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
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02523.hp2 HG02683.hp2 others(3): Show HG01069.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0024 a0002c0003t0003g0027 a0002c0003t0003g0038 others(3): Show a0002c0003t0003g0024 a0002c0003t0003g0027 a0002c0003t0003g0038 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0066	6	279	0.0215	40	c.197 others(59): Show c.197+10663_197+10664insTTATATATATATATATATATATATAT ATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp1 HG02451.hp2 others(1): Show HG01099.hp2 HG01256.hp1 HG02451.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0002g0036 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0002g0036 a0001c0001t0010g0065	4	28	0.1429	40	c.277 others(57): Show c.277-1459_277-1458insTATATATATATATATATATATATATATA TATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0054 a0001c0001t0031g0054	1	25	0.0400	40	c.277 others(57): Show c.277-1459_277-1458insTTTATATATATATATATATATATATATA TATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(33): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0034 a0034	a0034c0040 a0034c0040	a0034c0040t0002 a0034c0040t0002	a0034c0040t0002g0265 a0034c0040t0002g0265	1	276	0.0036	40	c.112 others(59): Show c.1126-1504_1126-1503insAAAAAAAAAAAAAGAAAAAAAAAAAG AAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(33): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03491.hp1 HG03669.hp2 others(11): Show HG03098.hp2 HG03491.hp1 HG03669.hp2 HG03688.hp1 NA18941.hp1 NA18951.hp2 NA18968.hp1 NA18970.hp2 NA18982.hp2 NA18983.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19070.hp1	a0001 a0002 a0012 others(3): Show a0001 a0002 a0012 a0013 a0015 a0042	a0001c0002 a0002c0003 a0012c0014 others(3): Show a0001c0002 a0002c0003 a0012c0014 a0013c0028 a0015c0031 a0042c0045	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 others(5): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0002c0003t0002 a0012c0014t0002 a0013c0028t0002 a0015c0031t0006 a0042c0045t0002	a0001c0002t0002g0349 a0001c0002t0002g0389 a0001c0002t0004g0046 others(10): Show a0001c0002t0002g0349 a0001c0002t0002g0389 a0001c0002t0004g0046 a0001c0002t0004g0056 a0001c0002t0004g0110 a0001c0002t0006g0019 a0001c0002t0006g0177 a0002c0003t0002g0213 a0012c0014t0002g0263 a0013c0028t0002g0354 a0015c0031t0006g0178 a0015c0031t0006g0179 a0042c0045t0002g0297	14	289	0.0484	40	c.112 others(59): Show c.1126-1504_1126-1503insAAAAAAAAAAAAGAAAAAAAAAAAAG AAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP20_chr16_58108592_58134381	58126857	G G	GCTGAGGG others(33): Show GCTGAGGGATACGGCCCCAAACTTTCCTTTTTCTTCTCTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	398	0.0025	40	c.84+ others(55): Show c.84+2135_84+2174dupAAAGAGAAGAAAAAGGAAAGTTTGGGGCCG TATCCCTCAG	CFAP20	ENSG00000070761.8	transcript	ENST00000262498.8	protein_coding	1/5			chr16	TogoVar
CFAP251_chr12_121913592_122008919	121966151	C C	CCCCTCCC others(33): Show CCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG01361.hp2 others(8): Show HG00741.hp1 HG01081.hp2 HG01361.hp2 HG01928.hp1 HG01981.hp1 HG02135.hp1 HG02273.hp1 HG02293.hp2 HG03017.hp1 NA18950.hp1 NA19058.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0157 a0002c0001t0001g0171 a0002c0001t0001g0179 others(8): Show a0002c0001t0001g0157 a0002c0001t0001g0171 a0002c0001t0001g0179 a0002c0001t0001g0182 a0002c0001t0001g0185 a0002c0001t0001g0186 a0002c0001t0001g0191 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0212 a0002c0001t0001g0229	11	229	0.0480	40	c.249 others(57): Show c.2493-765_2493-764insTCCCTCCCCTCCCCTCCCCTTCCCTCCC CTCCCCTCCCCT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121993506	C C	CCATCTAG others(33): Show CCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0199 a0002c0001t0001g0199	1	352	0.0028	40	c.300 others(59): Show c.3007-6189_3007-6150dupCCTCTTCCCAGCCGCCATCACATCTA GGAAGTGAGGAGCG	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113413	A A	AGAGAGAG others(33): Show AGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	397	0.0025	40	c.-73 others(49): Show c.-735_-734insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTC TCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		667		chr1	TogoVar
CFAP276_chr1_109100951_109117747	109113417	A A	AGAGAGAG others(33): Show AGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	401	0.0025	40	c.-73 others(49): Show c.-739_-738insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC TCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		671		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32609408	A A	AGGGGATA others(33): Show AGGGGATAGAGGGGAGGAGGGGAAGGAAGAAGAGGGAGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	414	0.0024	40	c.307 others(55): Show c.307+429_307+430insCTCCTCCCTCTTCTTCCTTCCCCTCCTCCC CTCTATCCCC	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	2/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(33): Show AACACACACACCCACACCCACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 NA18522.hp2 HG01109.hp1 HG01243.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0081 a0001c0003t0001g0086 a0001c0003t0002g0087 a0001c0003t0001g0081 a0001c0003t0001g0086 a0001c0003t0002g0087	3	22	0.1364	40	c.242 others(57): Show c.242+1215_242+1216insCCACACCCACACACACACACACACACAC ACACACACACAC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80902445	G G	GATATACA others(33): Show GATATACATATATACATATATGTATATATGTATATATGAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01168.hp1 HG02040.hp2 others(5): Show HG00423.hp2 HG01168.hp1 HG02040.hp2 HG02523.hp1 HG02735.hp2 NA18950.hp1 NA18963.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0039 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0004t0001g0094 a0001c0004t0001g0095	8	92	0.0870	40	c.476 others(59): Show c.476+32347_476+32348insAATATATACATATATACATATATGTA TATATGTATATATG	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80902445	G G	GATATACA others(33): Show GATATACATATATACATATATGTATATATGTATATATGTAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG03225.hp2 others(1): Show HG02451.hp1 HG02965.hp1 HG03225.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 a0001c0001t0002 a0001c0003t0002 a0002c0002t0001	a0001c0001t0002g0051 a0001c0003t0002g0084 a0002c0002t0001g0021 others(1): Show a0001c0001t0002g0051 a0001c0003t0002g0084 a0002c0002t0001g0021 a0002c0002t0001g0028	4	88	0.0455	40	c.476 others(59): Show c.476+32324_476+32363dupCATATATGTATATATGTATATATGTA TATATACATATATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334492	C C	CCTCAACC others(33): Show CCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	430	0.0023	40	c.144 others(57): Show c.144-1231_144-1230insCGGGGGGGGGGGGGGTGCGCGTGCCCGC CCAGAGGTTGAG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(33): Show ACCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0291 a0001c0002t0002g0291	1	182	0.0055	40	c.143 others(57): Show c.143+1240_143+1241insGTGCGCGTGCCCGCCCAGAGGTTGAGCG GGGGGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(33): Show ACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0069 a0001c0001t0015g0069	1	182	0.0055	40	c.143 others(57): Show c.143+1240_143+1241insGGGGGGGGGTGCGCGTGCCCGCCCAGAG GTTGAGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132820650	A A	AGTGCTGA others(33): Show AGTGCTGATGTGTGCTGTGTGTGCACTGATGTGTGCTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	243	0.0041	40	c.711 others(59): Show c.7118-5776_7118-5737dupACACAGCACACATCAGTGCACACACA GCACACATCAGCAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923855	A A	ATATATAT others(33): Show ATATATATGTACATATATGTATATATGTACATATATATGTG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	211	0.0047	40	c.250 others(57): Show c.250-2148_250-2109dupATATGTATATATGTACATATATATGTGT ATATATGTACAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	78	0.0128	40	c.117 others(59): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAAA GAAAGAAAGAAAGA	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(33): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 NA19030.hp1 HG01109.hp2 HG01884.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0045 a0001c0002t0001g0085 a0001c0002t0001g0017 a0001c0002t0001g0045 a0001c0002t0001g0085	3	80	0.0375	40	c.117 others(59): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAAAGAAAGA	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(33): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	78	0.0128	40	c.117 others(59): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631068	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	272	0.0037	40	c.117 others(59): Show c.1175-1809_1175-1808insGAAAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50247597	C C	CATATCCA others(33): Show CATATCCATACAATGGAATATCAATTCAGCCACATAAACAA	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0107 a0012c0015t0001g0107	1	400	0.0025	40	c.996 others(57): Show c.996+3160_996+3161insTTGTTTATGTGGCTGAATTGATATTCCA TTGTATGGATAT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	5/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96825423	T T	TTATATTA others(33): Show TTATATTATATATAATATATGTTATATTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp2 others(25): Show HG00323.hp1 HG00438.hp1 HG00544.hp2 HG01123.hp2 HG01192.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01975.hp2 HG02148.hp1 HG02735.hp2 NA18747.hp2 NA18947.hp2 NA18954.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18984.hp2 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19065.hp2 NA19081.hp1 NA19084.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0010 a0043 a0055 a0057 a0061 a0062	a0001c0012 a0003c0002 a0005c0004 others(9): Show a0001c0012 a0003c0002 a0005c0004 a0005c0015 a0005c0020 a0005c0041 a0010c0017 a0043c0094 a0055c0089 a0057c0063 a0061c0036 a0062c0038	a0001c0012t0001 a0003c0002t0001 a0005c0004t0001 others(9): Show a0001c0012t0001 a0003c0002t0001 a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 a0005c0041t0001 a0010c0017t0001 a0043c0094t0001 a0055c0089t0001 a0057c0063t0001 a0061c0036t0001 a0062c0038t0001	a0001c0012t0001g0040 a0003c0002t0001g0239 a0005c0004t0001g0009 others(25): Show a0001c0012t0001g0040 a0003c0002t0001g0239 a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0012 a0005c0004t0001g0013 a0005c0004t0001g0107 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0005c0004t0001g0113 a0005c0004t0001g0115 a0005c0004t0001g0116 a0005c0015t0001g0016 a0005c0015t0001g0034 a0005c0015t0001g0101 a0005c0020t0001g0144 a0005c0020t0001g0213 a0005c0020t0001g0249 a0005c0041t0001g0027 a0010c0017t0001g0260 a0010c0017t0001g0261 a0010c0017t0001g0262 a0043c0094t0001g0143 a0055c0089t0001g0142 a0057c0063t0001g0114 a0061c0036t0001g0095 a0062c0038t0001g0191	28	265	0.1057	40	c.909 others(59): Show c.9097-3577_9097-3538dupATATATGTTATATTATATATAATATA ATATATTATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP57_chr1_43167330_43259358	43180223	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0067 a0002c0005t0001g0067	1	245	0.0041	40	c.158 others(57): Show c.158-1295_158-1294insTATATATATATATATATATATATATATA TATATATATATA	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP61_chr20_20047532_20365698	20356361	A A	AGTGGTCA others(33): Show AGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0134	1	231	0.0043	40	c.351 others(59): Show c.3514-3822_3514-3783dupTAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356401	G G	GGTGGTCA others(33): Show GGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	231	0.0043	40	c.351 others(59): Show c.3514-3783_3514-3782insTACTGTGAGGGGAAGTGGTCACACTG AGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356461	G G	GTGGTCAC others(33): Show GTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	226	0.0044	40	c.351 others(59): Show c.3514-3709_3514-3670dupATGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356791	G G	GGTGGTCA others(33): Show GGTGGTCATAGTGTGAGAGGAGGTGGTCACACTGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	224	0.0045	40	c.351 others(59): Show c.3514-3412_3514-3411insTAGTGTGAGAGGAGGTGGTCACACTG AGGGGAAGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357035	C C	CTGAGGGG others(33): Show CTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03209.hp1 HG03453.hp1 others(2): Show HG01361.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0002c0002t0003	a0001c0001t0002g0061 a0001c0001t0003g0119 a0001c0001t0003g0139 others(2): Show a0001c0001t0002g0061 a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0003t0003g0142 a0002c0002t0003g0101	5	173	0.0289	40	c.351 others(59): Show c.3514-3171_3514-3170insGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357391	C C	CACTGAGG others(33): Show CACTGAGGGGAGGTGGTCACAGTGTACGGGGAGGTGGTCAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18947.hp1 HG01496.hp1 NA18947.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0001 a0008c0016t0002 a0001c0001t0001 a0008c0016t0002	a0001c0001t0001g0187 a0008c0016t0002g0164 a0001c0001t0001g0187 a0008c0016t0002g0164	2	228	0.0088	40	c.351 others(59): Show c.3514-2795_3514-2794insACGGGGAGGTGGTCATACTGAGGGGA GGTGGTCACAGTGT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357391	C C	CACTGAGG others(33): Show CACTGAGGGGAGGTGGTCACAGTGTGCGGGGAGGTGGTCAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp2 NA18955.hp1 others(2): Show HG03130.hp1 HG03195.hp2 NA18955.hp1 NA18969.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0178 a0001c0003t0004g0005 a0002c0002t0001g0143 others(2): Show a0001c0001t0001g0178 a0001c0003t0004g0005 a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012	5	231	0.0216	40	c.351 others(59): Show c.3514-2794_3514-2793insCGGGGAGGTGGTCATACTGAGGGGAG GTGGTCACAGTGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357454	G G	GAGGGGAG others(33): Show GAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01975.hp2 others(9): Show HG00558.hp2 HG00735.hp2 HG01975.hp2 HG01978.hp2 HG02080.hp2 HG02451.hp1 HG02717.hp2 HG03209.hp2 HG03834.hp2 NA18906.hp1 NA18970.hp1 NA19064.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0019 a0025	a0001c0001 a0001c0006 a0001c0027 others(5): Show a0001c0001 a0001c0006 a0001c0027 a0002c0002 a0002c0009 a0003c0005 a0019c0038 a0025c0028	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0027t0001 a0002c0002t0001 a0002c0009t0001 a0003c0005t0001 a0019c0038t0001 a0025c0028t0001	a0001c0001t0001g0040 a0001c0001t0001g0157 a0001c0001t0001g0177 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0157 a0001c0001t0001g0177 a0001c0001t0004g0003 a0001c0006t0003g0021 a0001c0027t0001g0170 a0002c0002t0001g0038 a0002c0002t0001g0226 a0002c0009t0001g0105 a0003c0005t0001g0080 a0019c0038t0001g0113 a0025c0028t0001g0099	12	209	0.0574	40	c.351 others(59): Show c.3514-2756_3514-2755insAGGGGAGGTGGTCATACTGTGAGTGA GGAGGTAGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357692	C C	CTGAGGAG others(33): Show CTGAGGAGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0008 a0001c0024t0008	a0001c0024t0008g0176 a0001c0024t0008g0176	1	223	0.0045	40	c.351 others(59): Show c.3514-2513_3514-2512insAGAGGTGGTCACACTGAGGGGAGGTG GTCATAGTGTGAGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357928	C C	CACACTGA others(33): Show CACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0215 a0002c0004t0001g0215	1	234	0.0043	40	c.351 others(59): Show c.3514-2272_3514-2271insGAGGTGGTCATAGTGTGAGGGGAGGT GGTGACACTGAGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357972	G G	GTGAGGGG others(33): Show GTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0174 a0002c0002t0001g0174	1	211	0.0047	40	c.351 others(59): Show c.3514-2222_3514-2221insCAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1971351	A A	ATGCACAC others(33): Show ATGCACACACATGCACACACATGCACACACATGCACACACG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0189 a0001c0015t0001g0189	1	266	0.0038	40	c.889 others(55): Show c.889-536_889-535insCGTGTGTGCATGTGTGTGCATGTGTGTGCA TGTGTGTGCA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	9/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1971351	A A	ATGCACAC others(33): Show ATGCACACACATGCACACATGTGCACACACATGCACACACG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp1 HG02135.hp2 others(6): Show HG02040.hp2 HG02080.hp1 HG02135.hp2 NA18747.hp1 NA18947.hp1 NA18954.hp1 NA18969.hp2 NA19074.hp1 NA19085.hp1	a0001 a0006 a0001 a0006	a0001c0015 a0001c0039 a0006c0026 others(2): Show a0001c0015 a0001c0039 a0006c0026 a0006c0027 a0006c0037	a0001c0015t0001 a0001c0015t0006 a0001c0039t0001 others(3): Show a0001c0015t0001 a0001c0015t0006 a0001c0039t0001 a0006c0026t0002 a0006c0027t0001 a0006c0037t0001	a0001c0015t0001g0168 a0001c0015t0001g0186 a0001c0015t0006g0243 others(6): Show a0001c0015t0001g0168 a0001c0015t0001g0186 a0001c0015t0006g0243 a0001c0039t0001g0063 a0006c0026t0002g0011 a0006c0026t0002g0110 a0006c0027t0001g0266 a0006c0027t0001g0269 a0006c0037t0001g0267	9	274	0.0328	40	c.889 others(55): Show c.889-536_889-535insCGTGTGTGCATGTGTGTGCACATGTGTGCA TGTGTGTGCA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	9/38			chr1	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	203	0.0049	40	c.651 others(59): Show c.651-44501_651-44500insATATATATATATATATATATATATAT ATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	55	0.0182	40	c.651 others(59): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	28	0.0357	40	c.651 others(59): Show c.651-44507_651-44506insATATATATATATATATATATATATAT ATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFH_chr1_196647043_196752504	196692753	T T	TCCCTTCC others(33): Show TCCCTTCCTTTCTTTTTGTTTCTTTCTTTCTCTTTCCCTTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02257.hp1 HG02630.hp2 others(7): Show HG01071.hp1 HG02257.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG03239.hp2 HG03540.hp2 HG03688.hp2 HG06807.hp1 NA20752.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0004 a0008c0009 a0001c0001 a0004c0004 a0008c0009	a0001c0001t0001 a0004c0004t0001 a0008c0009t0001 a0001c0001t0001 a0004c0004t0001 a0008c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0242 a0001c0001t0001g0296 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0242 a0001c0001t0001g0296 a0004c0004t0001g0038 a0004c0004t0001g0058 a0004c0004t0001g0059 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0265 a0008c0009t0001g0069	10	306	0.0327	40	c.133 others(59): Show c.1336+2515_1336+2516insCCTTCCTTTCTTTTTGTTTCTTTCTT TCTCTTTCCCTTCC	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(33): Show TAATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18522.hp2 HG01243.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0133 a0001c0002t0001g0134	2	299	0.0067	40	c.58- others(57): Show c.58-16988_58-16987insTATATATATATATATATATATATATATA TATATATATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp1 HG01993.hp2 others(6): Show HG01069.hp2 HG01081.hp1 HG01993.hp2 HG02055.hp1 HG02148.hp1 HG02280.hp1 HG04184.hp1 NA18980.hp2 NA19003.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0007 a0001c0001 a0001c0002 a0005c0007	a0001c0001t0001 a0001c0002t0001 a0005c0007t0001 a0001c0001t0001 a0001c0002t0001 a0005c0007t0001	a0001c0001t0001g0096 a0001c0002t0001g0037 a0001c0002t0001g0040 others(6): Show a0001c0001t0001g0096 a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0002t0001g0093 a0001c0002t0001g0275 a0001c0002t0001g0279 a0001c0002t0001g0288 a0001c0002t0001g0289 a0005c0007t0001g0046	9	162	0.0556	40	c.58- others(57): Show c.58-16989_58-16988insATATATATATATATATATATATATATAT ATATATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFTR_chr7_117475025_117673665	117612019	A A	ATATATGT others(33): Show ATATATGTATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	188	0.0053	40	c.336 others(57): Show c.3367+214_3367+215insATGTATATATATATATATATATATATAT ATATGTATGTAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19064.hp1 NA19082.hp1 NA19007.hp2 NA19064.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	3	159	0.0189	40	c.-12 others(57): Show c.-12+1935_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	195	0.0051	40	c.-12 others(57): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHD6_chr20_41397083_41623377	41424975	T T	TAAAGACA others(33): Show TAAAGACAGGGTGTTCCTAGACCTCATCAGACTCCCATCAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0019 a0019	a0019c0015 a0019c0015	a0019c0015t0007 a0019c0015t0007	a0019c0015t0007g0307 a0019c0015t0007g0307	1	322	0.0031	40	c.434 others(57): Show c.4346+163_4346+202dupGTGATGGGAGTCTGATGAGGTCTAGGAA CACCCTGTCTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	29/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	121	0.0083	40	c.853 others(57): Show c.853-4721_853-4720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar

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