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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CFAP47_chrX_35914734_36390317	36371924	G G	GTATATAC others(23): Show GTATATACACACATGTGTATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0025 a0004c0003t0001g0025	1	216	0.0046	30	c.918 others(49): Show c.9185+4833_9185+4862dupACACACATGTGTATATGTGTGTGTAT ATAT		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18970.hp2 HG01433.hp1 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0127 a0001c0002t0001g0048 a0001c0002t0001g0127	2	316	0.0063	30	c.117 others(49): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631044	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0254 a0002c0001t0001g0254	1	316	0.0032	30	c.117 others(49): Show c.1175-1843_1175-1842insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(23): Show GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG01884.hp2 HG02109.hp2	a0002 a0002	a0002c0001 a0002c0011 a0002c0001 a0002c0011	a0002c0001t0001 a0002c0011t0001 a0002c0001t0001 a0002c0011t0001	a0002c0001t0001g0223 a0002c0011t0001g0277 a0002c0001t0001g0223 a0002c0011t0001g0277	2	316	0.0063	30	c.117 others(49): Show c.1175-1833_1175-1832insGAGAGAAAGAAAGAAAGAAAGAAAGA AAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18998.hp1 NA19006.hp2 others(1): Show NA18977.hp2 NA18998.hp1 NA19006.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0296 a0001c0002t0001g0301 others(1): Show a0001c0002t0001g0238 a0001c0002t0001g0296 a0001c0002t0001g0301 a0001c0002t0001g0311	4	316	0.0127	30	c.117 others(49): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAAAGA AAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02738.hp1 others(1): Show HG02572.hp1 HG02572.hp2 HG02738.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0021 a0001c0002t0001g0045 a0001c0002t0001g0073 others(1): Show a0001c0002t0001g0021 a0001c0002t0001g0045 a0001c0002t0001g0073 a0002c0001t0001g0028	4	316	0.0127	30	c.117 others(49): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA AAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	402	0.0025	30	c.131 others(49): Show c.1316+1273_1316+1274insATATATATATATATATATATTTTTTT TTTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	402	0.0025	30	c.131 others(49): Show c.1316+1273_1316+1274insATATATATATATATATATATATTTTT TTTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19007.hp1 NA19058.hp1 others(1): Show NA18957.hp1 NA19007.hp1 NA19058.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0259 a0002c0002t0001g0008 a0002c0002t0001g0035 a0001c0001t0001g0259 a0002c0002t0001g0008 a0002c0002t0001g0035	4	402	0.0100	30	c.131 others(49): Show c.1316+1273_1316+1274insATATATATATATATATATATATATTT TTTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02273.hp1 HG01975.hp1 HG02273.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0262 a0002c0002t0001g0135 a0001c0001t0001g0262 a0002c0002t0001g0135	2	402	0.0050	30	c.131 others(49): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT TTTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0083 a0001c0001t0001g0094	2	402	0.0050	30	c.131 others(49): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT ATTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP54_chr12_96484577_96880555	96486137	T T	TTTTCTTT others(23): Show TTTTCTTTTCTTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	268	0.0037	30	c.-34 others(41): Show c.-3473_-3472insTTTCTTTTCTTTTCTTTCTTTCTTTCTTTC		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding					3439		chr12	TogoVar
CFAP57_chr1_43167330_43259358	43180223	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0018 a0002c0012t0001g0018	1	308	0.0033	30	c.158 others(47): Show c.158-1295_158-1294insTATATATATATATATATATATATATATA TA		CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP68_chr11_111874541_111890975	111886726	A A	ATATATAT others(23): Show ATATATATATATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	30	c.28 others(41): Show c.2846_*2847insTATATATATATGTATGTATGTATATGTATG		CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding					752		chr11	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(23): Show ATATATATATATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG01167.hp2 others(15): Show HG00408.hp1 HG00609.hp2 HG01167.hp2 HG02004.hp2 HG02074.hp1 HG03654.hp2 HG03704.hp1 NA18947.hp2 NA18957.hp1 NA18968.hp1 NA18972.hp1 NA18978.hp2 NA18999.hp1 NA19064.hp2 NA19070.hp2 NA19077.hp2 NA19088.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0018 a0002c0003t0001 a0001c0001t0001 a0001c0001t0018 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0018g0001 a0002c0003t0001g0001 a0001c0001t0001g0001 a0001c0001t0018g0001 a0002c0003t0001g0001	18	392	0.0459	30	c.28 others(41): Show c.2882_*2883insTATATATATATGTATGTATGTATATGTATG		CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding					788		chr11	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(23): Show ATATATATGTATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18981.hp1 NA19010.hp2 NA18948.hp1 NA18981.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	392	0.0077	30	c.28 others(41): Show c.2882_*2883insTATATATGTATGTATGTATGTATATGTATG		CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding					788		chr11	TogoVar
CFAP70_chr10_73248762_73363864	73362980	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0006 a0003c0003t0002g0006	1	220	0.0046	30	c.-42 others(41): Show c.-4243_-4242insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding					4117		chr10	TogoVar
CFAP74_chr1_1916957_2008786	1923415	C C	CGGGCACG others(23): Show CGGGCACGTCCAGGGGGTCAGAGACTCCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00609.hp1 HG00609.hp1	a0041 a0041	a0041c0079 a0041c0079	a0041c0079t0001 a0041c0079t0001	a0041c0079t0001g0274 a0041c0079t0001g0274	1	278	0.0036	30	c.447 others(39): Show c.4473_4474insCGTGGAGTCTCTGACCCCCTGGACGTGCCC	p.Pro others(45): Show p.Pro1491_Val1492insArgGlyValSerAspProLeuAspValPro	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	36/39	4578/5355	4473/4920	1491/1639			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	322	0.0031	30	c.195 others(49): Show c.195+28076_195+28077insATATATATATATATATATATATATAT TTTT		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132482961	A A	ATAATTAT others(23): Show ATAATTATTATAAATTATTATAAATTATTAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	322	0.0031	30	c.196 others(49): Show c.196-15734_196-15733insTAATTATTATAAATTATTATAAATTA TTAT		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5						chr9	TogoVar
CFAP92_chr3_128904873_128999076	128932378	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 NA19030.hp2 HG02055.hp2 HG02258.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0321 a0002c0004t0002g0323 a0002c0004t0002g0324 a0002c0004t0002g0321 a0002c0004t0002g0323 a0002c0004t0002g0324	3	342	0.0088	30	c.275 others(47): Show c.2751+321_2751+322insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	12/15						chr3	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01361.hp1 HG01515.hp1 others(3): Show HG00438.hp2 HG01361.hp1 HG01515.hp1 HG02148.hp1 HG02717.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0206 a0001c0001t0001g0242 a0001c0001t0001g0352 others(3): Show a0001c0001t0001g0206 a0001c0001t0001g0242 a0001c0001t0001g0352 a0001c0001t0003g0363 a0001c0002t0001g0288 a0001c0002t0004g0287	6	380	0.0158	30	c.153 others(47): Show c.153-3349_153-3320dupATATATATATATATATATATATATATAT AT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02258.hp2 NA18954.hp2 others(1): Show HG00642.hp2 HG02258.hp2 NA18954.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0318 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0318 a0003c0004t0001g0093	4	380	0.0105	30	c.153 others(47): Show c.153-3352_153-3351insTTATATATATATATATATATATATATAT AT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843491	T T	TCCTCCTC others(23): Show TCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	380	0.0026	30	c.153 others(47): Show c.153-1001_153-1000insCCCCCCCTCCTCCTCCCCCCCTCCTCCT CC		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP99_chr4_2413955_2468002	2466647	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01109.hp2 others(34): Show HG00280.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03669.hp1 HG04199.hp1 NA18522.hp1 NA18964.hp1 NA18971.hp1 NA18984.hp1 NA18997.hp2 NA19009.hp2 NA19066.hp1 NA19070.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0016	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0018 a0002c0001 a0003c0007 a0003c0016 a0005c0009 a0007c0014 a0016c0036	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(9): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0018t0001 a0002c0001t0001 a0003c0007t0001 a0003c0016t0001 a0005c0009t0001 a0007c0014t0001 a0016c0036t0002	a0001c0002t0001g0004 a0001c0002t0001g0095 a0001c0002t0001g0096 others(33): Show a0001c0002t0001g0004 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0310 a0001c0003t0001g0004 a0001c0003t0001g0010 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0054 a0001c0003t0001g0081 a0001c0003t0001g0110 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0293 a0001c0004t0001g0086 a0001c0004t0001g0198 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0002g0043 a0001c0006t0001g0128 a0001c0018t0001g0130 a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0282 a0003c0007t0001g0052 a0003c0007t0001g0065 a0003c0007t0001g0268 a0003c0016t0001g0068 a0005c0009t0001g0156 a0005c0009t0001g0158 a0007c0014t0001g0113 a0016c0036t0002g0035	37	350	0.1057	30	c.37 others(41): Show c.3721_*3722insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG		CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding					3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	314	0.0032	30	c.651 others(49): Show c.651-44501_651-44500insATATATATATATATATATATATATAT ATAT		CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6						chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19000.hp1 NA18942.hp2 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0073 a0001c0002t0001g0060 a0001c0002t0001g0073	2	314	0.0064	30	c.651 others(49): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATAT		CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6						chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	314	0.0032	30	c.651 others(49): Show c.651-44517_651-44516insGTGTGTATATATATATATATATATAT ATAT		CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6						chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	314	0.0032	30	c.651 others(49): Show c.651-44517_651-44516insGTGTATATATATATATATATATATAT ATAT		CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6						chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	314	0.0032	30	c.651 others(49): Show c.651-44517_651-44516insGTATATATATATATATATATATATAT ATAT		CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6						chr16	TogoVar
CFHR2_chr1_196938738_196964622	196956797	T T	TTAATATG others(23): Show TTAATATGAAGAGTAATTTTTAAATTTATTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	370	0.0027	30	c.431 others(47): Show c.431-1091_431-1062dupATATGAAGAGTAATTTTTAAATTTATTC TA		CFHR2	ENSG00000080910.14	transcript	ENST00000367415.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772694	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	261	0.0038	30	c.-21 others(41): Show c.-2193_-2192insTATATATATATATATATATATATATATATA		CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding					2145		chr1	TogoVar
CFHR5_chr1_196972556_197014678	196999682	A A	AGTATATA others(23): Show AGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	356	0.0028	30	c.114 others(49): Show c.1147+1379_1147+1408dupGTATATATATATATATATATATATAT ATAT		CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0239 a0001c0001t0001g0240	2	308	0.0065	30	c.151 others(47): Show c.1519+752_1519+753insTATATAGAGAGAGAGAGAGAGAGAGAGA GA		CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	308	0.0033	30	c.151 others(47): Show c.1519+752_1519+753insTATATATAGAGAGAGAGAGAGAGAGAGA GA		CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	308	0.0033	30	c.151 others(47): Show c.1519+752_1519+753insTATATATATAGAGAGAGAGAGAGAGAGA GA		CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	308	0.0033	30	c.151 others(47): Show c.1519+752_1519+753insTATATATATATATAGAGAGAGAGAGAGA GA		CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(23): Show TAATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02280.hp2 HG02615.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0011 a0001c0002 a0009c0011	a0001c0002t0001 a0009c0011t0001 a0001c0002t0001 a0009c0011t0001	a0001c0002t0001g0136 a0009c0011t0001g0113 a0001c0002t0001g0136 a0009c0011t0001g0113	2	354	0.0057	30	c.58- others(47): Show c.58-16988_58-16987insTATATATATATATATATATATATATATA TT		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12						chr4	TogoVar
CFLAR_chr2_201111164_201181687	201173669	G G	GTTATTTT others(23): Show GTTATTTTATTTTATTTTATTTTATTTTATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02630.hp1 others(6): Show HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0033 a0001c0001t0070 others(1): Show a0001c0001t0009 a0001c0001t0033 a0001c0001t0070 a0001c0001t0131	a0001c0001t0009g0008 a0001c0001t0009g0047 a0001c0001t0009g0050 others(5): Show a0001c0001t0009g0008 a0001c0001t0009g0047 a0001c0001t0009g0050 a0001c0001t0009g0052 a0001c0001t0033g0048 a0001c0001t0033g0049 a0001c0001t0070g0158 a0001c0001t0131g0060	9	234	0.0385	30	c.97 others(41): Show c.9713_*9714insATTTTATTTTATTTTATTTTATTTTATTTT		CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	10/10				9714	INFO_REALIGN_3_PRIME	chr2	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01934.hp1 HG03225.hp1 others(3): Show HG01358.hp2 HG01934.hp1 HG03225.hp1 HG03540.hp1 HG03710.hp1 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0037 a0004c0004t0002	a0001c0001t0001g0139 a0001c0001t0002g0032 a0001c0001t0002g0256 others(3): Show a0001c0001t0001g0139 a0001c0001t0002g0032 a0001c0001t0002g0256 a0002c0002t0003g0241 a0002c0002t0037g0161 a0004c0004t0002g0283	6	294	0.0204	30	c.-16 others(49): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(23): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18971.hp2 HG01975.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0008 a0001c0005 a0002c0008	a0001c0005t0001 a0002c0008t0003 a0001c0005t0001 a0002c0008t0003	a0001c0005t0001g0222 a0002c0008t0003g0202 a0001c0005t0001g0222 a0002c0008t0003g0202	2	294	0.0068	30	c.169 others(47): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18						chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG01123.hp2 others(1): Show HG00323.hp1 HG00621.hp1 HG01123.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0242 a0001c0001t0001g0293 a0001c0001t0001g0294 others(1): Show a0001c0001t0001g0242 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0002t0002g0241	4	352	0.0114	30	c.-12 others(47): Show c.-12+1945_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA		CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5						chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01993.hp1 others(3): Show HG00642.hp2 HG00741.hp2 HG01993.hp1 HG03669.hp1 NA18612.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0002 a0001c0012t0002 a0001c0002t0002 a0001c0012t0002	a0001c0002t0002g0011 a0001c0002t0002g0047 a0001c0002t0002g0048 others(2): Show a0001c0002t0002g0011 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0122 a0001c0012t0002g0080	6	352	0.0171	30	c.-12 others(47): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGAGAGA GA		CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5						chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54513573	T T	TATGTTAT others(23): Show TATGTTATGTTATGTCATGTTATGTTATGTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	338	0.0030	30	c.104 others(47): Show c.104+3524_104+3525insCATGTTATGTTATGTAATGTTATGTTAT GT		CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19043.hp2 NA18952.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0265 a0001c0001t0001g0222 a0001c0001t0001g0265	2	384	0.0052	30	c.104 others(45): Show c.104-441_104-412dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0320 a0001c0003t0003g0320	1	384	0.0026	30	c.960 others(47): Show c.960+1906_960+1907insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19004.hp1 NA18944.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0164 a0001c0001t0001g0131 a0001c0001t0001g0164	2	310	0.0065	30	c.369 others(49): Show c.369+19966_369+19995dupACACACACACACACACACACACACAC ACAC		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7						chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126862588	A A	ACCACCTC others(23): Show ACCACCTCCTCCTCCACCATCACCACCTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01496.hp1 others(2): Show HG00735.hp1 HG01109.hp2 HG01496.hp1 HG03139.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 others(2): Show a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043	5	216	0.0232	30	c.495 others(47): Show c.495+9860_495+9861insACCTCCTCCTCCACCATCACCACCTCCT CC		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	418	0.0024	30	c.34 others(41): Show c.3491_*3492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding					3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0133 a0002c0002t0025g0133	1	334	0.0030	30	c.54- others(45): Show c.54-6049_54-6048insATATATATATATATATATATATATTTTTTT		CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35						chr5	TogoVar

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