Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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
CDC34_chr19_526760_547087	540237	CGGGTTTA others(145): Show CGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	328	0.0031	-152	c.498 others(16): Show c.498-1099_498-948del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC34_chr19_526760_547087	540275	CGGTTTAG others(145): Show CGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	328	0.0031	-152	c.498 others(15): Show c.498-798_498-647del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH18_chr5_19466296_19993200	19960579	GTGTGTGT others(145): Show GTGTGTGTGTGTATATATATATATACACACACGTGTATATATATACACGT GTATATGTATACATATACACGTGTATATATATATACACATGTATATATAT GTATACATATACACGTGTATATATGTATATATGTATACACGTGTATATAC GTA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02965.hp2 others(3): Show HG02486.hp2 HG02572.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0004t0003	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0003g0033 a0001c0001t0011g0031 a0001c0004t0003g0027	6	138	0.0435	-152	c.-25 others(21): Show c.-257+20329_-257+20480del	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	2/12			chr5	TogoVar
CFAP221_chr2_119539449_119661661	119552678	TAGAAATA others(145): Show TAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTT TAATAAGAAATAAATAGAAATATTTCTTTAATAAGAAATAAATAGAAATA TTTCTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTAATAAGAAATA AAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02647.hp1 others(14): Show HG02258.hp2 HG02572.hp2 HG02647.hp1 HG02735.hp2 HG02976.hp1 HG03453.hp1 HG03471.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 NA18971.hp1 NA18973.hp1 NA18986.hp2 NA18990.hp1 NA19010.hp1 NA19057.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0005 a0008c0012 a0001c0001 a0004c0005 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0004c0005t0001 a0008c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0144 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0006g0033 a0004c0005t0001g0001 a0004c0005t0001g0016 a0008c0012t0001g0208	17	226	0.0752	-152	c.240 others(17): Show c.240+3527_240+3678del	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COG3_chr13_45459939_45541701	45513222	TATATAAT others(145): Show TATATAATATATACATATAAATTATACATATAATATATACATATAAATTA TATATAATATATACATATAAATTATACATATAATATATACATATAAATTA TACATATAATATATACATATAAATTATATATAATATATACATATAAATTA TAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(64): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18945.hp2 NA18949.hp1 NA18955.hp1 NA18962.hp2 NA18991.hp2 NA18994.hp1 NA19002.hp2 NA19011.hp2 NA19012.hp2 NA19066.hp2 NA19077.hp1 NA19082.hp1 NA19085.hp2 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0002 a0002c0007t0002 a0002c0003t0002 a0002c0007t0002	a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0007 others(61): Show a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0144 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0165 a0002c0003t0002g0166 a0002c0003t0002g0167 a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0176 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0202 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0218 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0231 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0003t0002g0237 a0002c0003t0002g0238 a0002c0007t0002g0223 a0002c0007t0002g0225 a0002c0007t0002g0226 a0002c0007t0002g0227 a0002c0007t0002g0228 a0002c0007t0002g0232	67	342	0.1959	-152	c.180 others(19): Show c.1809+1424_1809+1575del	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL20A1_chr20_63288186_63339806	63339654	GCATCATA others(145): Show GCATCATATCCACAAAGACGAGTGAATTACATCATATCCACACAGATGAA TGAATTACATCATATCCACACAGATGAATGAATTACATCATATCCACACA GATGAATGAATTGCATCATATCCACACAGATGAATGAATTATATCATATC CAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	290	0.0035	-152	c.89 others(11): Show c.8939_*9090del	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding		4849		chr20	TogoVar
CSF2RA_chrX_1263814_1314935	1314414	GTACTGCA others(145): Show GTACTGCACCTGCCCAACCGCACTGCACTTGCCCAATTGCACTGCACCTG CCCAACCCCAATGCACCTACCCAACCCCACTGTGCCTGCCCAACCGCACT GCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAA TCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	159	0.0063	-152	c.49 others(11): Show c.4936_*5087del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4480		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314697	CCCCACTG others(145): Show CCCCACTGTGCCTGCCCAATCGCACTGCACCTGCCCAATCCCACTGCACC TGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCA CTGCACCTGCCCAACCCCACTGTGCCTGCCCAACCGCACTGCACCTGCCC AAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	159	0.0063	-152	c.52 others(11): Show c.5219_*5370del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4763		chrX	TogoVar
CSNK1G2_chr19_1936172_1986338	1959547	GCCACCTT others(145): Show GCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACCCGTCCCACCTTTAGT GCCACCCTGAGTCCCCCAGCACCCGTGCCACCTTTAGTGCCACCGTGGGT CCCCCAGCACCCGCCCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACCC GTC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03041.hp1 HG03471.hp1 HG01109.hp2 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050	3	382	0.0079	-152	c.-26 others(19): Show c.-265-9943_-265-9792del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1959573	CCCAGCAC others(145): Show CCCAGCACCCGTCCCACCTTTAGTGCCACCCTGAGTCCCCCAGCACCCGT GCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACCCGCCCCACCTTTAGT GCCACCGTGGGTCCCCCAGCACCCGTCCCACCTTTAGTGCCACCCTGAGT CCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02723.hp2 others(4): Show HG02572.hp2 HG02630.hp1 HG02723.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0012 a0001c0002t0002 a0001c0001t0005 a0001c0001t0012 a0001c0002t0002	a0001c0001t0005g0020 a0001c0001t0005g0242 a0001c0001t0005g0254 others(4): Show a0001c0001t0005g0020 a0001c0001t0005g0242 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0012g0245 a0001c0002t0002g0055	7	382	0.0183	-152	c.-26 others(19): Show c.-265-9926_-265-9775del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1959623	GCCACCTT others(145): Show GCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACCCGCCCCACCTTTAGT GCCACCGTGGGTCCCCCAGCACCCGTCCCACCTTTAGTGCCACCCTGAGT CCTCCAGCACCTGTGCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACCC GTC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG03225.hp1 others(1): Show HG02615.hp2 HG02647.hp1 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0028 a0001c0001t0002 a0001c0001t0022 a0001c0001t0028	a0001c0001t0002g0063 a0001c0001t0002g0233 a0001c0001t0022g0180 others(1): Show a0001c0001t0002g0063 a0001c0001t0002g0233 a0001c0001t0022g0180 a0001c0001t0028g0064	4	382	0.0105	-152	c.-26 others(19): Show c.-265-9867_-265-9716del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15673875	TAACTCAC others(145): Show TAACTCACTCATTCCTCTACCCACTCACTCCTCTACCCACTCACTCACTC CTCTACCCACTCACTCACTCCTCTACCCACTCACTCATTCCTCTACCCAC TCACTCATTCCTCTACCCACTCACTCCTCTACCCACTCACTCACTCCTCT ACC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(87): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp2 HG00642.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01433.hp2 HG01515.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02622.hp2 HG02735.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18975.hp1 NA18978.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19076.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0017	a0001c0001 a0001c0008 a0001c0011 others(3): Show a0001c0001 a0001c0008 a0001c0011 a0002c0002 a0007c0009 a0017c0017	a0001c0001t0001 a0001c0001t0006 a0001c0008t0002 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0008t0002 a0001c0011t0001 a0002c0002t0001 a0007c0009t0001 a0017c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0006g0002 a0001c0001t0006g0037 a0001c0008t0002g0083 a0001c0011t0001g0030 a0002c0002t0001g0059 a0002c0002t0001g0079 a0007c0009t0001g0007 a0007c0009t0001g0092 a0017c0017t0001g0002	90	410	0.2195	-152	c.198 others(15): Show c.198+149_198+300del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12			chr19	TogoVar
CYTH1_chr17_78669048_78787273	78760384	TACACACA others(145): Show TACACACACATACATATATATATGTGTATATATATATATATACACATACA TATATATATGTATATATATATACATACATATATATATGTATATATATGTA TGTATATATATATACATATATATGTATATATATGTATATATATATATACA TAC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	378	0.0027	-152	c.22+ others(17): Show c.22+21666_22+21817del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051696	TGGACGGG others(145): Show TGGACGGGCGGGGCCGGGAGAGGTTGGGTGGGCGGGCGGGGCCGGGAGAG GTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGG CGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTG GGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	408	0.0025	-152	c.-60 others(9): Show c.-602_-451del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		65		chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051795	GCGGGGCC others(145): Show GCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTT GGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGACGC GGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGC GGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0236 a0001c0001t0022g0236	1	408	0.0025	-152	c.-70 others(9): Show c.-701_-550del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		164		chr17	TogoVar
DIP2C_chr10_269201_694668	417734	GCCTGTCA others(145): Show GCCTGTCAGGGCTCGGATAGGCATCCCTGTCCACCTGCACCTGTCAGGGC TCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCGCGGACAGGCCT CCCTGTCCACCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCT GCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0083 a0001c0015t0002g0083	1	88	0.0114	-152	c.739 others(17): Show c.739+1179_739+1330del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417810	TCCTGTCA others(145): Show TCCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGAGC TCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCT CCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCT GCA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	88	0.0114	-152	c.739 others(17): Show c.739+1103_739+1254del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417860	TCGGACAG others(145): Show TCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCT CCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCT GCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGG GCG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	88	0.0114	-152	c.739 others(17): Show c.739+1053_739+1204del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	425009	GGTGACTA others(145): Show GGTGACTAATACGACACGGATGATACAGCATGACCAGCGGTGACTAATAT GACACGGATGATACAGCATGACCAGCGGTGACTAATATGACACGGATGAT ACAGCATGACCAGCAGTGACTAATATGACACGGATGATACAGCATGACCA GCA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	88	0.0114	-152	c.395 others(17): Show c.395-2128_395-1977del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619101	GCTCCCCT others(145): Show GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCCTGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCC CCA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	250	0.0040	-152	c.-10 others(19): Show c.-107+5412_-107+5563del	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137565570	ACTCTGTC others(145): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	340	0.0029	-152	c.641 others(15): Show c.641-568_641-417del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565600	ACTCTGTC others(145): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	340	0.0029	-152	c.641 others(15): Show c.641-598_641-447del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566422	ACTCTGTC others(145): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02717.hp1 HG02148.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0264 a0002c0002t0001g0235 a0001c0001t0002g0264 a0002c0002t0001g0235	2	340	0.0059	-152	c.641 others(17): Show c.641-1420_641-1269del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566572	ACTCTGTC others(145): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATG ACT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01517.hp1 HG02055.hp2 others(8): Show HG01361.hp2 HG01517.hp1 HG02055.hp2 HG02451.hp1 HG02451.hp2 HG02976.hp2 HG03041.hp2 HG03579.hp1 HG03831.hp2 NA18747.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0061 others(8): Show a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0103 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0225	11	340	0.0324	-152	c.641 others(17): Show c.641-1570_641-1419del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566692	ACTCTGTC others(145): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	340	0.0029	-152	c.641 others(17): Show c.641-1690_641-1539del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567724	ACTCTGTC others(145): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	340	0.0029	-152	c.641 others(17): Show c.641-2722_641-2571del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567754	ACTCTGTC others(145): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	340	0.0029	-152	c.641 others(17): Show c.641-2752_641-2601del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819463	CTGAGGGG others(145): Show CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	170	0.0059	-152	c.354 others(19): Show c.3540+1349_3540+1500del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENOX1_chr13_43208130_43791972	43470248	ACATATAT others(145): Show ACATATATATATACATATATATACACATATATATACATATATATATACAC ATATATATACATATATATACACATATATATATGTATATATATACGTATAT ATATATGTATATATATACGTATATATATACATATATATACGTATATATAT GTG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02486.hp1 HG02559.hp2 others(2): Show HG01943.hp2 HG02486.hp1 HG02559.hp2 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0011 a0001c0003t0013 a0001c0001t0007 a0001c0003t0011 a0001c0003t0013	a0001c0001t0007g0183 a0001c0003t0011g0163 a0001c0003t0011g0171 others(2): Show a0001c0001t0007g0183 a0001c0003t0011g0163 a0001c0003t0011g0171 a0001c0003t0013g0093 a0001c0003t0013g0095	5	188	0.0266	-152	c.-75 others(19): Show c.-75+13609_-75+13760del	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENPP6_chr4_184083706_184222873	184219977	GAAGGGAA others(145): Show GAAGGGAAAGGGTAAGGGGAAGGGGAAGGGAAGGAGGAAAAAAGAATAGA AGGGAAGAAGGGAAAGGAAGAGAAGAAGGGAAGAAAAGCGAAGAAGGGAA GGGAAGGGAAGGGAAGGGGAGGGGAAGGGAAGGGAGGGAAAGAAGGGAAA GGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0171 a0002c0001t0001g0171	1	320	0.0031	-152	c.-23 others(11): Show c.-2310_-2159del	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2105		chr4	TogoVar
EPS8L2_chr11_701231_732727	731744	GTGATTCT others(145): Show GTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCTTGC CACCACGCCTGGCTAGTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAT GTTGGTCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTT GGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	406	0.0025	-152	c.47 others(11): Show c.4764_*4915del	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding		4018		chr11	TogoVar
ERC1_chr12_986223_1500931	1352567	ATCTTCTT others(145): Show ATCTTCTTAATTCAGAAAACATCACATTGAGATCTGTCAGTAAACCCCCC ACACACACAAATAATTTCTTGTCCTCATTGACCTTCGGTCTGAGCTCTTA ATGCAGTTTTCTCTACTACACTTGTCCATGCACATAGTGGTCGCAGACAT TTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG01109.hp1 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0080 a0002c0002t0048 a0002c0002t0080	a0002c0002t0048g0070 a0002c0002t0080g0127 a0002c0002t0048g0070 a0002c0002t0080g0127	2	162	0.0124	-152	c.278 others(21): Show c.2781-19265_2781-19114del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18			chr12	TogoVar
EXOC3L4_chr14_103089725_103115559	103109464	TCTCCCTC others(145): Show TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCT GCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCC CTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02622.hp1 HG01069.hp2 HG01071.hp1 HG02622.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0003 a0004c0010t0001 a0004c0010t0003	a0004c0010t0001g0294 a0004c0010t0003g0024 a0004c0010t0001g0294 a0004c0010t0003g0024	3	404	0.0074	-152	c.197 others(17): Show c.1977-558_1977-407del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC6B_chr2_72170984_72831033	72401515	ACATATAT others(145): Show ACATATATACATATATATATATATATATATGTGTATATATATATATATAT ACATATATATATATATACATATATATATATATATATATGTGTATATATAT ATATATACATATATATATATATACATATATACATATATATATATATATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02280.hp2 HG02451.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0009 a0003c0007t0006 a0001c0002t0009 a0003c0007t0006	a0001c0002t0009g0023 a0003c0007t0006g0070 a0001c0002t0009g0023 a0003c0007t0006g0070	2	104	0.0192	-152	c.198 others(21): Show c.1981-21797_1981-21646del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
FANCA_chr16_89732549_89821647	89745465	AAAACAGT others(145): Show AAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAG GGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCC TCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGA ACG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0055 a0006c0055	a0006c0055t0009 a0006c0055t0009	a0006c0055t0009g0309 a0006c0055t0009g0309	1	334	0.0030	-152	c.351 others(17): Show c.3514-546_3514-395del	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	35/42			chr16	TogoVar
FBXO34_chr14_55266421_55358611	55331684	TGTGTATA others(145): Show TGTGTATATATATATATATATGTATATATATATGTATATATATATGTATA TATATATGTGTGTATATATATATATATGTATATATATATATATATACCAC CATGGTGTATATATAAATATATATATATATACACCACCGGGGTGTATATA TAA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18950.hp1 NA19004.hp2 others(3): Show HG02040.hp2 NA18950.hp1 NA19004.hp2 NA19005.hp1 NA19054.hp2 NA19063.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0002 a0003c0003t0013 a0001c0001t0004 a0003c0003t0002 a0003c0003t0013	a0001c0001t0004g0060 a0003c0003t0002g0051 a0003c0003t0002g0061 others(3): Show a0001c0001t0004g0060 a0003c0003t0002g0051 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0108 a0003c0003t0013g0195	6	334	0.0180	-152	c.-10 others(19): Show c.-10-18696_-10-18545del	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1			chr14	TogoVar
FLYWCH2_chr16_2878215_2904365	2884445	GGGCGCGG others(145): Show GGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCA GGCAGATCACAAGGTCAGGAGATAGAGACCATTCTGACTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAAAAAAAAATACAAAAATTAGTCGGG GCC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	390	0.0026	-152	c.-20 others(19): Show c.-200+1090_-200+1241del	FLYWCH2	ENSG00000162076.13	transcript	ENST00000396958.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
GAL3ST2_chr2_241771822_241809287	241805401	CCTTCCCT others(145): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	314	0.0032	-152	c.12 others(11): Show c.1236_*1387del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1115		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807260	CTCCCCCC others(145): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCA CCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0071 a0007c0008t0001g0071	1	314	0.0032	-152	c.30 others(11): Show c.3095_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2974		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71680251	CCTTCCTC others(145): Show CCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCTATCCCTTCCTCCCTCCCTCTCTCTCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCGCGCTCTCTCTTCCTCCCTCCCGCTC TCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00642.hp2 others(12): Show HG00438.hp1 HG00438.hp2 HG00642.hp2 HG01106.hp1 HG01258.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp2 HG03490.hp1 HG03704.hp1 HG03710.hp1 HG04228.hp2 NA18983.hp2 NA19000.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0003t0014	a0001c0001t0001g0042 a0001c0001t0006g0056 a0001c0001t0006g0057 others(12): Show a0001c0001t0001g0042 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0064 a0001c0001t0006g0066 a0001c0001t0009g0063 a0001c0001t0011g0036 a0001c0001t0011g0040 a0001c0001t0011g0049 a0001c0001t0012g0008 a0001c0001t0012g0012 a0001c0001t0012g0014 a0001c0001t0015g0076 a0001c0003t0014g0068 a0001c0003t0014g0070	15	76	0.1974	-152	c.150 others(19): Show c.1500+2961_1500+3112del	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GAS6_chr13_113815549_113869076	113831721	AGAGCATG others(145): Show AGAGCATGAACTAAACGGGGCAGGGGTCCCCGTCCCCCGGAGCATGAACT AAACGGGGCAGGGGTCCCCGTCCCCCGGAGCATGAACTAAACGGGGCAGG GGTCCCCGTCCCCCGGAGCATGAACTAAACGGGGCAGGGGTCCCCGTCCC CCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01099.hp1 others(18): Show HG00423.hp1 HG00609.hp2 HG01099.hp1 HG01361.hp2 HG01978.hp1 HG02040.hp2 HG02135.hp1 HG02165.hp1 HG03017.hp1 HG03130.hp2 HG03225.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp1 NA18990.hp1 NA18995.hp1 NA19058.hp1 NA19064.hp2 NA19074.hp2 NA19088.hp1 NA19091.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0001c0017 a0006c0011	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0008t0001 a0001c0017t0001 a0006c0011t0001	a0001c0001t0001g0048 a0001c0003t0001g0006 a0001c0003t0001g0023 others(18): Show a0001c0001t0001g0048 a0001c0003t0001g0006 a0001c0003t0001g0023 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0123 a0001c0003t0005g0004 a0001c0008t0001g0079 a0001c0017t0001g0024 a0006c0011t0001g0100	21	143	0.1469	-152	c.114 others(17): Show c.1143+426_1143+577del	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GATA5_chr20_62458497_62480995	62476946	TTTTCTTT others(145): Show TTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGAGCACACCGGGTGGACCC AGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTTCTTCCTTCCTTTCTTTC TTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	382	0.0026	-152	c.-11 others(11): Show c.-1190_-1039del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		952		chr20	TogoVar
GCGR_chr17_81799150_81819008	81818737	CATAGTGA others(145): Show CATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAGATAGTGACTTG TGTGTGCACGCCAACACTACACGGCAGATAGTGACTTGTGTGTGCACGCC AACACTACACGGCAGATAGTGACTTGTGTGTGCACGCCAACACTACACGG CAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02027.hp2 HG02109.hp2 others(14): Show HG01081.hp2 HG02027.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02630.hp2 HG02647.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18961.hp2 NA18964.hp1 NA18973.hp1 NA18982.hp1 NA19054.hp1 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0002g0005	17	408	0.0417	-152	c.50 others(11): Show c.5049_*5200del	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		4730		chr17	TogoVar
GGT1_chr22_24598193_24633996	24605492	TTATATAA others(145): Show TTATATAATATTATATAATGTGTATTATATATTATATAATATTATATAAT GTGTATTATATATTATATAATATTATATAATGTGTATTATATATATAATA TTATATAATGTGTATTATATATATAATATTATATAATGTGTATTATATAT ATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19030.hp2 HG02451.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0011 a0001c0006 a0002c0011	a0001c0006t0001 a0002c0011t0005 a0001c0006t0001 a0002c0011t0005	a0001c0006t0001g0276 a0002c0011t0005g0277 a0001c0006t0001g0276 a0002c0011t0005g0277	2	426	0.0047	-152	c.-42 others(19): Show c.-429+1966_-429+2117del	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15			chr22	TogoVar
GLI2_chr2_120730868_120997653	120965378	AGCAGAGG others(145): Show AGCAGAGGGGCACACTCCAGCCAGGATGCAGGTGCTGCAGCAGAGGGGCA CACTCCAGCCGGGATGCAGGTGGTGCAGCAGAGGGGCACACTCCAGCCGG GATGCAGATGCTGCGGCAGAGGGGCACACTCCAGCCGGGATGCAGATGCT GCG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0028 a0003c0018t0028	a0003c0018t0028g0097 a0003c0018t0028g0097	1	160	0.0063	-152	c.644 others(17): Show c.644-3314_644-3163del	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC3_chrX_133530745_133990594	133731430	TTTTTTTC others(145): Show TTTTTTTCTTTGATCATAGAACTTGTAGATGCTACAAAAATACCCATTTA GTATTTGTTTTTCCTTTCTTCACAAAAGGCAGCCATATCTCACTTGCTTA CTTTGCCATATTTCTAACCCTCACTTTTCTATTTTGCTGGTTTGTCTACT ACA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp1 HG02572.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0016 a0001c0002t0005g0060 a0001c0001t0001g0016 a0001c0002t0005g0060	2	152	0.0132	-152	c.103 others(21): Show c.1032+21900_1032+22051del	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	3/7			chrX	TogoVar
GRTP1_chr13_113319163_113369130	113346728	GAGAGCGG others(145): Show GAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGAC CTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGAC CCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCT GAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	288	0.0035	-152	c.466 others(17): Show c.466-1921_466-1770del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GZMM_chr19_539053_554922	540237	CGGGTTTA others(145): Show CGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	398	0.0025	-152	c.-38 others(11): Show c.-3834_-3683del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3815		chr19	TogoVar
GZMM_chr19_539053_554922	540275	CGGTTTAG others(145): Show CGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	398	0.0025	-152	c.-37 others(11): Show c.-3796_-3645del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3777		chr19	TogoVar
IL3RA_chrX_1331785_1387689	1366656	CCGGGTGC others(145): Show CCGGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGG TGAGCGGGGTGCGCGGAGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGC CGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGT GCG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	115	0.0087	-152	c.874 others(17): Show c.874+1409_874+1560del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar

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