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	35923855	A A	ATATATGT others(9): Show ATATATGTACATATATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp1 HG02559.hp2 HG02976.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0209 a0020c0021t0001g0210 a0020c0021t0001g0209 a0020c0021t0001g0210	2	216	0.0093	16	c.250 others(33): Show c.250-2157_250-2156insGTACATATATGTATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35923882	T T	TGTACATA others(9): Show TGTACATATATGTATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG03225.hp1 others(1): Show HG02622.hp2 HG02717.hp1 HG03225.hp1 NA20129.hp1	a0015 a0031 a0042 others(1): Show a0015 a0031 a0042 a0053	a0015c0063 a0031c0061 a0042c0060 others(1): Show a0015c0063 a0031c0061 a0042c0060 a0053c0059	a0015c0063t0001 a0031c0061t0002 a0042c0060t0001 others(1): Show a0015c0063t0001 a0031c0061t0002 a0042c0060t0001 a0053c0059t0001	a0015c0063t0001g0213 a0031c0061t0002g0214 a0042c0060t0001g0208 others(1): Show a0015c0063t0001g0213 a0031c0061t0002g0214 a0042c0060t0001g0208 a0053c0059t0001g0215	4	216	0.0185	16	c.250 others(33): Show c.250-2135_250-2134insGTACATATATGTATAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63			chrX	TogoVar
CFAP47_chrX_35914734_36390317	35923944	C C	CATATATG others(9): Show CATATATGTACATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0023 a0023	a0023c0058 a0023c0058	a0023c0058t0001 a0023c0058t0001	a0023c0058t0001g0207 a0023c0058t0001g0207	1	216	0.0046	16	c.250 others(33): Show c.250-2071_250-2070insATATGTACATATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35960380	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0185 a0010c0030t0001g0185	1	216	0.0046	16	c.141 others(35): Show c.1410+4196_1410+4211dupAAAAAAAAAAAAAAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36148901	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG01884.hp2 HG02257.hp2	a0010 a0013 a0010 a0013	a0010c0049 a0013c0052 a0010c0049 a0013c0052	a0010c0049t0001 a0013c0052t0001 a0010c0049t0001 a0013c0052t0001	a0010c0049t0001g0184 a0013c0052t0001g0017 a0010c0049t0001g0184 a0013c0052t0001g0017	2	216	0.0093	16	c.567 others(33): Show c.5671-185_5671-170dupGTGTGTGTGTGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	36/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36248496	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0013 a0013	a0013c0055 a0013c0055	a0013c0055t0002 a0013c0055t0002	a0013c0055t0002g0191 a0013c0055t0002g0191	1	216	0.0046	16	c.733 others(35): Show c.7333-2824_7333-2809dupCACACACACACACACA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	48/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36248496	T T	TCTCACAC others(9): Show TCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0035 a0035	a0035c0062 a0035c0062	a0035c0062t0001 a0035c0062t0001	a0035c0062t0001g0216 a0035c0062t0001g0216	1	216	0.0046	16	c.733 others(35): Show c.7333-2836_7333-2835insTCACACACACACACAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	48/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36270549	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18906.hp1 HG02622.hp2 NA18906.hp1	a0013 a0031 a0013 a0031	a0013c0031 a0031c0061 a0013c0031 a0031c0061	a0013c0031t0002 a0031c0061t0002 a0013c0031t0002 a0031c0061t0002	a0013c0031t0002g0202 a0031c0061t0002g0214 a0013c0031t0002g0202 a0031c0061t0002g0214	2	216	0.0093	16	c.744 others(35): Show c.7445-9936_7445-9921dupATATATATATATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	49/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9591030	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0174 a0002c0001t0001g0174	1	316	0.0032	16	c.408 others(33): Show c.408-3154_408-3139dupTTTTTTTTTTTTTTTT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9592401	A A	AGAGGTTG others(9): Show AGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp2 HG01891.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0271 a0001c0002t0001g0025 a0001c0002t0001g0271	2	316	0.0063	16	c.408 others(33): Show c.408-1791_408-1776dupGAGGTTGCAGTGAGCC	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9629474	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	316	0.0032	16	c.117 others(33): Show c.1174+663_1174+678dupCTTTCTTTCTTTCTTT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9630426	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp1 HG02145.hp2 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0074 a0001c0005t0001g0077 a0001c0005t0001g0074 a0001c0005t0001g0077	2	316	0.0063	16	c.117 others(35): Show c.1174+1610_1174+1625dupTTTTTTTTTTTTTTTT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631024	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0302 a0002c0001t0001g0302	1	316	0.0032	16	c.117 others(35): Show c.1175-1861_1175-1860insGAGAGAGAGAGAGAGA	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(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18949.hp2 HG01243.hp2 NA18949.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0001 a0003c0003t0001 a0001c0002t0001 a0003c0003t0001	a0001c0002t0001g0010 a0003c0003t0001g0293 a0001c0002t0001g0010 a0003c0003t0001g0293	2	316	0.0063	16	c.117 others(35): Show c.1175-1848_1175-1833dupGAGAGAGAGAGAGAGA	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(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp1 HG02083.hp2 others(1): Show HG02040.hp2 HG02074.hp1 HG02083.hp2 NA19082.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0159 a0002c0001t0001g0167 a0002c0001t0001g0233 others(1): Show a0002c0001t0001g0159 a0002c0001t0001g0167 a0002c0001t0001g0233 a0002c0001t0001g0303	4	316	0.0127	16	c.117 others(35): Show c.1175-1845_1175-1844insAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631044	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18971.hp2 HG02809.hp1 NA18971.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0267 a0002c0001t0001g0280 a0002c0001t0001g0267 a0002c0001t0001g0280	2	316	0.0063	16	c.117 others(35): Show c.1175-1841_1175-1840insAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631048	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18970.hp1 NA19006.hp1 HG03130.hp1 NA18970.hp1 NA19006.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0002 a0002c0001t0003 a0001c0002t0001 a0002c0001t0002 a0002c0001t0003	a0001c0002t0001g0004 a0002c0001t0002g0141 a0002c0001t0003g0106 a0001c0002t0001g0004 a0002c0001t0002g0141 a0002c0001t0003g0106	3	316	0.0095	16	c.117 others(35): Show c.1175-1837_1175-1836insAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG03017.hp1 others(1): Show HG00741.hp2 HG01168.hp2 HG03017.hp1 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 a0001c0002t0002 a0002c0001t0001 a0002c0001t0002	a0001c0002t0002g0197 a0002c0001t0001g0313 a0002c0001t0002g0104 others(1): Show a0001c0002t0002g0197 a0002c0001t0001g0313 a0002c0001t0002g0104 a0002c0001t0002g0191	4	316	0.0127	16	c.117 others(35): Show c.1175-1820_1175-1805dupAAGAAAGAAAGAAAGA	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(9): Show GAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 NA19068.hp1 HG00741.hp1 HG01109.hp1 NA19068.hp1	a0002 a0016 a0002 a0016	a0002c0001 a0016c0011 a0002c0001 a0016c0011	a0002c0001t0002 a0016c0011t0002 a0002c0001t0002 a0016c0011t0002	a0002c0001t0002g0164 a0002c0001t0002g0181 a0016c0011t0002g0291 a0002c0001t0002g0164 a0002c0001t0002g0181 a0016c0011t0002g0291	3	316	0.0095	16	c.117 others(35): Show c.1175-1833_1175-1832insGAGAAAGAAAGAAAGA	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(9): Show GAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03688.hp1 HG02818.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0002	a0001c0002t0001g0041 a0002c0001t0002g0102 a0001c0002t0001g0041 a0002c0001t0002g0102	2	316	0.0063	16	c.117 others(35): Show c.1175-1833_1175-1832insGAGAGAGAAAGAAAGA	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(9): Show GAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	316	0.0032	16	c.117 others(35): Show c.1175-1833_1175-1832insGAGAGAGAGAGAAAGA	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(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0106 a0001c0001t0001g0107	2	402	0.0050	16	c.131 others(35): Show c.1316+1273_1316+1274insATATATATTTTTTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0251 a0003c0003t0001g0251	1	402	0.0025	16	c.131 others(35): Show c.1316+1273_1316+1274insATATATATATATTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96486137	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18990.hp1 NA18968.hp1 NA18990.hp1	a0003 a0005 a0003 a0005	a0003c0002 a0005c0004 a0003c0002 a0005c0004	a0003c0002t0001 a0005c0004t0001 a0003c0002t0001 a0005c0004t0001	a0003c0002t0001g0241 a0005c0004t0001g0108 a0003c0002t0001g0241 a0005c0004t0001g0108	2	268	0.0075	16	c.-34 others(27): Show c.-3473_-3472insTTTCTTTCTTTCTTTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		3439		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96486932	A A	ATTATTTA others(9): Show ATTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	268	0.0037	16	c.-26 others(27): Show c.-2678_-2677insTTATTTATTTATTTAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		2644		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96512301	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0154 a0002c0007t0001g0154	1	268	0.0037	16	c.740 others(31): Show c.740-651_740-636dupATATATATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	4/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96621875	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0062 a0005c0015t0001g0062	1	268	0.0037	16	c.377 others(33): Show c.3771+171_3771+186dupTTTTTTTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	27/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96647472	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18947.hp1 NA21309.hp1 HG01106.hp1 NA18947.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0165 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0165	3	268	0.0112	16	c.454 others(33): Show c.4548-394_4548-379dupAAAAAAAAAAAAAAAA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	33/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96654832	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01952.hp1 HG02056.hp1 others(20): Show HG00280.hp2 HG01952.hp1 HG02056.hp1 HG02083.hp2 HG02523.hp2 HG02738.hp2 HG03490.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 NA18944.hp2 NA18969.hp1 NA18970.hp1 NA18984.hp1 NA18995.hp2 NA18998.hp1 NA19012.hp1 NA19054.hp1 NA19066.hp2 NA19079.hp2 NA19084.hp1 NA19240.hp1	a0002 a0007 a0009 others(5): Show a0002 a0007 a0009 a0012 a0024 a0026 a0044 a0060	a0002c0003 a0002c0007 a0002c0032 others(8): Show a0002c0003 a0002c0007 a0002c0032 a0007c0009 a0007c0055 a0009c0075 a0012c0021 a0024c0022 a0026c0029 a0044c0074 a0060c0061	a0002c0003t0001 a0002c0007t0001 a0002c0032t0001 others(8): Show a0002c0003t0001 a0002c0007t0001 a0002c0032t0001 a0007c0009t0001 a0007c0055t0001 a0009c0075t0001 a0012c0021t0001 a0024c0022t0001 a0026c0029t0001 a0044c0074t0001 a0060c0061t0001	a0002c0003t0001g0122 a0002c0003t0001g0127 a0002c0003t0001g0143 others(20): Show a0002c0003t0001g0122 a0002c0003t0001g0127 a0002c0003t0001g0143 a0002c0003t0001g0151 a0002c0003t0001g0155 a0002c0007t0001g0124 a0002c0007t0001g0125 a0002c0007t0001g0134 a0002c0007t0001g0135 a0002c0007t0001g0152 a0002c0007t0001g0154 a0002c0032t0001g0222 a0007c0009t0001g0019 a0007c0009t0001g0027 a0007c0009t0001g0104 a0007c0055t0001g0042 a0009c0075t0001g0015 a0012c0021t0001g0203 a0024c0022t0001g0217 a0026c0029t0001g0001 a0026c0029t0001g0176 a0044c0074t0001g0243 a0060c0061t0001g0017	23	268	0.0858	16	c.510 others(35): Show c.5100+3018_5100+3033dupTTTTTTTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96752085	T T	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01993.hp2 HG02004.hp2 others(12): Show HG00544.hp2 HG01993.hp2 HG02004.hp2 HG02109.hp2 HG02145.hp2 HG02602.hp1 HG03098.hp1 HG03704.hp1 HG03704.hp2 NA18966.hp2 NA19030.hp1 NA19063.hp1 NA19065.hp2 NA19074.hp1 NA19087.hp1	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0006 a0019 a0035 a0038 a0052 a0055 a0057	a0001c0001 a0004c0011 a0005c0041 others(8): Show a0001c0001 a0004c0011 a0005c0041 a0006c0006 a0006c0010 a0019c0027 a0035c0054 a0038c0062 a0052c0098 a0055c0089 a0057c0063	a0001c0001t0001 a0004c0011t0001 a0005c0041t0001 others(8): Show a0001c0001t0001 a0004c0011t0001 a0005c0041t0001 a0006c0006t0001 a0006c0010t0001 a0019c0027t0001 a0035c0054t0001 a0038c0062t0001 a0052c0098t0001 a0055c0089t0001 a0057c0063t0001	a0001c0001t0001g0032 a0001c0001t0001g0091 a0001c0001t0001g0258 others(12): Show a0001c0001t0001g0032 a0001c0001t0001g0091 a0001c0001t0001g0258 a0004c0011t0001g0117 a0004c0011t0001g0119 a0005c0041t0001g0057 a0006c0006t0001g0053 a0006c0006t0001g0065 a0006c0010t0001g0141 a0019c0027t0001g0049 a0035c0054t0001g0105 a0038c0062t0001g0054 a0052c0098t0001g0208 a0055c0089t0001g0150 a0057c0063t0001g0113	15	268	0.0560	16	c.768 others(35): Show c.7685-1625_7685-1610dupGAGAGAGAGAGAGAGA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	55/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96806159	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0122 a0002c0003t0001g0122	1	268	0.0037	16	c.885 others(35): Show c.8851-5537_8851-5522dupTATATATATATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	63/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96806213	T T	TATATATA others(9): Show TATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02523.hp2 HG02602.hp2 others(2): Show HG00423.hp1 HG02523.hp2 HG02602.hp2 NA18971.hp1 NA19060.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0002 a0003c0016 a0002c0003 a0003c0002 a0003c0016	a0002c0003t0001 a0003c0002t0001 a0003c0016t0001 a0002c0003t0001 a0003c0002t0001 a0003c0016t0001	a0002c0003t0001g0155 a0003c0002t0001g0224 a0003c0002t0001g0233 others(2): Show a0002c0003t0001g0155 a0003c0002t0001g0224 a0003c0002t0001g0233 a0003c0016t0001g0247 a0003c0016t0001g0248	5	268	0.0187	16	c.885 others(35): Show c.8851-5522_8851-5521insTATATATATATATAAA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	63/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP57_chr1_43167330_43259358	43251473	C C	CCTGAAGA others(9): Show CCTGAAGAGTTCCTGAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18960.hp1 NA18939.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	308	0.0065	16	c.353 others(35): Show c.3539-2504_3539-2503insCTGAAGAGTTCCTGAA	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	22/22			chr1	TogoVar
CFAP58_chr10_104348833_104460102	104383753	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp2 HG00738.hp2 others(5): Show HG00673.hp1 HG00733.hp2 HG00738.hp2 NA18946.hp2 NA18973.hp1 NA18981.hp1 NA19007.hp1 NA19057.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0010 a0007c0014 a0001c0001 a0006c0010 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0006c0010t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0010t0001 a0007c0014t0001	a0001c0001t0001g0038 a0001c0001t0001g0117 a0001c0001t0001g0186 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0117 a0001c0001t0001g0186 a0001c0001t0001g0231 a0001c0001t0001g0282 a0001c0001t0002g0283 a0006c0010t0001g0170 a0007c0014t0001g0152	8	308	0.0260	16	c.136 others(35): Show c.1365+3548_1365+3563dupACACACACACACACAC	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP58_chr10_104348833_104460102	104458594	G G	GTGTATAT others(9): Show GTGTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	308	0.0033	16	c.40 others(27): Show c.4064_*4065insTGTATATATATATATA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding		3493		chr10	TogoVar
CFAP58_chr10_104348833_104460102	104458624	A A	ATATATAT others(9): Show ATATATATATATAGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	308	0.0033	16	c.40 others(27): Show c.4094_*4095insTATATATATATAGATT	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding		3523		chr10	TogoVar
CFAP61_chr20_20047532_20365698	20106000	C C	CTATACAT others(9): Show CTATACATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18942.hp2 HG02970.hp1 NA18942.hp2	a0005 a0027 a0005 a0027	a0005c0008 a0027c0031 a0005c0008 a0027c0031	a0005c0008t0001 a0027c0031t0002 a0005c0008t0001 a0027c0031t0002	a0005c0008t0001g0135 a0027c0031t0002g0043 a0005c0008t0001g0135 a0027c0031t0002g0043	2	236	0.0085	16	c.859 others(33): Show c.859+7190_859+7191insCATATATATATATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20117365	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp1 others(36): Show HG00408.hp2 HG00423.hp2 HG00558.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02148.hp1 HG02683.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp1 HG03579.hp1 HG04199.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18955.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18981.hp2 NA19005.hp1 NA19010.hp2 NA19064.hp2 NA19070.hp1 NA19081.hp1	a0001 a0008 a0018 others(2): Show a0001 a0008 a0018 a0027 a0028	a0001c0001 a0001c0003 a0001c0024 others(5): Show a0001c0001 a0001c0003 a0001c0024 a0001c0026 a0008c0016 a0018c0040 a0027c0031 a0028c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0024t0008 a0001c0026t0001 a0008c0016t0002 a0018c0040t0002 a0027c0031t0002 a0028c0044t0002	a0001c0001t0001g0040 a0001c0001t0001g0154 a0001c0001t0001g0157 others(36): Show a0001c0001t0001g0040 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0213 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0091 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0004g0003 a0001c0001t0004g0010 a0001c0001t0004g0014 a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0006g0019 a0001c0003t0001g0164 a0001c0024t0008g0176 a0001c0026t0001g0141 a0008c0016t0002g0044 a0008c0016t0002g0165 a0018c0040t0002g0160 a0027c0031t0002g0043 a0028c0044t0002g0035	39	236	0.1653	16	c.859 others(35): Show c.859+18561_859+18576dupAATAAATAAATAAATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20118251	A A	ATGTTTGT others(9): Show ATGTTTGTTTGTTTGTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0184 a0005c0008t0003g0184	1	236	0.0042	16	c.859 others(35): Show c.859+19442_859+19443insGTTTGTTTGTTTGTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20118253	G G	GTTCCTTT others(9): Show GTTCCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19064.hp2 NA18955.hp2 NA19064.hp2	a0001 a0028 a0001 a0028	a0001c0001 a0028c0044 a0001c0001 a0028c0044	a0001c0001t0004 a0028c0044t0002 a0001c0001t0004 a0028c0044t0002	a0001c0001t0004g0003 a0028c0044t0002g0035 a0001c0001t0004g0003 a0028c0044t0002g0035	2	236	0.0085	16	c.859 others(35): Show c.859+19441_859+19442insCCTTTCTTTCTTTCTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20118253	G G	GTTTCTTT others(9): Show GTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0012 a0002c0002t0004g0012	1	236	0.0042	16	c.859 others(35): Show c.859+19479_859+19494dupCTTTCTTTCTTTCTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20181276	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0018 a0002c0002 a0012c0018	a0002c0002t0002 a0012c0018t0003 a0002c0002t0002 a0012c0018t0003	a0002c0002t0002g0195 a0002c0002t0002g0227 a0012c0018t0003g0122 a0002c0002t0002g0195 a0002c0002t0002g0227 a0012c0018t0003g0122	3	236	0.0127	16	c.138 others(35): Show c.1386-6644_1386-6629dupCACACACACACACACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20269146	T T	TATATATA others(9): Show TATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	236	0.0042	16	c.250 others(35): Show c.2503+6017_2503+6018insTATATACACACACACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20269146	T T	TATATATA others(9): Show TATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG02293.hp2 others(1): Show HG00639.hp2 HG01891.hp1 HG02293.hp2 HG03239.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0003 a0002c0004 a0016c0037 a0001c0003 a0002c0004 a0016c0037	a0001c0003t0001 a0002c0004t0001 a0016c0037t0005 a0001c0003t0001 a0002c0004t0001 a0016c0037t0005	a0001c0003t0001g0031 a0001c0003t0001g0073 a0002c0004t0001g0025 others(1): Show a0001c0003t0001g0031 a0001c0003t0001g0073 a0002c0004t0001g0025 a0016c0037t0005g0138	4	236	0.0170	16	c.250 others(35): Show c.2503+6017_2503+6018insTATATATACACACACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20304272	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01256.hp1 HG00741.hp2 HG01123.hp2 HG01256.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0200 a0002c0002t0001g0189 a0002c0002t0002g0027 a0001c0001t0002g0200 a0002c0002t0001g0189 a0002c0002t0002g0027	3	236	0.0127	16	c.342 others(35): Show c.3422+5903_3422+5918dupTGTGTGTGTGTGTGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20327777	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	236	0.0042	16	c.342 others(37): Show c.3423-14041_3423-14026dupAAAAAAAAAAAAAAAA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20362811	A A	AGGAGGGA others(9): Show AGGAGGGAGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0047 a0004c0013t0002g0047	1	236	0.0042	16	c.24 others(27): Show c.2401_*2402insGGAGGGAGGGAGGGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding		2114		chr20	TogoVar
CFAP65_chr2_218997846_219046516	219004935	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02630.hp1 others(5): Show HG01891.hp2 HG02055.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03516.hp2 HG06807.hp1	a0004 a0005 a0027 others(1): Show a0004 a0005 a0027 a0031	a0004c0004 a0005c0007 a0027c0035 others(1): Show a0004c0004 a0005c0007 a0027c0035 a0031c0051	a0004c0004t0003 a0005c0007t0003 a0027c0035t0003 others(1): Show a0004c0004t0003 a0005c0007t0003 a0027c0035t0003 a0031c0051t0003	a0004c0004t0003g0199 a0005c0007t0003g0185 a0005c0007t0003g0187 others(5): Show a0004c0004t0003g0199 a0005c0007t0003g0185 a0005c0007t0003g0187 a0005c0007t0003g0188 a0005c0007t0003g0189 a0005c0007t0003g0190 a0027c0035t0003g0034 a0031c0051t0003g0186	8	322	0.0248	16	c.505 others(33): Show c.5051+483_5052-481dupGAAAGAAAGAAAGAAA	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	32/34			chr2	TogoVar
CFAP68_chr11_111874541_111890975	111886758	A A	ATGTATGT others(9): Show ATGTATGTATGTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	392	0.0026	16	c.28 others(27): Show c.2878_*2879insTGTATGTATGTATATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		784		chr11	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(9): Show ATATATATATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	392	0.0026	16	c.28 others(27): Show c.2882_*2883insTATATATATATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar

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