JoGo: Joint Open Genome and Omics Platform

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
CPNE9_chr3_9698833_9734908	9703765	GGGGCGGG others(16): Show GGGGCGGGGGCCGCCCGCAGGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	440	0.0023	-23	c.-23 others(32): Show c.-231_-209delGGGCGGGGGCCGCCCGCAGGGCC	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding		67		chr3	TogoVar
CPQ_chr8_96640242_97148501	96771081	TATATATA others(16): Show TATATATATATTATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0045 a0006c0010t0001g0045	1	126	0.0079	-23	c.-34 others(42): Show c.-34-13771_-34-13749delATATATATATAAATATATATATT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96777742	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	126	0.0079	-23	c.-34 others(40): Show c.-34-7120_-34-7098delATATATATATATATATATTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPS1_chr2_210551599_210684107	210571856	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0029 a0003c0003t0004g0029	1	340	0.0029	-23	c.127 others(40): Show c.127-1441_127-1419delGTGTGTGTGTGTGTGTGTGTGTG	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	1/37			chr2	TogoVar
CPSF3_chr2_9418654_9478101	9425746	GTTTACAT others(16): Show GTTTACATACCATACAACTCACAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 others(105): Show HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18950.hp1 NA19004.hp1 NA19030.hp2 NA19070.hp2 NA19079.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0002c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(99): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0129 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0002t0001g0008 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0005t0001g0180 a0002c0006t0001g0027	108	230	0.4696	-23	c.50+ others(38): Show c.50+1944_50+1966delCAATTTACATACCATACAACTCA	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF4_chr7_99433943_99462373	99440651	CTGGCATA others(16): Show CTGGCATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG03516.hp1 HG02451.hp1 HG02615.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114	3	364	0.0082	-23	c.103 others(40): Show c.103+1468_103+1490delGGCATATATATATATATATATAT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1A_chr11_68749883_68846916	68791187	GCATGTCT others(16): Show GCATGTCTCAAACTTAAATGATCT	G G	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	236	0.0042	-23	c.967 others(40): Show c.967+2105_967+2127delAGATCATTTAAGTTTGAGACATG	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	9/18			chr11	TogoVar
CPVL_chr7_28990235_29151537	29123611	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp2 HG03130.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0170 a0003c0003t0001g0147 a0001c0004t0001g0170 a0003c0003t0001g0147	2	282	0.0071	-23	c.-10 others(40): Show c.-10-2563_-10-2541delATATATTTTTTTTTTTTTTTTTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPXM2_chr10_123740639_123896807	123750020	ATATTGGC others(16): Show ATATTGGCCAGGCTGGTCTTGAAC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	288	0.0035	-23	c.201 others(42): Show c.2018-3026_2018-3004delGTTCAAGACCAGCCTGGCCAATA	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	13/13			chr10	TogoVar
CP_chr3_149167497_149226829	149179830	AGGAATTT others(16): Show AGGAATTTAGTTTTAAGATGAACT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02886.hp1 others(3): Show HG02258.hp1 HG02486.hp1 HG02886.hp1 HG02970.hp1 HG03471.hp1 HG03516.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0012 a0001c0001 a0002c0002 a0007c0012	a0001c0001t0001 a0002c0002t0001 a0007c0012t0001 a0001c0001t0001 a0002c0002t0001 a0007c0012t0001	a0001c0001t0001g0274 a0002c0002t0001g0015 a0002c0002t0001g0292 others(2): Show a0001c0001t0001g0274 a0002c0002t0001g0015 a0002c0002t0001g0292 a0002c0002t0001g0303 a0007c0012t0001g0223	6	376	0.0160	-23	c.255 others(40): Show c.2555-191_2555-169delAGTTCATCTTAAAACTAAATTCC	CP	ENSG00000047457.14	transcript	ENST00000264613.11	protein_coding	14/18			chr3	TogoVar
CR1L_chr1_207640133_207728703	207648379	TTAAATCA others(16): Show TTAAATCAAGACAGGTATGAAACC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02257.hp2 HG02300.hp2 others(6): Show HG01192.hp2 HG02257.hp2 HG02300.hp2 HG02615.hp2 HG02735.hp2 HG03491.hp2 HG03492.hp1 HG03831.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0248 a0001c0001t0001g0249 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0258	9	346	0.0260	-23	c.97+ others(38): Show c.97+3052_97+3074delAATCAAGACAGGTATGAAACCTA	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197354833	CCCCCGCC others(16): Show CCCCCGCCCACCCCCCCCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0064 a0001c0002t0001g0065	2	186	0.0108	-23	c.989 others(40): Show c.989-1994_989-1972delCGCCCACCCCCCCCCCCCCGCCC	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB2_chr9_123351197_123383753	123363690	TACAAGGT others(16): Show TACAAGGTCTCGTTCAAACTGTAG	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0185 a0001c0007t0001g0185	1	432	0.0023	-23	c.418 others(38): Show c.418+503_418+525delACAAGGTCTCGTTCAAACTGTAG	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	2/12			chr9	TogoVar
CRBN_chr3_3145011_3184691	3151336	GACCACAT others(16): Show GACCACATTCTAACTTGTACTGGC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19043.hp2 HG03688.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0101 a0001c0002t0001g0117 a0001c0001t0001g0101 a0001c0002t0001g0117	2	376	0.0053	-23	c.114 others(40): Show c.1149-314_1149-292delGCCAGTACAAGTTAGAATGTGGT	CRBN	ENSG00000113851.16	transcript	ENST00000231948.9	protein_coding	10/10			chr3	TogoVar
CREB5_chr7_28407518_28830894	28657074	CAAACACA others(16): Show CAAACACACATAATCCCTCCTGAA	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	198	0.0051	-23	c.465 others(42): Show c.465-61676_465-61654delACACACATAATCCCTCCTGAAAA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28815359	CTGCATTT others(16): Show CTGCATTTTTACAGATCCTCACAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA20752.hp2 HG03834.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0133 a0001c0001t0011g0196 a0001c0001t0011g0133 a0001c0001t0011g0196	2	198	0.0101	-23	c.125 others(42): Show c.1255-2711_1255-2689delTGCATTTTTACAGATCCTCACAA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	9/10			chr7	TogoVar
CREBBP_chr16_3720054_3885713	3849423	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19043.hp1 NA18961.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0001 a0001c0028t0010 a0001c0001t0001 a0001c0028t0010	a0001c0001t0001g0017 a0001c0028t0010g0010 a0001c0001t0001g0017 a0001c0028t0010g0010	2	286	0.0070	-23	c.798 others(38): Show c.798+851_798+873delACACACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849425	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	286	0.0035	-23	c.798 others(38): Show c.798+849_798+871delACACACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849427	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18943.hp2 HG01069.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0110 a0001c0001t0001g0045 a0001c0001t0001g0110	2	286	0.0070	-23	c.798 others(38): Show c.798+847_798+869delACACACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849431	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	286	0.0035	-23	c.798 others(38): Show c.798+843_798+865delACACACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849437	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18954.hp1 NA18963.hp2 others(2): Show HG02129.hp2 NA18954.hp1 NA18963.hp2 NA18991.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0014g0154	5	286	0.0175	-23	c.798 others(38): Show c.798+837_798+859delACACACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3852035	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	286	0.0035	-23	c.86- others(38): Show c.86-1049_86-1027delTTTTTTTTTTTTTTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	1/30			chr16	TogoVar
CREBRF_chr5_173051352_173144284	173132429	TCCCCTCC others(16): Show TCCCCTCCCCTCCCCTCCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	292	0.0034	-23	c.180 others(42): Show c.1805-1175_1805-1153delCCTCCCCTCCCCTCCCCTCCCCC	CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CREBZF_chr11_85652990_85670129	85669001	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02055.hp2 HG02965.hp1 others(4): Show HG01074.hp2 HG02055.hp2 HG02965.hp1 HG03195.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0001c0001t0026 a0006c0009t0050 a0001c0001t0001 a0001c0001t0026 a0006c0009t0050	a0001c0001t0001g0000 a0001c0001t0026g0000 a0006c0009t0050g0000 a0001c0001t0001g0000 a0001c0001t0026g0000 a0006c0009t0050g0000	7	392	0.0179	-23	c.-41 others(34): Show c.-4149_-4127delTTTTTTTTTTTTTTTTTTTTTTT	CREBZF	ENSG00000137504.15	transcript	ENST00000527447.2	protein_coding		3873		chr11	TogoVar
CREG2_chr2_101340550_101392503	101341296	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	388	0.0026	-23	c.96 others(34): Show c.9604_*9626delTTTTTTTTTTTTTTTTTTTTTTT	CREG2	ENSG00000175874.10	transcript	ENST00000324768.6	protein_coding		4253		chr2	TogoVar
CREG2_chr2_101340550_101392503	101342077	GGAGGGGA others(16): Show GGAGGGGAAAATAGGTCTGACTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	388	0.0026	-23	c.88 others(34): Show c.8823_*8845delGCAGTCAGACCTATTTTCCCCTC	CREG2	ENSG00000175874.10	transcript	ENST00000324768.6	protein_coding		3472		chr2	TogoVar
CREG2_chr2_101340550_101392503	101379347	GCTGTAAA others(16): Show GCTGTAAAATATGAAGAGCTGTTC	G G	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	388	0.0026	-23	c.611 others(40): Show c.611+4163_611+4185delGAACAGCTCTTCATATTTTACAG	CREG2	ENSG00000175874.10	transcript	ENST00000324768.6	protein_coding	2/3			chr2	TogoVar
CRELD1_chr3_9928834_9950406	9940677	ACCATGGG others(16): Show ACCATGGGGAGAGGGAGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01952.hp1 HG01975.hp2 others(6): Show HG00558.hp1 HG01952.hp1 HG01975.hp2 HG02738.hp2 HG03239.hp1 NA18747.hp2 NA18967.hp1 NA18971.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0179 a0001c0001t0001g0180 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186	9	402	0.0224	-23	c.461 others(38): Show c.461-151_461-129delGGCCATGGGGAGAGGGAGAGGGA	CRELD1	ENSG00000163703.20	transcript	ENST00000452070.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CREM_chr10_35121846_35217953	35217829	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG03491.hp1 HG01169.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0028 a0001c0001t0003g0014 a0001c0001t0003g0028	2	294	0.0068	-23	c.64 others(34): Show c.6432_*6454delTTTTTTTTTTTTTTTTTTTTTTT	CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding		4877		chr10	TogoVar
CRISP2_chr6_49687359_49718543	49702139	CTATATAT others(16): Show CTATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	410	0.0024	-23	c.67- others(38): Show c.67-1378_67-1356delATATATATATATATATATATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRK_chr17_1415693_1461232	1453007	ATGAAGTG others(16): Show ATGAAGTGGGAGGATGGCTTGAGC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	404	0.0025	-23	c.241 others(40): Show c.241+2847_241+2869delGCTCAAGCCATCCTCCCACTTCA	CRK	ENSG00000167193.8	transcript	ENST00000300574.3	protein_coding	1/2			chr17	TogoVar
CRLF2_chrX_1185490_1217649	1217254	ACAAAAAT others(16): Show ACAAAAATTAGCTGGGCATGGTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0075 a0001c0007t0001g0075	1	167	0.0060	-23	c.-46 others(34): Show c.-4643_-4621delCCACCATGCCCAGCTAATTTTTG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		4606		chrX	TogoVar
CROCC2_chr2_240901336_240998311	240984527	TTCCACAC others(16): Show TTCCACACACACCCAGGCACTCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(181): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(35): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0015 a0016 a0019 a0021 a0022 a0023 a0024 a0029 a0030 a0032 a0033 a0034 a0040 a0041 a0043 a0046 a0047 a0048 a0052 a0053 a0054 a0056 a0057 a0059 a0060 a0061 a0062	a0001c0001 a0001c0022 a0001c0067 others(49): Show a0001c0001 a0001c0022 a0001c0067 a0001c0089 a0002c0002 a0002c0011 a0002c0012 a0002c0021 a0002c0033 a0002c0068 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0006c0046 a0007c0006 a0009c0010 a0010c0009 a0011c0043 a0011c0044 a0011c0045 a0011c0080 a0012c0013 a0015c0016 a0016c0061 a0016c0092 a0019c0015 a0021c0019 a0022c0038 a0022c0042 a0023c0055 a0024c0077 a0029c0049 a0030c0053 a0032c0051 a0033c0081 a0034c0083 a0040c0057 a0041c0058 a0043c0059 a0046c0069 a0047c0090 a0048c0066 a0052c0072 a0053c0037 a0054c0036 a0056c0032 a0057c0031 a0059c0030 a0060c0093 a0061c0094 a0062c0095	a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 a0001c0067t0002 a0001c0089t0001 a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0012t0002 a0002c0021t0006 a0002c0033t0002 a0002c0068t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0005c0005t0001 a0005c0005t0002 a0006c0007t0001 a0006c0007t0003 a0006c0046t0001 a0007c0006t0001 a0007c0006t0003 a0007c0006t0009 a0009c0010t0001 a0010c0009t0001 a0010c0009t0002 a0010c0009t0005 a0011c0043t0001 a0011c0044t0002 a0011c0045t0002 a0011c0080t0001 a0012c0013t0001 a0015c0016t0001 a0015c0016t0002 a0016c0061t0002 a0016c0092t0001 a0019c0015t0001 a0021c0019t0001 a0022c0038t0001 a0022c0042t0002 a0023c0055t0001 a0024c0077t0001 a0029c0049t0001 a0030c0053t0001 a0032c0051t0001 a0033c0081t0001 a0034c0083t0001 a0040c0057t0002 a0041c0058t0002 a0043c0059t0002 a0046c0069t0001 a0047c0090t0001 a0048c0066t0002 a0052c0072t0002 a0053c0037t0001 a0054c0036t0001 a0056c0032t0001 a0057c0031t0001 a0059c0030t0001 a0060c0093t0001 a0061c0094t0001 a0062c0095t0002	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0095 others(180): Show a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0288 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0022t0002g0322 a0001c0022t0002g0343 a0001c0067t0002g0287 a0001c0089t0001g0139 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0083 a0002c0002t0001g0125 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0176 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0186 a0002c0002t0002g0235 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0264 a0002c0002t0002g0268 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0316 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0002t0002g0336 a0002c0011t0002g0243 a0002c0011t0002g0297 a0002c0011t0002g0305 a0002c0011t0002g0324 a0002c0011t0002g0332 a0002c0012t0002g0250 a0002c0021t0006g0069 a0002c0021t0006g0072 a0002c0033t0002g0291 a0002c0068t0001g0078 a0003c0003t0001g0015 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0035 a0003c0003t0001g0037 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0045 a0003c0003t0001g0049 a0003c0003t0001g0137 a0003c0003t0001g0149 a0003c0003t0001g0158 a0003c0003t0002g0237 a0003c0003t0002g0255 a0003c0003t0002g0256 a0003c0003t0002g0258 a0003c0003t0002g0265 a0003c0003t0002g0272 a0003c0003t0002g0289 a0004c0004t0001g0118 a0005c0005t0001g0016 a0005c0005t0001g0017 a0005c0005t0001g0075 a0005c0005t0001g0138 a0005c0005t0002g0321 a0006c0007t0001g0093 a0006c0007t0001g0094 a0006c0007t0001g0193 a0006c0007t0001g0194 a0006c0007t0001g0195 a0006c0007t0001g0199 a0006c0007t0001g0204 a0006c0007t0001g0208 a0006c0007t0001g0215 a0006c0007t0001g0216 a0006c0007t0001g0217 a0006c0007t0001g0221 a0006c0007t0001g0224 a0006c0007t0001g0233 a0006c0007t0003g0209 a0006c0046t0001g0228 a0007c0006t0001g0013 a0007c0006t0001g0055 a0007c0006t0001g0085 a0007c0006t0001g0086 a0007c0006t0001g0088 a0007c0006t0001g0099 a0007c0006t0003g0098 a0007c0006t0009g0102 a0009c0010t0001g0115 a0009c0010t0001g0200 a0009c0010t0001g0222 a0009c0010t0001g0223 a0009c0010t0001g0230 a0010c0009t0001g0051 a0010c0009t0001g0056 a0010c0009t0001g0076 a0010c0009t0001g0087 a0010c0009t0001g0089 a0010c0009t0001g0090 a0010c0009t0001g0091 a0010c0009t0001g0092 a0010c0009t0001g0101 a0010c0009t0001g0213 a0010c0009t0001g0225 a0010c0009t0002g0005 a0010c0009t0002g0290 a0010c0009t0005g0001 a0011c0043t0001g0171 a0011c0044t0002g0317 a0011c0045t0002g0320 a0011c0080t0001g0142 a0012c0013t0001g0106 a0012c0013t0001g0121 a0012c0013t0001g0122 a0012c0013t0001g0123 a0012c0013t0001g0124 a0015c0016t0001g0070 a0015c0016t0002g0246 a0016c0061t0002g0307 a0016c0092t0001g0113 a0019c0015t0001g0014 a0019c0015t0001g0028 a0019c0015t0001g0108 a0021c0019t0001g0227 a0022c0038t0001g0050 a0022c0042t0002g0282 a0023c0055t0001g0172 a0024c0077t0001g0111 a0029c0049t0001g0198 a0030c0053t0001g0071 a0032c0051t0001g0073 a0033c0081t0001g0048 a0034c0083t0001g0136 a0040c0057t0002g0335 a0041c0058t0002g0309 a0043c0059t0002g0295 a0046c0069t0001g0187 a0047c0090t0001g0112 a0048c0066t0002g0269 a0052c0072t0002g0239 a0053c0037t0001g0205 a0054c0036t0001g0231 a0056c0032t0001g0104 a0057c0031t0001g0107 a0059c0030t0001g0025 a0060c0093t0001g0054 a0061c0094t0001g0053 a0062c0095t0002g0298	184	350	0.5257	-23	c.455 others(42): Show c.4551+1579_4551+1601delCCAGGCACTCACTCCACACACAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRPPA_chr7_16082525_16426538	16286035	AAAAATAT others(16): Show AAAAATATAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0068 a0002c0002t0068	a0002c0002t0068g0256 a0002c0002t0068g0256	1	290	0.0035	-23	c.836 others(40): Show c.836-7832_836-7810delATATATATATATATTTATATTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	5/9			chr7	TogoVar
CRTAM_chr11_122833500_122877643	122861402	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA21309.hp1 HG06807.hp1 NA21309.hp1	a0005 a0009 a0005 a0009	a0005c0010 a0009c0011 a0005c0010 a0009c0011	a0005c0010t0015 a0009c0011t0001 a0005c0010t0015 a0009c0011t0001	a0005c0010t0015g0230 a0009c0011t0001g0231 a0005c0010t0015g0230 a0009c0011t0001g0231	2	428	0.0047	-23	c.653 others(40): Show c.653-1060_653-1038delATATATATATATATATATTTTTT	CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
CRTAP_chr3_33109014_33152773	33111281	AGAGCTTA others(16): Show AGAGCTTAATCTGAATTTAGTCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0026 a0001c0003t0003g0026	1	408	0.0025	-23	c.-27 others(34): Show c.-2796_-2774delGAGCTTAATCTGAATTTAGTCAT	CRTAP	ENSG00000170275.15	transcript	ENST00000320954.11	protein_coding		2732		chr3	TogoVar
CRTC3_chr15_90524923_90650345	90533084	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	276	0.0036	-23	c.132 others(40): Show c.132+2896_132+2918delAAAAAAAAAAAAAAAAAAAAAAA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRYZ_chr1_74700486_74738050	74733043	GGCTCCAC others(16): Show GGCTCCACCCAGGATGTGCGCCTC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG01891.hp1 HG02451.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0008 a0001c0001t0007 a0002c0003t0008	a0001c0001t0007g0043 a0002c0003t0008g0044 a0001c0001t0007g0043 a0002c0003t0008g0044	2	372	0.0054	-23	c.-12 others(32): Show c.-124_-102delGAGGCGCACATCCTGGGTGGAGC	CRYZ	ENSG00000116791.14	transcript	ENST00000340866.10	protein_coding	1/9	8223		chr1	TogoVar
CSAG1_chrX_152722484_152738721	152723267	TGGACGTG others(16): Show TGGACGTGCCTTGAAAATGAACCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01168.hp1 others(12): Show HG00280.hp1 HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01358.hp1 HG02071.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02886.hp2 NA18942.hp1 NA18986.hp1 NA19030.hp2 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0004 a0003c0003t0003 a0003c0003t0004	a0003c0003t0003g0009 a0003c0003t0003g0014 a0003c0003t0003g0019 others(4): Show a0003c0003t0003g0009 a0003c0003t0003g0014 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0046 a0003c0003t0003g0050 a0003c0003t0004g0049	15	318	0.0472	-23	c.45 others(34): Show c.4504_*4526delTGGTTCATTTTCAAGGCACGTCC	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding		4216		chrX	TogoVar
CSAG1_chrX_152722484_152738721	152726266	GGCCAAGG others(16): Show GGCCAAGGCAGGGGCAGCCTCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	318	0.0031	-23	c.15 others(34): Show c.1505_*1527delGTGGAGGCTGCCCCTGCCTTGGC	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding		1217		chrX	TogoVar
CSF2RB_chr22_36908628_36945439	36920249	TTAACCTT others(16): Show TTAACCTTTTAAAGTAAAAGACAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0002 a0001c0031t0002 a0001c0001t0002 a0001c0031t0002	a0001c0001t0002g0052 a0001c0031t0002g0051 a0001c0001t0002g0052 a0001c0031t0002g0051	2	360	0.0056	-23	c.-17 others(42): Show c.-172-1780_-172-1758delTTTAAAGTAAAAGACACTAACCT	CSF2RB	ENSG00000100368.15	transcript	ENST00000403662.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667017	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0051 a0002c0003t0007g0051	1	238	0.0042	-23	c.-39 others(44): Show c.-391-65175_-391-65153delCCTTCCTTCCTTCCTTCCTTCCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667019	GGAAGGAA others(16): Show GGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0032 a0001c0002t0014g0032	1	238	0.0042	-23	c.-39 others(44): Show c.-391-65177_-391-65155delTTCCTTCCTTCCTTCCTTCCTTC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3067070	TAAGCCTG others(16): Show TAAGCCTGGGGCCTGGCACAGAAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01255.hp2 others(1): Show HG00735.hp2 HG01071.hp2 HG01255.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0047 a0001c0049 a0001c0073 others(1): Show a0001c0047 a0001c0049 a0001c0073 a0002c0012	a0001c0047t0014 a0001c0049t0002 a0001c0073t0007 others(1): Show a0001c0047t0014 a0001c0049t0002 a0001c0073t0007 a0002c0012t0017	a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0073t0007g0108 others(1): Show a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0073t0007g0108 a0002c0012t0017g0088	4	126	0.0318	-23	c.747 others(44): Show c.7475-14446_7475-14424delGTTCTGTGCCAGGCCCCAGGCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083634	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0026 a0001c0003t0013g0026	1	126	0.0079	-23	c.747 others(42): Show c.7474+3440_7474+3462delAAAAAAAAATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3136891	AAATTTTT others(16): Show AAATTTTTTTAAAAATTTTTTTCT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	126	0.0079	-23	c.624 others(42): Show c.6241+5551_6241+5573delAGAAAAAAATTTTTAAAAAAATT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3306821	AAGAGCTT others(16): Show AAGAGCTTACTTTAAAAATATTAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(84): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19074.hp1 NA19090.hp2 NA20129.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0014 a0015 a0016 a0017 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038	a0001c0001 a0001c0002 a0001c0003 others(79): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0001c0020 a0001c0025 a0001c0033 a0001c0040 a0001c0043 a0001c0046 a0001c0047 a0001c0049 a0001c0050 a0001c0061 a0001c0068 a0001c0073 a0001c0080 a0001c0081 a0001c0093 a0001c0094 a0001c0105 a0001c0108 a0001c0109 a0001c0114 a0002c0012 a0002c0022 a0002c0030 a0002c0031 a0002c0032 a0002c0035 a0002c0036 a0002c0037 a0002c0048 a0002c0051 a0002c0053 a0002c0060 a0002c0070 a0002c0072 a0002c0075 a0002c0076 a0002c0084 a0002c0089 a0002c0091 a0002c0092 a0003c0014 a0003c0034 a0003c0057 a0004c0056 a0004c0086 a0004c0087 a0004c0099 a0005c0065 a0006c0083 a0006c0116 a0007c0088 a0008c0067 a0009c0113 a0010c0112 a0014c0010 a0015c0062 a0016c0063 a0017c0106 a0022c0013 a0023c0095 a0024c0038 a0025c0096 a0026c0082 a0027c0023 a0028c0097 a0029c0028 a0031c0069 a0032c0011 a0033c0042 a0034c0055 a0035c0098 a0036c0100 a0037c0101 a0038c0066	a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 others(84): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 a0001c0003t0008 a0001c0003t0013 a0001c0003t0019 a0001c0004t0020 a0001c0004t0063 a0001c0005t0007 a0001c0006t0002 a0001c0007t0032 a0001c0017t0005 a0001c0020t0016 a0001c0025t0003 a0001c0033t0003 a0001c0040t0019 a0001c0043t0031 a0001c0046t0073 a0001c0047t0014 a0001c0049t0002 a0001c0050t0053 a0001c0061t0001 a0001c0068t0015 a0001c0073t0007 a0001c0080t0040 a0001c0081t0037 a0001c0093t0009 a0001c0094t0002 a0001c0105t0001 a0001c0108t0054 a0001c0109t0038 a0001c0114t0003 a0002c0012t0017 a0002c0022t0036 a0002c0030t0016 a0002c0031t0015 a0002c0032t0050 a0002c0035t0047 a0002c0036t0029 a0002c0037t0009 a0002c0048t0013 a0002c0051t0006 a0002c0053t0022 a0002c0060t0006 a0002c0070t0046 a0002c0072t0003 a0002c0075t0026 a0002c0076t0035 a0002c0084t0018 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0003c0014t0055 a0003c0034t0030 a0003c0057t0080 a0004c0056t0062 a0004c0086t0002 a0004c0087t0001 a0004c0099t0014 a0005c0065t0023 a0006c0083t0004 a0006c0116t0004 a0007c0088t0076 a0008c0067t0059 a0009c0113t0011 a0010c0112t0081 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0017c0106t0012 a0022c0013t0007 a0023c0095t0002 a0024c0038t0075 a0025c0096t0067 a0026c0082t0052 a0027c0023t0001 a0028c0097t0018 a0029c0028t0024 a0031c0069t0043 a0032c0011t0065 a0033c0042t0004 a0034c0055t0034 a0035c0098t0025 a0036c0100t0017 a0037c0101t0008 a0038c0066t0010	a0001c0001t0002g0102 a0001c0001t0039g0017 a0001c0002t0002g0083 others(84): Show a0001c0001t0002g0102 a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0007g0070 a0001c0006t0002g0109 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0020t0016g0065 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0050t0053g0120 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0073t0007g0108 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0105t0001g0029 a0001c0108t0054g0074 a0001c0109t0038g0013 a0001c0114t0003g0119 a0002c0012t0017g0088 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0053t0022g0041 a0002c0060t0006g0094 a0002c0070t0046g0092 a0002c0072t0003g0066 a0002c0075t0026g0051 a0002c0076t0035g0014 a0002c0084t0018g0087 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0014t0055g0056 a0003c0034t0030g0038 a0003c0057t0080g0075 a0004c0056t0062g0072 a0004c0086t0002g0118 a0004c0087t0001g0022 a0004c0099t0014g0020 a0005c0065t0023g0050 a0006c0083t0004g0006 a0006c0116t0004g0039 a0007c0088t0076g0057 a0008c0067t0059g0079 a0009c0113t0011g0043 a0010c0112t0081g0090 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0017c0106t0012g0042 a0022c0013t0007g0112 a0023c0095t0002g0124 a0024c0038t0075g0067 a0025c0096t0067g0116 a0026c0082t0052g0097 a0027c0023t0001g0052 a0028c0097t0018g0089 a0029c0028t0024g0040 a0031c0069t0043g0100 a0032c0011t0065g0101 a0033c0042t0004g0004 a0034c0055t0034g0047 a0035c0098t0025g0019 a0036c0100t0017g0121 a0037c0101t0008g0023 a0038c0066t0010g0032	87	126	0.6905	-23	c.395 others(40): Show c.3950+851_3950+873delGTAATATTTTTAAAGTAAGCTCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	25/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795142	TCTATCAT others(16): Show TCTATCATGTACAGCTATAGATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01071.hp2 others(16): Show HG00099.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01243.hp1 HG01261.hp2 HG02055.hp2 HG02723.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA19030.hp1 NA19074.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0009 a0016 a0017 a0019 a0022 a0028 a0034	a0001c0001 a0001c0003 a0001c0006 others(15): Show a0001c0001 a0001c0003 a0001c0006 a0001c0019 a0001c0047 a0002c0041 a0002c0076 a0003c0057 a0004c0087 a0005c0064 a0005c0065 a0009c0113 a0016c0063 a0017c0106 a0019c0018 a0022c0013 a0028c0097 a0034c0055	a0001c0001t0002 a0001c0003t0008 a0001c0006t0002 others(16): Show a0001c0001t0002 a0001c0003t0008 a0001c0006t0002 a0001c0006t0060 a0001c0019t0078 a0001c0047t0014 a0002c0041t0027 a0002c0076t0035 a0003c0057t0080 a0004c0087t0001 a0005c0064t0051 a0005c0065t0023 a0009c0113t0011 a0016c0063t0010 a0017c0106t0012 a0019c0018t0058 a0022c0013t0007 a0028c0097t0018 a0034c0055t0034	a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0006t0002g0109 others(16): Show a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0019t0078g0105 a0001c0047t0014g0024 a0002c0041t0027g0018 a0002c0076t0035g0014 a0003c0057t0080g0075 a0004c0087t0001g0022 a0005c0064t0051g0078 a0005c0065t0023g0050 a0009c0113t0011g0043 a0016c0063t0010g0045 a0017c0106t0012g0042 a0019c0018t0058g0068 a0022c0013t0007g0112 a0028c0097t0018g0089 a0034c0055t0034g0047	19	126	0.1508	-23	c.819 others(42): Show c.819-41123_819-41101delGTATCTATAGCTGTACATGATAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795393	GATATCTA others(16): Show GATATCTATCATAGATATAGATAT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18971.hp1 NA18984.hp1 others(1): Show HG04204.hp2 NA18971.hp1 NA18984.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0059 a0001c0109 others(1): Show a0001c0001 a0001c0059 a0001c0109 a0002c0077	a0001c0001t0002 a0001c0059t0001 a0001c0109t0038 others(1): Show a0001c0001t0002 a0001c0059t0001 a0001c0109t0038 a0002c0077t0001	a0001c0001t0002g0102 a0001c0059t0001g0036 a0001c0109t0038g0013 others(1): Show a0001c0001t0002g0102 a0001c0059t0001g0036 a0001c0109t0038g0013 a0002c0077t0001g0016	4	126	0.0318	-23	c.819 others(42): Show c.819-41374_819-41352delATATCTATATCTATGATAGATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796001	CATGTATA others(16): Show CATGTATATAGATATATATCATGT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02886.hp2 HG02074.hp2 HG02886.hp2	a0002 a0002	a0002c0078 a0002c0091 a0002c0078 a0002c0091	a0002c0078t0044 a0002c0091t0002 a0002c0078t0044 a0002c0091t0002	a0002c0078t0044g0064 a0002c0091t0002g0114 a0002c0078t0044g0064 a0002c0091t0002g0114	2	126	0.0159	-23	c.819 others(42): Show c.819-41982_819-41960delACATGATATATATCTATATACAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar

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