091	1	364	0.0028	25	c.103 others(42): Show c.103+1490_103+1491insATATATATATATATATATATATATT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0093 a0001c0003t0002g0093	1	364	0.0028	25	c.103 others(42): Show c.103+1490_103+1491insATATATATATATATATATATTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	364	0.0028	25	c.103 others(42): Show c.103+1490_103+1491insATATATATATTTTTTTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440706	A A	ACAACTTT others(18): Show ACAACTTTACATGGTGATAGTTCTGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	364	0.0028	25	c.103 others(42): Show c.103+1522_103+1546dupCAACTTTACATGGTGATAGTTCTGT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99446771	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0084 a0001c0003t0002g0084	1	364	0.0028	25	c.155 others(42): Show c.155-1337_155-1313dupTTTTTTTTTTTTTTTTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69249152	C C	CGGTGGGG others(18): Show CGGTGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0150 a0001c0002t0025g0150	1	392	0.0026	25	c.61- others(40): Show c.61-1975_61-1974insTGGGGGGGGGGGGGGGGGGGGGGGG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
CPSF7_chr11_61397729_61434975	61434591	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	190	0.0053	25	c.-47 others(36): Show c.-4734_-4733insAAAAAAAAAAAAAAAAAAAAAAAAA	CPSF7	ENSG00000149532.16	transcript	ENST00000439958.8	protein_coding		4617		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68792073	T T	TAGGCAAC others(18): Show TAGGCAACGATCGTACTGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	236	0.0042	25	c.967 others(42): Show c.967+1241_967+1242insCCCCCAGACAGTACGATCGTTGCCT	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	9/18			chr11	TogoVar
CPT1A_chr11_68749883_68846916	68803712	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03579.hp1 HG02015.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0040 a0001c0002t0002g0139 a0001c0002t0001g0040 a0001c0002t0002g0139	2	236	0.0085	25	c.555 others(40): Show c.555+263_555+287dupATTTTATTTTATTTTATTTTATTTT	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	5/18			chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838572	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02622.hp2 NA19007.hp1 HG02135.hp2 HG02622.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0005 a0001c0001t0001 a0001c0008t0005	a0001c0001t0001g0022 a0001c0001t0001g0162 a0001c0008t0005g0161 a0001c0001t0001g0022 a0001c0001t0001g0162 a0001c0008t0005g0161	3	236	0.0127	25	c.-14 others(42): Show c.-14+3202_-14+3203insTTTTTTTTTTTTTTTTTTTTTTTTT	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(18): Show ACCCTCCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0080 a0001c0017t0001g0080	1	288	0.0035	25	c.305 others(40): Show c.305-917_305-916insAAGGGGAGGGGAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123881232	T T	TCTTCCCT others(18): Show TCTTCCCTTCCCTTCCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp2 HG02155.hp2 others(1): Show HG02027.hp2 HG02129.hp2 HG02155.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0011 a0001c0031 a0001c0004 a0001c0011 a0001c0031	a0001c0004t0001 a0001c0011t0001 a0001c0011t0002 others(1): Show a0001c0004t0001 a0001c0011t0001 a0001c0011t0002 a0001c0031t0006	a0001c0004t0001g0211 a0001c0011t0001g0210 a0001c0011t0002g0209 others(1): Show a0001c0004t0001g0211 a0001c0011t0001g0210 a0001c0011t0002g0209 a0001c0031t0006g0193	4	288	0.0139	25	c.305 others(40): Show c.305-948_305-924dupGGAAGGGAAGGGAAGGGAAGGGAAG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CR1L_chr1_207640133_207728703	207683010	T T	TTCTTTTT others(18): Show TTCTTTTTCTTTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0311 a0004c0004t0001g0311	1	346	0.0029	25	c.378 others(40): Show c.378-861_378-860insCTTTTTCTTTTTTTTCTTTCTTTCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	316	0.0032	25	c.275 others(42): Show c.2750-407_2750-406insAAAAAAAAAAAAAAAAATATATATA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18979.hp1 NA18968.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0312 a0001c0001t0001g0218 a0001c0001t0001g0312	2	316	0.0063	25	c.275 others(42): Show c.2750-407_2750-406insAAAAAAAAAAAAAAAAAAATATATA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATATATTT others(18): Show ATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18957.hp2 NA18989.hp1 HG01993.hp2 NA18957.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0229 a0001c0001t0001g0241 a0001c0001t0001g0248	3	316	0.0095	25	c.275 others(42): Show c.2750-407_2750-406insAAAAAAAAAAAAAAAAAAAAATATA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98891376	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	316	0.0032	25	c.-11 others(44): Show c.-11+44537_-11+44561dupTTTTTTTTTTTTTTTTTTTTTTTTT	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRACD_chr4_56044098_56335609	56183235	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp2 HG01255.hp1 others(9): Show HG01081.hp2 HG01192.hp2 HG01255.hp1 HG02602.hp1 HG02698.hp2 HG02735.hp2 HG03139.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 NA18971.hp1 NA19091.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0008	a0002c0003 a0003c0002 a0004c0004 others(1): Show a0002c0003 a0003c0002 a0004c0004 a0008c0010	a0002c0003t0001 a0002c0003t0025 a0003c0002t0002 others(2): Show a0002c0003t0001 a0002c0003t0025 a0003c0002t0002 a0004c0004t0004 a0008c0010t0008	a0002c0003t0001g0110 a0002c0003t0001g0124 a0002c0003t0001g0165 others(9): Show a0002c0003t0001g0110 a0002c0003t0001g0124 a0002c0003t0001g0165 a0002c0003t0025g0219 a0003c0002t0002g0078 a0003c0002t0002g0101 a0003c0002t0002g0103 a0003c0002t0002g0106 a0003c0002t0002g0111 a0004c0004t0004g0120 a0004c0004t0004g0192 a0008c0010t0008g0226	12	250	0.0480	25	c.-18 others(44): Show c.-189+3835_-189+3859dupTAAAATAAAATAAAATAAAATAAAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3621648	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01433.hp1 NA20805.hp1 HG00438.hp1 HG01433.hp1 NA20805.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0006c0006t0001 a0002c0002t0001 a0006c0006t0001	a0002c0002t0001g0144 a0002c0002t0001g0217 a0006c0006t0001g0126 a0002c0002t0001g0144 a0002c0002t0001g0217 a0006c0006t0001g0126	3	320	0.0094	25	c.193 others(44): Show c.1933-2301_1933-2277dupTTTTTTTTTTTTTTTTTTTTTTTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	17/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3639457	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01975.hp1 NA18940.hp1 others(1): Show HG01346.hp2 HG01975.hp1 NA18940.hp1 NA18964.hp1	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0002c0002 a0022c0028 a0001c0001 a0002c0002 a0022c0028	a0001c0001t0001 a0002c0002t0001 a0022c0028t0001 a0001c0001t0001 a0002c0002t0001 a0022c0028t0001	a0001c0001t0001g0170 a0001c0001t0001g0288 a0002c0002t0001g0165 others(1): Show a0001c0001t0001g0170 a0001c0001t0001g0288 a0002c0002t0001g0165 a0022c0028t0001g0254	4	320	0.0125	25	c.127 others(44): Show c.1272-1004_1272-1003insGTGTGTGTGTGTGTGTGTGTGTGTG	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	13/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3643848	T T	TTAATATT others(18): Show TTAATATTATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0280 a0002c0002t0001g0280	1	320	0.0031	25	c.116 others(42): Show c.1164+746_1164+747insTTATATATATTTATATATAATATTA	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	12/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745780	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp1 others(22): Show HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01515.hp1 HG01517.hp2 HG02257.hp1 HG02300.hp1 HG02896.hp2 HG03139.hp2 HG03491.hp2 HG03927.hp2 HG03942.hp2 NA18951.hp2 NA18965.hp1 NA18965.hp2 NA18973.hp2 NA18994.hp2 NA19005.hp2 NA19012.hp2 NA19057.hp1 NA19074.hp2 NA19077.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0017	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0017c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001 a0004c0004t0001 a0017c0013t0001	a0001c0001t0001g0033 a0001c0001t0001g0073 a0001c0001t0001g0172 others(22): Show a0001c0001t0001g0033 a0001c0001t0001g0073 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0268 a0001c0001t0001g0284 a0001c0001t0002g0051 a0001c0001t0003g0023 a0001c0001t0003g0024 a0003c0003t0001g0140 a0003c0003t0001g0141 a0004c0004t0001g0181 a0017c0013t0001g0063	25	320	0.0781	25	c.-38 others(44): Show c.-387+7210_-387+7234dupATTTTATTTTATTTTATTTTATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRB1_chr1_197263252_197483455	197354834	C C	CCCGCCCC others(18): Show CCCGCCCCCCCCACCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	186	0.0054	25	c.989 others(42): Show c.989-1995_989-1994insGCCCCCCCCACCCCCCCCCCCCGCC	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB2_chr9_123351197_123383753	123378796	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	432	0.0023	25	c.17 others(36): Show c.1734_*1735insTTTTTTTTTTTTTTTTTTTTTTTTT	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding		44		chr9	TogoVar
CRB2_chr9_123351197_123383753	123378798	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA19063.hp2 HG02080.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0241 a0001c0002t0002g0047 a0001c0002t0002g0241	2	432	0.0046	25	c.17 others(36): Show c.1736_*1737insTTTTTTTTTTTTTTTTTTTTTTTTT	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding		46		chr9	TogoVar
CRBN_chr3_3145011_3184691	3181984	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA20905.hp2 NA19010.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	376	0.0053	25	c.-22 others(36): Show c.-2298_-2297insATATATATATATATATATATATATA	CRBN	ENSG00000113851.16	transcript	ENST00000231948.9	protein_coding		2294		chr3	TogoVar
CREB3L2_chr7_137869979_138007086	137927261	C C	CGGAAAGG others(18): Show CGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0065 a0006c0012t0065	a0006c0012t0065g0252 a0006c0012t0065g0252	1	288	0.0035	25	c.319 others(40): Show c.319+888_319+889insTTTCCTTTCCTTTCCTTTCCTTTCC	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB5_chr7_28407518_28830894	28552004	C C	CTCTTTCT others(18): Show CTCTTTCTCTCTTTTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01934.hp2 HG02258.hp1 others(5): Show HG01123.hp2 HG01934.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp2 HG02809.hp1 HG02897.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0044 a0001c0003t0031	a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0003g0029 others(5): Show a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0003g0029 a0001c0001t0003g0198 a0001c0001t0009g0181 a0001c0001t0011g0003 a0001c0001t0044g0173 a0001c0003t0031g0160	8	198	0.0404	25	c.292 others(44): Show c.292-18358_292-18357insTTCTCTCTTTTCTCTCTCTCTTTCT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28811567	T T	TATTATCT others(18): Show TATTATCTTGCCCAGGCTGGTCTCAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	198	0.0051	25	c.125 others(44): Show c.1254+2155_1254+2179dupTTATCTTGCCCAGGCTGGTCTCAAA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3849404	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0145 a0001c0003t0002g0145	1	286	0.0035	25	c.798 others(40): Show c.798+868_798+892dupCACACACACACACACACACACACAC	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849432	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGATGTGCGTGACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0011 a0008c0022t0011	a0008c0022t0011g0248 a0008c0022t0011g0248	1	286	0.0035	25	c.798 others(40): Show c.798+864_798+865insGGTCACGCACATCACACACACACAC	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849444	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0194 a0001c0005t0001g0194	1	286	0.0035	25	c.798 others(40): Show c.798+828_798+852dupCACACACACACACACACACACACAC	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CRISPLD1_chr8_74979505_75039558	74980416	G G	GCCACCTC others(18): Show GCCACCTCAAAAAGACATATTAGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0075 a0001c0001t0020g0075	1	368	0.0027	25	c.-45 others(36): Show c.-4567_-4566insCCACCTCAAAAAGACATATTAGTGC	CRISPLD1	ENSG00000121005.9	transcript	ENST00000262207.9	protein_coding		4088		chr8	TogoVar
CRKL_chr22_20912407_20958747	20927192	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04199.hp2 HG03704.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0085 a0001c0001t0003g0086	2	370	0.0054	25	c.312 others(42): Show c.312-6569_312-6568insTTTTTTTTTTTTTTTTTTTTTTTTT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRK_chr17_1415693_1461232	1427030	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	404	0.0025	25	c.778 others(42): Show c.778-3405_778-3381dupTTTTTTTTTTTTTTTTTTTTTTTTT	CRK	ENSG00000167193.8	transcript	ENST00000300574.3	protein_coding	2/2			chr17	TogoVar
CRLF2_chrX_1185490_1217649	1207561	C C	CCAAGAAC others(18): Show CCAAGAACTGCCCCTTTTACAGAGGA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	167	0.0060	25	c.183 others(40): Show c.183-987_183-963dupTCCTCTGTAAAAGGGGCAGTTCTTG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	2/7			chrX	TogoVar
CRLF2_chrX_1185490_1217649	1212964	T T	TCCCCTCC others(18): Show TCCCCTCCATTCCCTCCCCTTTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02965.hp1 HG03453.hp1 others(1): Show HG01515.hp2 HG02965.hp1 HG03453.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0002 a0001c0003t0001 a0002c0004t0001 a0001c0002t0002 a0001c0003t0001 a0002c0004t0001	a0001c0002t0002g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 others(1): Show a0001c0002t0002g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0002c0004t0001g0017	4	167	0.0240	25	c.-33 others(34): Show c.-331_-330insGGAAAAAGGGGAGGGAATGGAGGGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		316		chrX	TogoVar
CRLS1_chr20_6001123_6045053	6011572	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	366	0.0027	25	c.444 others(42): Show c.444+1670_444+1694dupTTTTTTTTTTTTTTTTTTTTTTTTT	CRLS1	ENSG00000088766.12	transcript	ENST00000378863.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
CRMP1_chr4_5815764_5898086	5837698	A A	AAAATAAA others(18): Show AAAATAAAATAAAATAAAATAAAATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0008 a0002c0005t0006g0008	1	314	0.0032	25	c.131 others(42): Show c.1311-793_1311-792insCATTTTATTTTATTTTATTTTATTT	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	9/13			chr4	TogoVar

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