Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP47_chrX_35914734_36390317	36371643	T T	TATGTGTA others(21): Show TATGTGTATATATGTGTGTATATACACAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	214	0.0047	28	c.918 others(47): Show c.9185+4579_9185+4606dupATATATGTGTGTATATACACACATGT GT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371757	C C	CATGTGTG others(21): Show CATGTGTGTATATACACACATGTGTATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0029 a0029	a0029c0042 a0029c0042	a0029c0042t0001 a0029c0042t0001	a0029c0042t0001g0059 a0029c0042t0001g0059	1	205	0.0049	28	c.918 others(47): Show c.9185+4653_9185+4680dupGTATATATGTGTGTATATACACACAT GT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371842	G G	GTGTGTAT others(21): Show GTGTGTATATATGTGTGCATATACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp1 HG01943.hp1 HG01993.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0037 a0004c0003t0001g0038 a0004c0003t0001g0037 a0004c0003t0001g0038	2	214	0.0093	28	c.918 others(47): Show c.9185+4760_9185+4787dupCATATACACACATGTGTATATATGTG TG	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371946	G G	GTGTGTGT others(21): Show GTGTGTGTATATATACACACATGTGTATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0031 a0031	a0031c0058 a0031c0058	a0031c0058t0002 a0031c0058t0002	a0031c0058t0002g0212 a0031c0058t0002g0212	1	214	0.0047	28	c.918 others(47): Show c.9185+4827_9185+4854dupATATATACACACATGTGTATATGTGT GT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(21): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0183	1	169	0.0059	28	c.117 others(47): Show c.1175-1857_1175-1856insAAGAGAGAGAGAGAGAGAGAGAGAGA GA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0245 a0001c0002t0001g0245	1	169	0.0059	28	c.117 others(47): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631040	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0132 a0004c0006t0001g0132	1	274	0.0036	28	c.117 others(47): Show c.1175-1845_1175-1844insAAGAAAGAAAGAAAGAAAGAAAGAAA GA	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(21): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	78	0.0128	28	c.117 others(47): Show c.1175-1833_1175-1832insGAGAAAGAAAGAAAGAAAGAAAGAAA GA	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(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0024 a0002c0001t0001g0024	1	78	0.0128	28	c.117 others(47): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAAA GA	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(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02056.hp1 HG02056.hp2 HG01070.hp2 HG02056.hp1 HG02056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0076 a0002c0002t0001g0014 a0002c0002t0001g0110 a0001c0001t0001g0076 a0002c0002t0001g0014 a0002c0002t0001g0110	3	53	0.0566	28	c.131 others(47): Show c.1316+1273_1316+1274insATATATATATATATATATATATTTTT TT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02148.hp2 HG02922.hp1 others(6): Show HG02083.hp2 HG02148.hp2 HG02922.hp1 NA18962.hp2 NA18992.hp2 NA18995.hp1 NA19056.hp2 NA19076.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0197 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0197 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0020 a0002c0002t0001g0061 a0002c0002t0001g0115 a0002c0002t0001g0132	9	59	0.1525	28	c.131 others(47): Show c.1316+1273_1316+1274insATATATATATATATATATATATATTT TT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	51	0.0196	28	c.131 others(47): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT TT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP57_chr1_43167330_43259358	43180238	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0022 a0002c0012t0001g0022	1	303	0.0033	28	c.158 others(45): Show c.158-1295_158-1294insTATATATATATATATATATATATATAAA	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP61_chr20_20047532_20365698	20269136	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02280.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0090 a0001c0001t0003g0093	2	232	0.0086	28	c.250 others(47): Show c.2503+6007_2503+6008insCACACACACACACACACACACACACA CA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20269152	C C	CACACACA others(21): Show CACACACACACACATACATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0022 a0002c0002t0001g0023	2	230	0.0087	28	c.250 others(47): Show c.2503+6032_2503+6059dupCACATACATATATGTATATACACACA CA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(21): Show ATATATATATATATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	102	0.0098	28	c.28 others(39): Show c.2882_*2883insTATATATATATATGTATGTATATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(21): Show ATATATATATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG02109.hp2 HG02148.hp1 others(12): Show HG01981.hp2 HG02109.hp2 HG02148.hp1 HG02523.hp2 HG03239.hp1 HG03669.hp1 NA18939.hp2 NA18942.hp1 NA18950.hp1 NA18950.hp2 NA18964.hp1 NA18983.hp2 NA18997.hp2 NA19070.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0012 a0002c0003t0001 a0001c0001t0001 a0001c0001t0012 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0012g0001 a0002c0003t0001g0001 a0001c0001t0001g0001 a0001c0001t0012g0001 a0002c0003t0001g0001	15	116	0.1293	28	c.28 others(39): Show c.2882_*2883insTATATATATGTATGTATGTATATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATGT others(21): Show ATATATGTATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA19003.hp1 NA18942.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	103	0.0194	28	c.28 others(39): Show c.2882_*2883insTATATGTATGTATGTATGTATATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar
CFAP69_chr7_90240174_90316063	90250187	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0161 a0001c0002t0004g0161	1	14	0.0714	28	c.120 others(45): Show c.120+4664_120+4691dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP91_chr3_119698022_119772102	119707732	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0032 a0009c0026t0032	a0009c0026t0032g0099 a0009c0026t0032g0099	1	288	0.0035	28	c.359 others(43): Show c.359+188_359+189insTATATATATATATATATATATATATATA	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP92_chr3_128904873_128999076	128932378	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02922.hp2 HG03209.hp2 others(1): Show HG02683.hp1 HG02922.hp2 HG03209.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0297 a0002c0002t0002g0315 a0002c0002t0002g0317 others(1): Show a0002c0002t0002g0297 a0002c0002t0002g0315 a0002c0002t0002g0317 a0002c0002t0002g0318	4	156	0.0256	28	c.275 others(45): Show c.2751+321_2751+322insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	12/15			chr3	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01515.hp2 HG01516.hp1 others(3): Show HG01106.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02523.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0204 a0001c0002t0001g0006 a0001c0002t0001g0286 others(2): Show a0001c0001t0001g0204 a0001c0002t0001g0006 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0338	6	22	0.2727	28	c.153 others(45): Show c.153-3347_153-3320dupATATATATATATATATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTTAATAT others(21): Show TTTAATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	17	0.0588	28	c.153 others(45): Show c.153-3352_153-3351insTAATATATATATATATATATATATATAT	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(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01978.hp1 HG03471.hp1 others(1): Show HG01099.hp2 HG01978.hp1 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0268 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0268 a0001c0001t0001g0316	4	20	0.2000	28	c.153 others(45): Show c.153-3352_153-3351insTTATATATATATATATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97_chr4_185154665_185209000	185192733	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0067 a0001c0004t0007g0067	1	230	0.0043	28	c.-16 others(45): Show c.-16-1522_-16-1521insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CFAP97	ENSG00000164323.15	transcript	ENST00000458385.7	protein_coding	1/4			chr4	TogoVar
CFAP99_chr4_2413955_2468002	2435861	A A	AAGCAGCT others(21): Show AAGCAGCTACTCAGGAGGCCGAGGTGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02055.hp2 others(17): Show HG01109.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0011c0030	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0002 a0011c0030t0002	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0124 others(15): Show a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0002g0044 a0001c0003t0001g0126 a0001c0003t0002g0039 a0001c0003t0002g0043 a0001c0003t0002g0045 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0171 a0002c0002t0002g0041 a0002c0002t0002g0042 a0011c0030t0002g0040	20	118	0.1695	28	c.112 others(43): Show c.112-901_112-874dupGAGCAGCTACTCAGGAGGCCGAGGTGGG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP99_chr4_2413955_2468002	2435992	C C	CGAGGTGG others(21): Show CGAGGTGGGGAGCAGCTACTCAGGAGGCT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	58	0.0172	28	c.112 others(43): Show c.112-874_112-873insGAGCAGCTACTCAGGAGGCTGAGGTGGG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP99_chr4_2413955_2468002	2466647	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01081.hp2 HG01255.hp2 others(33): Show HG00673.hp2 HG01081.hp2 HG01255.hp2 HG01978.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp2 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA18974.hp2 NA18983.hp1 NA19030.hp1 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0003 a0001c0008 others(7): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0027 a0002c0002 a0003c0004 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0014t0001 a0001c0027t0001 a0002c0002t0001 a0003c0004t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0063 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0170 a0001c0001t0002g0044 a0001c0001t0003g0305 a0001c0001t0003g0313 a0001c0001t0005g0307 a0001c0003t0001g0176 a0001c0003t0001g0211 a0001c0003t0001g0312 a0001c0003t0002g0039 a0001c0003t0002g0171 a0001c0008t0001g0086 a0001c0009t0001g0113 a0001c0012t0001g0284 a0001c0014t0001g0160 a0001c0027t0001g0185 a0002c0002t0001g0087 a0002c0002t0001g0273 a0002c0002t0001g0290 a0003c0004t0001g0115 a0003c0004t0001g0121 a0007c0007t0001g0100	36	95	0.3789	28	c.37 others(39): Show c.3721_*3722insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75303400	A A	AATGTATG others(21): Show AATGTATGTATGTATGTATGTATGTATGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	171	0.0058	28	c.809 others(45): Show c.809+1596_809+1623dupACATACATACATACATACATACATACAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01978.hp2 HG02135.hp2 others(1): Show HG00140.hp1 HG01978.hp2 HG02135.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0259 a0001c0001t0001g0274 a0001c0001t0001g0284 others(1): Show a0001c0001t0001g0259 a0001c0001t0001g0274 a0001c0001t0001g0284 a0001c0002t0001g0032	4	206	0.0194	28	c.651 others(47): Show c.651-44501_651-44500insATATATATATATATATATATATATAT AT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01934.hp2 HG01978.hp1 others(2): Show HG00741.hp2 HG01934.hp2 HG01978.hp1 HG02273.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0151 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0151 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0002t0001g0283	5	125	0.0400	28	c.651 others(47): Show c.651-44503_651-44502insATATATATATATATATATATATATAT AT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19066.hp2 HG03225.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0051 a0001c0002t0001g0015 a0001c0002t0001g0051	2	29	0.0690	28	c.651 others(47): Show c.651-44507_651-44506insATATATATATATATATATATATATAT AT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	224	0.0045	28	c.651 others(47): Show c.651-44517_651-44516insGTGTGTATATATATATATATATATAT AT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	864042	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA18963.hp1 NA19067.hp1 HG02602.hp1 NA18963.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0059 a0001c0001t0002g0002 a0001c0001t0002g0059	3	166	0.0181	28	c.80 others(37): Show c.804_*805insCACACACACACACACACACACACACACA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		402		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA18992.hp1 HG02630.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0002g0002 a0001c0001t0001g0020 a0001c0001t0002g0002	2	210	0.0095	28	c.82 others(37): Show c.822_*823insCACACACACACACACACACACACACACG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFHR1_chr1_196814731_196837189	196824748	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	80	0.0125	28	c.59- others(41): Show c.59-723_59-696dupATATATATATATATATATATATATATAT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772694	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG04184.hp2 HG00673.hp1 HG04184.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0050 a0002c0001t0002g0003 a0002c0001t0002g0050	2	146	0.0137	28	c.-21 others(39): Show c.-2193_-2192insTATATATATATATATATATATATATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2145		chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	136	0.0074	28	c.151 others(45): Show c.1519+752_1519+753insTATATATAGAGAGAGAGAGAGAGAGAGA	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(21): Show TATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0078 a0004c0004t0001g0078	1	136	0.0074	28	c.151 others(45): Show c.1519+752_1519+753insTATATATATATATATATATAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109753228	A A	AATATATA others(21): Show AATATATATTTATTATATAAATAAATATT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	23	0.0435	28	c.905 others(43): Show c.905-726_905-725insAATATTTATTTATATAATAAATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753228	A A	AATATATA others(21): Show AATATATATTTCTTATATAAATAAATATT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	23	0.0435	28	c.905 others(43): Show c.905-726_905-725insAATATTTATTTATATAAGAAATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 NA18943.hp2 HG03471.hp2 NA18943.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0008 a0002c0005t0002 a0001c0002t0008 a0002c0005t0002	a0001c0002t0008g0014 a0002c0005t0002g0248 a0001c0002t0008g0014 a0002c0005t0002g0248	2	30	0.0667	28	c.-13 others(39): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01070.hp1 others(16): Show HG00544.hp1 HG01069.hp1 HG01070.hp1 HG01123.hp1 HG01496.hp1 HG01496.hp2 HG01975.hp1 HG01978.hp1 HG02132.hp1 HG02273.hp1 HG02293.hp2 HG02683.hp2 HG04115.hp1 NA18964.hp2 NA18974.hp2 NA18984.hp1 NA18992.hp2 NA19011.hp2 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0017 a0027	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0005c0006 a0017c0027 a0027c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0005t0002 a0001c0005t0004 a0002c0002t0003 a0002c0008t0003 a0005c0006t0002 a0005c0006t0004 a0017c0027t0017 a0027c0024t0002	a0001c0001t0001g0189 a0001c0001t0002g0225 a0001c0001t0002g0234 others(16): Show a0001c0001t0001g0189 a0001c0001t0002g0225 a0001c0001t0002g0234 a0001c0001t0011g0279 a0001c0005t0002g0200 a0001c0005t0002g0201 a0001c0005t0004g0232 a0001c0005t0004g0252 a0002c0002t0003g0068 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0228 a0002c0008t0003g0220 a0005c0006t0002g0169 a0005c0006t0004g0198 a0017c0027t0017g0283 a0027c0024t0002g0111	19	200	0.0950	28	c.-16 others(47): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0271 a0002c0002t0013g0271	1	17	0.0588	28	c.169 others(45): Show c.1698-170_1698-169insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(21): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18993.hp2 HG01928.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0002c0008t0003 a0001c0001t0002 a0002c0008t0003	a0001c0001t0002g0213 a0002c0008t0003g0020 a0001c0001t0002g0213 a0002c0008t0003g0020	2	18	0.1111	28	c.169 others(45): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGN_chr1_151506387_151543692	151512639	G G	GAACTAGA others(21): Show GAACTAGAGTCAACCTTAGCTTGGCCCCT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	380	0.0026	28	c.-15 others(45): Show c.-15+1125_-15+1152dupAACTAGAGTCAACCTTAGCTTGGCCCCT	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01516.hp2 NA18963.hp1 HG00735.hp1 HG01516.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0006g0273 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0006g0273	3	159	0.0189	28	c.-12 others(45): Show c.-12+1947_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03831.hp2 HG02015.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0009t0002 a0001c0002t0002 a0001c0009t0002	a0001c0002t0002g0016 a0001c0009t0002g0084 a0001c0002t0002g0016 a0001c0009t0002g0084	2	196	0.0102	28	c.-12 others(45): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03927.hp2 NA18959.hp2 others(2): Show HG02572.hp2 HG03927.hp2 NA18959.hp2 NA19010.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0182 a0001c0001t0001g0189 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0206	5	23	0.2174	28	c.369 others(47): Show c.369+19968_369+19995dupACACACACACACACACACACACACAC AC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126859612	C C	CTTGCAGC others(21): Show CTTGCAGCAACCCTGTAAGGTAGATTATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	214	0.0047	28	c.495 others(45): Show c.495+6885_495+6912dupGCAGCAACCCTGTAAGGTAGATTATATT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar

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