Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CERS3_chr15_100395395_100533950	100466812	C C	CCTCTCCC others(44): Show CCTCTCCCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTCT CT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0262 a0004c0005t0002g0262	1	362	0.0028	51	c.845 others(68): Show c.845+2565_845+2566insAGAGAAGAGAGAAAGAGAGAAAGAGAGA AAGAGAGAGAGAGAGAGGGAGAG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466825	C C	CTCTTTCT others(44): Show CTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTCTCTCTCTCTCTC TT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	362	0.0028	51	c.845 others(68): Show c.845+2552_845+2553insAAGAGAGAGAGAGAGAAGAGAGAAAGAG AGAAAGAGAGAAAGAGAGAAAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(44): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0045 a0002c0003t0003g0045	1	320	0.0031	51	c.197 others(70): Show c.197+10663_197+10664insTATATATATATATATATATATATATA TATATATATATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CES5A_chr16_55841154_55880373	55847274	C C	CCTTCCCT others(44): Show CCTTCCCTCTCTCTCTTCCTTCTTTCTCCCTCTCTCTCTCCCTTCTCTCT TT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG01928.hp1 others(2): Show HG01261.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0005 a0004c0006 a0006c0007 a0002c0005 a0004c0006 a0006c0007	a0002c0005t0001 a0004c0006t0001 a0004c0006t0005 others(1): Show a0002c0005t0001 a0004c0006t0001 a0004c0006t0005 a0006c0007t0001	a0002c0005t0001g0260 a0004c0006t0001g0383 a0004c0006t0001g0385 others(2): Show a0002c0005t0001g0260 a0004c0006t0001g0383 a0004c0006t0001g0385 a0004c0006t0005g0138 a0006c0007t0001g0216	5	449	0.0111	51	c.142 others(68): Show c.1424-485_1424-435dupAAAGAGAGAAGGGAGAGAGAGAGGGAGA AAGAAGGAAGAGAGAGAGGGAAG	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	11/12			chr16	TogoVar
CFAP299_chr4_80330730_80968750	80800167	A A	ATATAATA others(44): Show ATATAATATATAATAATATATCATACTATATAATATAATATATAATATAT AT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00639.hp1 others(17): Show HG00408.hp1 HG00597.hp2 HG00639.hp1 HG02280.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18957.hp2 NA18983.hp2 NA18998.hp1 NA19005.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(17): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0005t0001g0058 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0006t0001g0034	20	96	0.2083	51	c.334 others(70): Show c.334-69808_334-69807insATCATACTATATAATATAATATATAA TATATATTATAATATATAATAATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132820852	C C	CTGTGTGC others(44): Show CTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGTGCTGTGTGCTGTGA GT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0001 a0038c0037t0001	a0038c0037t0001g0230 a0038c0037t0001g0230	1	246	0.0041	51	c.711 others(70): Show c.7118-5939_7118-5938insACTCACAGCACACAGCACACACAGCA CACATCAGCACACACACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132851825	A A	GCAGATCC others(44): Show GCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTTAGGAATT CT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02280.hp2 HG02630.hp1 HG01257.hp2 HG02280.hp2 HG02630.hp1	a0012 a0067 a0012 a0067	a0012c0025 a0067c0069 a0012c0025 a0067c0069	a0012c0025t0002 a0067c0069t0002 a0012c0025t0002 a0067c0069t0002	a0012c0025t0002g0007 a0012c0025t0002g0014 a0067c0069t0002g0015 a0012c0025t0002g0007 a0012c0025t0002g0014 a0067c0069t0002g0015	3	246	0.0122	51	c.557 others(64): Show c.5575-520delTinsAGAATTCCTAAGTAAATGGAGGAACATACCACG TCTGTGGATCAGGATCTGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132851922	A A	AATTCTCA others(44): Show AATTCTCAGATCCTGATCCACAGACCTGGTATGTTCCTCCATTTACTTAG AC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0051 a0051	a0051c0105 a0051c0105	a0051c0105t0001 a0051c0105t0001	a0051c0105t0001g0239 a0051c0105t0001g0239	1	246	0.0041	51	c.557 others(68): Show c.5575-618_5575-617insGTCTAAGTAAATGGAGGAACATACCAGG TCTGTGGATCAGGATCTGAGAAT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852020	T T	TAGACATT others(44): Show TAGACATTCTCAGATCCTGATCCACAGACCTGGTATGTTCCTCCATTTAC TG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0066 a0066	a0066c0077 a0066c0077	a0066c0077t0001 a0066c0077t0001	a0066c0077t0001g0127 a0066c0077t0001g0127	1	246	0.0041	51	c.557 others(68): Show c.5575-716_5575-715insCAGTAAATGGAGGAACATACCAGGTCTG TGGATCAGGATCTGAGAATGTCT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852024	C C	CATTCTCA others(44): Show CATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTTAA GA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00597.hp2 others(59): Show HG00280.hp2 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19090.hp2 NA20805.hp1 NA20905.hp1	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0016 a0025 a0030 a0031 a0036 a0040 a0042 a0044 a0047 a0052	a0002c0002 a0002c0003 a0002c0023 others(18): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0003c0007 a0003c0012 a0003c0080 a0004c0019 a0004c0038 a0016c0031 a0016c0095 a0025c0033 a0030c0066 a0031c0065 a0036c0051 a0040c0050 a0042c0053 a0044c0055 a0047c0035 a0052c0067	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(19): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0080t0002 a0004c0019t0001 a0004c0038t0001 a0016c0031t0002 a0016c0095t0002 a0025c0033t0001 a0025c0033t0003 a0030c0066t0001 a0031c0065t0001 a0036c0051t0001 a0040c0050t0001 a0042c0053t0001 a0044c0055t0001 a0047c0035t0001 a0052c0067t0002	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 others(58): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0003c0007t0002g0056 a0003c0007t0002g0057 a0003c0007t0002g0058 a0003c0007t0002g0059 a0003c0007t0002g0060 a0003c0007t0002g0062 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0080t0002g0074 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0016c0031t0002g0030 a0016c0031t0002g0072 a0016c0095t0002g0114 a0025c0033t0001g0238 a0025c0033t0003g0237 a0030c0066t0001g0231 a0031c0065t0001g0232 a0036c0051t0001g0180 a0040c0050t0001g0178 a0042c0053t0001g0191 a0044c0055t0001g0183 a0047c0035t0001g0161 a0052c0067t0002g0013	62	246	0.2520	51	c.557 others(68): Show c.5575-770_5575-720dupTCTTAAGTAAATGGAGGAACATACCACG TCTGTGGATCAGGATCTGAGAAT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP54_chr12_96484577_96880555	96827763	T T	TTATATTA others(44): Show TTATATTATATATAGTTATATATAATATATAATTATATATAATACATAGT AA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0134 a0002c0007t0001g0134	1	268	0.0037	51	c.909 others(70): Show c.9097-1138_9097-1088dupATAGTTATATATAATATATAATTATA TATAATACATAGTAATATATTATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827788	T T	TATATAAT others(44): Show TATATAATTGTATATAATACATAGTAATATATTATATATAGTTATATATA AG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG01358.hp1 others(17): Show HG00544.hp2 HG01123.hp2 HG01358.hp1 HG01975.hp2 HG02148.hp1 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	a0005 a0035 a0055 a0005 a0035 a0055	a0005c0004 a0005c0015 a0005c0020 others(3): Show a0005c0004 a0005c0015 a0005c0020 a0005c0041 a0035c0063 a0055c0089	a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 others(3): Show a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 a0005c0041t0001 a0035c0063t0001 a0055c0089t0001	a0005c0004t0001g0010 a0005c0004t0001g0011 a0005c0004t0001g0012 others(17): Show a0005c0004t0001g0010 a0005c0004t0001g0011 a0005c0004t0001g0012 a0005c0004t0001g0013 a0005c0004t0001g0108 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0005c0004t0001g0114 a0005c0004t0001g0115 a0005c0004t0001g0116 a0005c0015t0001g0016 a0005c0015t0001g0062 a0005c0015t0001g0102 a0005c0020t0001g0142 a0005c0020t0001g0213 a0005c0020t0001g0250 a0005c0041t0001g0057 a0035c0063t0001g0113 a0055c0089t0001g0150	20	268	0.0746	51	c.909 others(70): Show c.9097-1218_9097-1217insGTATATAATACATAGTAATATATTAT ATATAGTTATATATAAGATATAATT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP65_chr2_218997846_219046516	219014918	G G	GAGCACGC others(44): Show GAGCACGCAACACACACCTGAGGAGAATGCATGCAACACACACCTGAGAG GA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp2 HG03579.hp2 HG01243.hp2 HG02647.hp2 HG03579.hp2	a0005 a0005	a0005c0043 a0005c0044 a0005c0045 a0005c0043 a0005c0044 a0005c0045	a0005c0043t0001 a0005c0044t0001 a0005c0045t0001 a0005c0043t0001 a0005c0044t0001 a0005c0045t0001	a0005c0043t0001g0053 a0005c0044t0001g0052 a0005c0045t0001g0168 a0005c0043t0001g0053 a0005c0044t0001g0052 a0005c0045t0001g0168	3	322	0.0093	51	c.360 others(68): Show c.3603-925_3603-875dupTCCTCTCAGGTGTGTGTTGCATGCATTC TCCTCAGGTGTGTGTTGCGTGCT	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	21/34			chr2	TogoVar
CFD_chr19_854664_868641	866551	A A	AGGCCTGC others(44): Show AGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCG CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02165.hp2 NA18947.hp2 others(2): Show HG00438.hp2 HG02165.hp2 NA18947.hp2 NA19012.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0062	5	287	0.0174	51	c.33 others(62): Show c.3313_*3314insGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTC CCCGTCCACCCGCCGCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2911		chr19	TogoVar
CFD_chr19_854664_868641	866580	C C	CTCCTCCC others(44): Show CTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 NA19080.hp1 HG01123.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	2	287	0.0070	51	c.33 others(62): Show c.3342_*3343insTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCC TCGCCAGCGCTCCCATG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2940		chr19	TogoVar
CFD_chr19_854664_868641	866617	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCGCAGGCCCGCACCCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	287	0.0035	51	c.33 others(62): Show c.3379_*3380insCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCG CAGGCCCGCACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2977		chr19	TogoVar
CFD_chr19_854664_868641	866617	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	287	0.0035	51	c.33 others(62): Show c.3379_*3380insCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCG CGGGCCTGCACCCCTCC	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2977		chr19	TogoVar
CFD_chr19_854664_868641	866668	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02300.hp1 HG03688.hp1 HG01978.hp2 HG02300.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0003	3	287	0.0105	51	c.34 others(62): Show c.3430_*3431insCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCG CAGGCCCGCACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3028		chr19	TogoVar
CFD_chr19_854664_868641	866688	C C	CCTGTCCG others(44): Show CCTGTCCGCCCGCCACGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02055.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	287	0.0070	51	c.34 others(62): Show c.3450_*3451insCTGTCCGCCCGCCACGGGCCTGCACCCCTCGCCA GCGCTCCCATCTCCTCT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3048		chr19	TogoVar
CFD_chr19_854664_868641	866709	T T	TGCACCCC others(44): Show TGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCGCGGGC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	287	0.0035	51	c.34 others(62): Show c.3471_*3472insGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGT CCACCCATCGCGGGCCC	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3069		chr19	TogoVar
CFD_chr19_854664_868641	866719	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCGCAGGCCCGCACCCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	287	0.0035	51	c.34 others(62): Show c.3481_*3482insCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCG CAGGCCCGCACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3079		chr19	TogoVar
CFD_chr19_854664_868641	866733	C C	CTCCTCCC others(44): Show CTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCCTCGCCAGCGCTCCCA TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02970.hp1 HG02258.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0023 a0001c0001t0003g0004 a0001c0001t0003g0023	2	287	0.0070	51	c.34 others(62): Show c.3495_*3496insTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCC TCGCCAGCGCTCCCATG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3093		chr19	TogoVar
CFD_chr19_854664_868641	866803	C C	CGCGGGCC others(44): Show CGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCA CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	287	0.0035	51	c.35 others(62): Show c.3565_*3566insGCGGGCCCACACCCCTCACCAGCGCTCCCATCTC CTCTCCGTCCGCCCACT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3163		chr19	TogoVar
CFD_chr19_854664_868641	866821	A A	ACCAGCGC others(44): Show ACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCT CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	287	0.0035	51	c.35 others(62): Show c.3583_*3584insCCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTG CGGGCCCGCACCCCTCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3181		chr19	TogoVar
CFD_chr19_854664_868641	866848	G G	GCCCACTG others(44): Show GCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA19066.hp2 NA18979.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	287	0.0070	51	c.36 others(62): Show c.3610_*3611insCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCC CATCTCCTCTCCGTCCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3208		chr19	TogoVar
CFD_chr19_854664_868641	866899	A A	ACCCACTG others(44): Show ACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	287	0.0035	51	c.36 others(62): Show c.3661_*3662insCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCC CATCTCCTCTCCGTCCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3259		chr19	TogoVar
CFD_chr19_854664_868641	866899	A A	ACCCGCCG others(44): Show ACCCGCCGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCCTCTCCGTC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	287	0.0035	51	c.36 others(62): Show c.3661_*3662insCCCGCCGCGGGCCCACACCCCTCACCAGCGCTCC CATCTCCTCTCCGTCCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3259		chr19	TogoVar
CFD_chr19_854664_868641	866923	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	287	0.0035	51	c.36 others(62): Show c.3685_*3686insCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCG CGGGCCCACACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3283		chr19	TogoVar
CFI_chr4_109735695_109806999	109753296	A A	AAATATTT others(44): Show AAATATTTATAATATATATTTATTATATAAATATTTATAATATATATTTA TT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	354	0.0028	51	c.905 others(66): Show c.905-794_905-793insAATAAATATATATTATAAATATTTATATAA TAAATATATATTATAAATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753296	A A	ATTTATTA others(44): Show ATTTATTATATAAATAAATATTTATAATATATATTTATAATATATTTATT AT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01109.hp2 others(18): Show HG00099.hp1 HG00639.hp1 HG01109.hp2 HG01255.hp2 HG02145.hp2 HG02165.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG03017.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03831.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18998.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0011 a0001c0001 a0001c0002 a0009c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0009c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0270 a0001c0001t0001g0286 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0327 a0001c0002t0001g0045 a0001c0002t0001g0112 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0274 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0009c0011t0001g0113	21	354	0.0593	51	c.905 others(66): Show c.905-794_905-793insATAATAAATATATTATAAATATATATTATA AATATTTATTTATATAATAAA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753355	A A	AAATATTT others(44): Show AAATATTTATAATATATATTTATTATAAATATTTATAATATATATTTATT AT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp1 NA19030.hp2 others(1): Show HG02723.hp2 HG03098.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0058	4	354	0.0113	51	c.905 others(66): Show c.905-853_905-852insATAATAAATATATATTATAAATATTTATAA TAAATATATATTATAAATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753355	A A	ATTTATTA others(44): Show ATTTATTATATAAATAAATATTTATAATATATATTTATAATATATTTATT AT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0259 a0002c0003t0001g0259	1	354	0.0028	51	c.905 others(66): Show c.905-853_905-852insATAATAAATATATTATAAATATATATTATA AATATTTATTTATATAATAAA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CGNL1_chr15_57371505_57555717	57480248	G G	GAGCTCAC others(44): Show GAGCTCACGCCTGTAATCTTAGCACTTTGGGAGGTCGAGGTGGGTGGATC AC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG00735.hp1 others(32): Show HG00438.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01975.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03669.hp1 HG04199.hp2 NA18951.hp2 NA18994.hp2 NA19004.hp1 NA19030.hp1 NA19060.hp2 NA19068.hp2 NA19084.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0026	a0001c0001 a0001c0005 a0001c0015 others(13): Show a0001c0001 a0001c0005 a0001c0015 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0009c0014 a0010c0013 a0011c0012 a0012c0019 a0013c0018 a0014c0016 a0015c0035 a0026c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0005t0001 a0001c0015t0001 a0002c0002t0008 a0002c0002t0040 a0003c0003t0001 a0003c0003t0004 a0004c0004t0001 a0004c0004t0030 a0005c0006t0003 a0006c0007t0009 a0009c0014t0006 a0010c0013t0009 a0011c0012t0020 a0012c0019t0006 a0013c0018t0031 a0014c0016t0001 a0015c0035t0012 a0026c0023t0006	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 others(32): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0139 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0226 a0001c0001t0001g0247 a0001c0001t0001g0272 a0001c0001t0002g0070 a0001c0001t0004g0057 a0001c0001t0019g0160 a0001c0005t0001g0097 a0001c0005t0001g0222 a0001c0015t0001g0018 a0002c0002t0008g0039 a0002c0002t0040g0159 a0003c0003t0001g0178 a0003c0003t0004g0290 a0004c0004t0001g0011 a0004c0004t0001g0115 a0004c0004t0001g0205 a0004c0004t0030g0136 a0005c0006t0003g0176 a0006c0007t0009g0288 a0009c0014t0006g0096 a0009c0014t0006g0292 a0010c0013t0009g0012 a0011c0012t0020g0024 a0012c0019t0006g0158 a0013c0018t0031g0264 a0014c0016t0001g0008 a0015c0035t0012g0284 a0026c0023t0006g0184	35	294	0.1191	51	c.240 others(72): Show c.2403+18357_2403+18407dupAGCTCACGCCTGTAATCTTAGCAC TTTGGGAGGTCGAGGTGGGTGGATCAC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHCHD3_chr7_132779870_133087090	132983985	C C	CTCTCCCT others(44): Show CTCTCCCTCTCCCCACGGTCTCCCTCTCCCCACGGTCTCCCTCTCCCCAC GG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp2 HG01496.hp1 others(13): Show HG00280.hp2 HG01243.hp2 HG01496.hp1 HG02273.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03453.hp2 HG03579.hp1 NA19010.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0182 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0266 a0001c0001t0001g0302 a0001c0004t0002g0041	16	310	0.0516	51	c.252 others(68): Show c.252-8750_252-8700dupCCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGACCGTGGGGAGAGGGAGA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126862912	T T	TCCTCCTC others(44): Show TCCTCCTCCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCATCAC CA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	216	0.0046	51	c.495 others(70): Show c.495+10193_495+10194insTCCACCATCATCACCTCCTCCTCCTC CTCCACCATCACCACCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862993	A A	ACCATTAC others(44): Show ACCATTACAACCGCCTCCTCCACCATCATCACCACCTCCTCCTCCTCCTC CT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01361.hp2 HG01433.hp2 others(11): Show HG01168.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02145.hp1 HG02273.hp2 HG02683.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG04204.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0005 a0002c0002 a0007c0005	a0002c0002t0001 a0007c0005t0001 a0002c0002t0001 a0007c0005t0001	a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 others(11): Show a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0007c0005t0001g0051	14	216	0.0648	51	c.495 others(70): Show c.495+10267_495+10268insTACAACCGCCTCCTCCACCATCATCA CCACCTCCTCCTCCTCCTCCTCCAT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD3_chr17_7883789_7917755	7885304	T T	TCCGCCGC others(44): Show TCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	366	0.0027	51	c.-36 others(62): Show c.-3697_-3696insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3484		chr17	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(44): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CG	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	51	c.-36 others(62): Show c.-3694_-3693insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHI3L1_chr1_203173931_203191704	203174246	G G	GCCCCCCC others(44): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	468	0.0021	51	c.51 others(62): Show c.5198_*5199insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGG	CHI3L1	ENSG00000133048.13	transcript	ENST00000255409.8	protein_coding		4684		chr1	TogoVar
CHL1_chr3_191763_414417	226374	T T	TTATATAT others(44): Show TTATATATATATATATACTTATATATTATATATTATATAATAGAATATTT TA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0241 a0001c0001t0013g0241	1	290	0.0035	51	c.-17 others(72): Show c.-174-18227_-174-18226insTATACTTATATATTATATATTATA TAATAGAATATTTTATATATATATATA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRM3_chr1_239381568_239920450	239662893	C C	CTCCTCTT others(44): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03710.hp2 HG01496.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0066 a0001c0001t0010g0103 a0001c0001t0003g0066 a0001c0001t0010g0103	2	116	0.0172	51	c.-24 others(72): Show c.-249-15291_-249-15290insCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239732284	T T	TATACCTA others(44): Show TATACCTAATATCTCACTTAGATAAGTATACCTAATATCTCACTTAGATA AG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03195.hp1 NA19000.hp1 HG01106.hp2 HG03195.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0057 a0001c0001t0001 a0001c0001t0018 a0001c0001t0057	a0001c0001t0001g0054 a0001c0001t0018g0022 a0001c0001t0057g0084 a0001c0001t0001g0054 a0001c0001t0018g0022 a0001c0001t0057g0084	3	116	0.0259	51	c.-14 others(72): Show c.-147+53997_-147+54047dupATACCTAATATCTCACTTAGATAA GTATACCTAATATCTCACTTAGATAAG	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA3_chr15_78590309_78625996	78613851	T T	TAGGGAAG others(44): Show TAGGGAAGACTTTATCATTGGACGGCGCAACCGGCCTAACGGGCCGCTCT CA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0114 a0001c0008t0004g0114	1	410	0.0024	51	c.377 others(68): Show c.377+3172_377+3173insTGAGAGCGGCCCGTTAGGCCGGTTGCGC CGTCCAATGATAAAGTCTTCCCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	4/5			chr15	TogoVar
CLDN8_chr21_30209006_30221097	30210286	T T	TATATATA others(44): Show TATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGT AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	466	0.0022	51	c.49 others(62): Show c.4961_*4962insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3719		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210290	T T	TATATATA others(44): Show TATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGT AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	3	466	0.0064	51	c.49 others(62): Show c.4957_*4958insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3715		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210422	T T	TATATATA others(44): Show TATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGT AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0000 a0004c0004t0004g0000	1	466	0.0022	51	c.48 others(62): Show c.4825_*4826insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3583		chr21	TogoVar
CLMN_chr14_95176940_95324908	95319909	G G	GGCGGGCG others(44): Show GGCGGGCGCGGGCGGGGCGCGGGCGCGGGCGGGGCGCGGGCGCGGGCGGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02735.hp2 HG03041.hp1 others(2): Show HG02300.hp2 HG02735.hp2 HG03041.hp1 HG03491.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0026 a0002c0004t0008	a0001c0001t0001g0094 a0001c0001t0003g0088 a0001c0001t0004g0089 others(2): Show a0001c0001t0001g0094 a0001c0001t0003g0088 a0001c0001t0004g0089 a0001c0001t0026g0084 a0002c0004t0008g0157	5	276	0.0181	51	c.-11 others(60): Show c.-118_-117insGCCCCGCCCGCGCCCGCGCCCCGCCCGCGCCCGCGC CCCGCCCGCGCCCGC	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding		2		chr14	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(44): Show CCTTCCTTCCTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0231 a0001c0001t0043g0231	1	320	0.0031	51	c.602 others(68): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAAGAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CMC1_chr3_28236619_28330142	28278044	C C	CTGATTGT others(44): Show CTGATTGTGTGATTGATGTGATTGTGTGATTGATGTGATTGTGTGATTGA TG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0257 a0001c0001t0018g0257	1	338	0.0030	51	c.109 others(70): Show c.109+14704_109+14705insTGTGATTGATGTGATTGTGTGATTGA TGTGATTGTGTGATTGATGTGATTG	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNNM2_chr10_102913294_103095222	102992397	T T	TGAGCAGC others(44): Show TGAGCAGCTGGGATTTACAGGCATCTGCCACCAAGCCCTGCTAATTTTTG TA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0223 a0001c0002t0003g0223	1	270	0.0037	51	c.162 others(72): Show c.1622-57309_1622-57259dupGAGCAGCTGGGATTTACAGGCATC TGCCACCAAGCCCTGCTAATTTTTGTA	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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