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
OPTC_chr1_203489153_203513949	203500071	A A	ACCTCTAC others(403): Show ACCTCTACCACCCACCTCCACCTCCAGCACCCACCCCACCCCTACCACCA CCCACCACCACCACCACCACCACCCACCTACACCACCTACCACTACCACC ACCACCTACCTCCATCACCTACCACCACCACCACCACCCACCTCCACCTC CACCACACACCTCCACCACCTACCACTGCCACCACCACCACCTACCTCCA CCACCACCCACCTCCACCTCCAGCACCCACCTCCACCCCTACCACCACCC ACCACCACCACCACCCACCTCCACCACCTACCACCACCACCACCACCTAC CTCCACCACCACCCACCTCCACCACCACCACCACCCACCTCCACCCCTAC CACCACCACCACCACCCACCTCCACCACCTACCACTGCCACCACCACCAC CTACCTCCACC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18984.hp1 NA18991.hp2 others(1): Show NA18971.hp2 NA18984.hp1 NA18991.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	4	7	0.5714	410	c.732 others(425): Show c.732+223_732+224insCTACCACCCACCTCCACCTCCAGCACCCAC CCCACCCCTACCACCACCCACCACCACCACCACCACCACCCACCTACACC ACCTACCACTACCACCACCACCTACCTCCATCACCTACCACCACCACCAC CACCCACCTCCACCTCCACCACACACCTCCACCACCTACCACTGCCACCA CCACCACCTACCTCCACCACCACCCACCTCCACCTCCAGCACCCACCTCC ACCCCTACCACCACCCACCACCACCACCACCCACCTCCACCACCTACCAC CACCACCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCAC CCACCTCCACCCCTACCACCACCACCACCACCCACCTCCACCACCTACCA CTGCCACCACCACCACCTACCTCCACCCCT	OPTC	ENSG00000188770.10	transcript	ENST00000367222.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(403): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	13	0.0769	410	c.242 others(427): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK2_chr3_196734857_196837647	196811213	T T	TTCCTTCC others(403): Show TTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTC CCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	161	0.0062	410	c.773 others(425): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTCCCCTCCCTTCCCTCCCTCCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALD1_chr10_70473767_70573450	70554949	T T	TCCCCTCC others(403): Show TCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCC CTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCC TCCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTTCC CTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCC TCCCCGTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCC CCTCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCC TCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTC CCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03540.hp2 HG02896.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0125 a0001c0004t0014g0196 a0001c0004t0014g0125 a0001c0004t0014g0196	2	293	0.0068	410	c.226 others(429): Show c.2262+7505_2262+7506insCCTCCCCCTCCTCCCCCTCCCCTCCC CCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCC CTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCT CCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCCTTCCCCCTC CTCCCCCTCCCCTCCCCCTCCTCCCCGTCCTTCCCTCCCCCTCCTCCCCC TCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTC CCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGATT others(403): Show AGGGGATTGTGTGAGGGGGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGAGAAGGGGACTGTG TGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGGTTCCGTGAGAGGA GGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAG AGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTG TGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGAT TGTGTGAGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	337	0.0030	410	c.4-1 others(423): Show c.4-1375_4-1374insCCCCTCACACAATCCCCTCCTCTCACGGAACC CCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTC ACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCC TCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCT CCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACC CCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAC AATCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACCCCCTCCTCTC ACGGAACCCCCCCCCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PCBP3_chr21_45638725_45947450	45815630	G G	GGTGAGTG others(403): Show GGTGAGTGAGTGGTGAGTGGTGAGTGAGTGATGAGTGAGTGGTGAGTGAT GAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGAGTGGTGAG TAGTGAGTGATGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAG TGATGAGTGAGTGGTGAGTGATGAGTGGTGAGTGGTGAGTGATGAGTGAG TGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGG TGAGTGGTGAGTCAGTGGTGAGTGGTGAGTGAGTGATGAGTGATGGGTGA GTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTG GTGAGTGGTGAGTGAGTGGTGAGTAGTGAGTGGTGAGTGGTGAGTGAGTG GTGAGTGGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0098 a0001c0001t0017g0098	1	78	0.0128	410	c.-12 others(431): Show c.-125-34324_-125-34323insAGTGGTGAGTGGTGAGTGAGTGAT GAGTGAGTGGTGAGTGATGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAG TGGTGAGTGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTGGTGAGTGAG TGGTGAGTGGTGAGTGAGTGATGAGTGAGTGGTGAGTGATGAGTGGTGAG TGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGG TGAGTGATGAGTGAGTGGTGAGTGGTGAGTCAGTGGTGAGTGGTGAGTGA GTGATGAGTGATGGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTG GTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTAGTGAGTG GTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(403): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCC TCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0034 a0034	a0034c0056 a0034c0056	a0034c0056t0019 a0034c0056t0019	a0034c0056t0019g0055 a0034c0056t0019g0055	1	81	0.0123	410	c.633 others(427): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(403): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTC CTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0017 a0011c0011t0017	a0011c0011t0017g0020 a0011c0011t0017g0020	1	81	0.0123	410	c.633 others(427): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGG CAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(403): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGAACTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0191 a0001c0004t0001g0191	1	50	0.0200	410	c.129 others(427): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG TTCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(403): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0029 a0001c0011t0002g0029	1	50	0.0200	410	c.129 others(427): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(403): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0230 a0001c0010t0002g0230	1	50	0.0200	410	c.129 others(427): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(403): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTATTCTGAAAAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0023 a0001c0023t0001g0023	1	50	0.0200	410	c.129 others(427): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTTTTCAG AATAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE3A_chr12_20363537_20693583	20612597	C C	CTTACTTA others(403): Show CTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGT AACTATATATAAGTAATATATAAGTAACTATATATAAGTAATATAGTTAC TTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTA TATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATATA GTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGT AACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTA ATATAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATA TAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATAT AAGTAATATAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0086 a0006c0013t0086	a0006c0013t0086g0030 a0006c0013t0086g0030	1	37	0.0270	410	c.101 others(427): Show c.1012-777_1012-776insTAAGTAACTATATATAAGTAATATAGTT ACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAAC TATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATA TAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAA GTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAG TAATATAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTA TATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATAT ATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATATAGTT ACTTATATAAGTAACTATATATAAGTAATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZD2_chr5_31634131_32115932	31906170	T T	TGCCACCA others(403): Show TGCCACCACGCCTGGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAGA TGGGGTTTCACCATGTTAGCCAGAATGGGCTCAATCTCCATTGATTACAG GGATTACAGGCATAAGCCACCACGCCCAGCCTTATTTTATTTTTTTTGAG ATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGGAGTGGTGTGTTCTTGG CTCACTGCAACTTCTGCCTCCCAGGTTCAAGCTATTCTCCAGCCTCAGAC TCCCAAGTAGCCGGGATTACAGGTACATGCCACCACGCCCAGTTAATTTT TGTATTTTTAGTAGAGATGGGGTTTTACTATGTTGGCCAAGTTGGTCCAA ACTCCTGAACTCAAGTGACAACCCGCCTTGGGCTCCCAAAGTGCTGGGAT TACAGGCATGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp2 others(41): Show HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01496.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18964.hp1 NA19085.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0015 a0023	a0001c0001 a0001c0007 a0001c0010 others(15): Show a0001c0001 a0001c0007 a0001c0010 a0001c0022 a0001c0026 a0001c0035 a0001c0050 a0001c0056 a0001c0062 a0002c0002 a0002c0003 a0003c0004 a0004c0006 a0005c0045 a0006c0016 a0008c0018 a0015c0033 a0023c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0035 a0001c0007t0009 a0001c0010t0015 a0001c0022t0001 a0001c0026t0002 a0001c0035t0039 a0001c0050t0036 a0001c0056t0001 a0001c0062t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0018 a0002c0003t0002 a0003c0004t0012 a0004c0006t0007 a0004c0006t0010 a0005c0045t0038 a0006c0016t0001 a0006c0016t0002 a0008c0018t0006 a0015c0033t0007 a0023c0048t0002	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0098 others(41): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0135 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0002g0036 a0001c0001t0003g0008 a0001c0001t0003g0023 a0001c0001t0006g0155 a0001c0001t0008g0107 a0001c0001t0016g0096 a0001c0001t0017g0068 a0001c0001t0035g0140 a0001c0007t0009g0057 a0001c0007t0009g0067 a0001c0007t0009g0181 a0001c0010t0015g0199 a0001c0022t0001g0126 a0001c0026t0002g0116 a0001c0035t0039g0209 a0001c0050t0036g0187 a0001c0056t0001g0092 a0001c0062t0003g0024 a0002c0002t0001g0142 a0002c0002t0002g0089 a0002c0002t0002g0183 a0002c0002t0002g0214 a0002c0002t0018g0042 a0002c0003t0002g0056 a0002c0003t0002g0132 a0002c0003t0002g0141 a0002c0003t0002g0189 a0003c0004t0012g0013 a0004c0006t0007g0202 a0004c0006t0010g0050 a0004c0006t0010g0112 a0005c0045t0038g0060 a0006c0016t0001g0100 a0006c0016t0002g0082 a0008c0018t0006g0061 a0015c0033t0007g0111 a0023c0048t0002g0101	44	133	0.3308	410	c.477 others(429): Show c.477-76977_477-76976insGCCTGGCTAATTTTTTTTTTTTTTTG TATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGGCTCAAT CTCCATTGATTACAGGGATTACAGGCATAAGCCACCACGCCCAGCCTTAT TTTATTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGGA GTGGTGTGTTCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGCTAT TCTCCAGCCTCAGACTCCCAAGTAGCCGGGATTACAGGTACATGCCACCA CGCCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACTATGTTG GCCAAGTTGGTCCAAACTCCTGAACTCAAGTGACAACCCGCCTTGGGCTC CCAAAGTGCTGGGATTACAGGCATGAGCCACCAC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PEX10_chr1_2398974_2417564	2401351	T T	TCCTCCCT others(403): Show TCCTCCCTCCTTCCTGCCGCCTCCTCCCTCCTTCCTGCCTCCTCCTCCCT CCTTCTCCCTCCTTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTC CCTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCCCCTC CTCCCTTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTGCTTC CTCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCC TCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCT CCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTC CCTCCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0044 a0001c0003t0003g0044	1	218	0.0046	410	c.44 others(421): Show c.4414_*4415insGAGGAAGGAGGGAGGAGGAGGGAGGAAGGAGGGA GGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGAG GGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGAGGA GGGAGGAGGGGGAGGAGGGAGGAGGAGGAAGCAGGGAGGAGGAGGGAGGA AGAAGGGAGGAGGGAGGAAGAAGGGAGGAGGGGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGA AGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGAAGGG AGGAGGAGGGAGGAAGGAGGGAGAAGGAGGGAGGAGGAGGCAGGAAGGAG GGAGGAGGCGGCAGGAAGGAGGGAGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2622		chr1	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGCCTAGC others(403): Show TGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTC TGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTG TGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTA GCCTGGCACCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0007 a0013c0019t0007	a0013c0019t0007g0139 a0013c0019t0007g0139	1	320	0.0031	410	c.-10 others(427): Show c.-10+1012_-10+1013insGCCTAGCCTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGG CTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PITPNM3_chr17_6446263_6561555	6455713	G G	GGGGGAAG others(403): Show GGGGGAAGAGGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGG GGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGG AGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAATAGGGGA GGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAATAGGGGAGGGGGAGAGGAGGGAAGAGGGAAGAGGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGCGGAAGAGGGGAAGGGAG GGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAG AGGGGATGGGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0030 a0001c0011t0030	a0001c0011t0030g0145 a0001c0011t0030g0145	1	208	0.0048	410	c.262 others(425): Show c.2620-71_2620-70insTCCCATCCCCTCTTCCCCCTTCCCTCCTCT CCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCCTCCCTTCCCCTCTTCCGC CCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTCCCTC CTCTCCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCC CCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCCTCCC CTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCCCCCT CCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCCCTCC CCTCTTCCCCCTCCCCTCCCCCTCTTCCCC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PNPLA7_chr9_137454952_137555402	137518084	G G	GTCACTCA others(403): Show GTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCACTC TGTCCACTCCATCCCCCACTCACGCACTCACTCCACTCTGTCCACTCCAT CCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACT CCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGCTCACTCCA TCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCTCATTCACTCAC TCCACTCTGCTCACTCCATCCCCCACTCACTGACTCCACTCTGTCCACTC CATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTC ACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGTCCAC TCCATCCCCCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	181	0.0055	410	c.108 others(429): Show c.1084+1832_1084+1833insTGGGGGATGGAGTGGACAGAGTGGAG TGAGTGAGTGGGGGATGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGAT GGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGG AGTCAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGG ATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGT GGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGG GATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAG TGGAGTGAGTGCGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGA GTGAGGGATGGAGTGGACAGAGTGGAGTGAGTGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2123709	G G	GATCATGG others(403): Show GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTAGGGTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02896.hp1 HG00738.hp2 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0211 a0001c0006t0001g0131 a0001c0002t0001g0211 a0001c0006t0001g0131	2	215	0.0093	410	c.335 others(429): Show c.335-11553_335-11552insATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGGGTCACGGCTATAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT ATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(403): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGG AGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCA CTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCG AGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACT CCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACA AGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTT TCACATATTAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	20	0.0500	410	c.479 others(429): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGC AATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGA TTCTCCTGCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCA TGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTT GGCCAGGCTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCT CCCAAAGTGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATAT CATATTTATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRRC2B_chr9_131389086_131505193	131420495	T T	TTCTTTCT others(403): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCCTTCTTTCCTT CTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	170	0.0059	410	c.-51 others(427): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCCTT CTTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420495	T T	TTCTTTCT others(403): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCCTTCTTTCCTT CTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	170	0.0059	410	c.-51 others(427): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCCTT CTTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTPRM_chr18_7562316_8411856	7985342	C C	CGTATATA others(403): Show CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TGTAAATATATACATATACTGGTAGATACGTATGTAAATATATACATATA CTGGTAGATACGTAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTAAATATATACATATACTGGTAGATACGTATATAAATATATACATA TACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATA TAAATATATACATATACTGGTAGATACGTATATAAATATATACATATACT GGTAGATACGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	31	0.0323	410	c.113 others(431): Show c.1132+29928_1132+29929insGTATATAAATATATACATATACTG GTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAAT ATATACATATACTGGTAGATACGTATGTAAATATATACATATACTGGTAG ATACGTATGTAAATATATACATATACTGGTAGATACGTAAATATATACAT ATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTAT ATAAATATATACATATACTGGTAGATACGTAAATATATACATATACTGGT AGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATAT ATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGAT ACGTATATAAATATATACATATACTGGTAGATACGT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
PXMP2_chr12_132682587_132709985	132694348	C C	CAGTTAGT others(403): Show CAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGC CAGTTAGATAGTGAGCGCCCTTAGCCAGTTAGTGAGCGCCCTTAGCCAGT TAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTA GTTAGTGAGCTCCCTGAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTTAG TGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGT GAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGT GAGCGCCCTTGCCAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCT CCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCC CTTAGTCAGTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0133 a0001c0003t0003g0133	1	324	0.0031	410	c.237 others(427): Show c.237-1529_237-1528insTAGTGAGCGCCCTTGCCAGTTAGTTAAG TGAGCGCCCTTAGCCAGTTAGATAGTGAGCGCCCTTAGCCAGTTAGTGAG CGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGC GCCCTTGCCAGTTAGTTAGTGAGCTCCCTGAGCCAGTTAGTGAGCTCCCT TGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA GTCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTA GCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCTCCCTTAGCCAG TTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTT AGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB11FIP3_chr16_420649_528011	504394	C C	CCCCCCCA others(403): Show CCCCCCCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCACC TCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACC CCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACT CCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCT GTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCC ATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTA CCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCAC CTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0203 a0001c0001t0008g0203	1	281	0.0036	410	c.139 others(429): Show c.1396-1125_1396-1124insCACCTCCTCCTGTACCCCCTCACCTC CTCCTGTACCCCCCCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACC CCCCTTGCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCT TGTGCACCCCCTCACCTCCTGTACCCCCCCTCACCTCCTCCTGTACCCGC CTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTG TGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTC ACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGC ACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(403): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGG AGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	30	0.0333	410	c.36 others(421): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAG GAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGG ACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RER1_chr1_2386841_2410436	2401351	T T	TCCTCCCT others(403): Show TCCTCCCTCCTTCCTGCCGCCTCCTCCCTCCTTCCTGCCTCCTCCTCCCT CCTTCTCCCTCCTTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTC CCTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCCCCTC CTCCCTTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTGCTTC CTCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCC TCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCT CCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTC CCTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	224	0.0045	410	c.365 others(425): Show c.365+426_365+427insTCCTGCCGCCTCCTCCCTCCTTCCTGCCTC CTCCTCCCTCCTTCTCCCTCCTTCCTCCCTCCTCCTCCCTTCTTCCTCCC TCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCTCCCTCCT TCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCC TCCCCCCTCCTCCCTTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCT CCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTC CCTCCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCTTCCTCCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGPD5_chr2_109789305_109862705	109794584	G G	GGGGGGGA others(403): Show GGGGGGGAGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGC CTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCCTCGG CCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGG GGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0023 a0002c0002t0003g0023	1	28	0.0357	410	c.72+ others(421): Show c.72+49_72+50insGGGGAGGGGGCGGCGGCGGCGGCCTCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGG CGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCG GCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCC CGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCG GCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCG GGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCG GCGGCCTCGGCCCGGCCGGGGGGCGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF139_chr8_124469880_124493618	124483073	T T	TAAATATA others(403): Show TAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATA TATATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAA TATATATAAATATATATTTAAATATATATATTTAAATATATATTAATATA TATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAA TATATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATA TTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATATTT ATATATATTTTTAAATATATATATATTTATATATATATTTATATATATAT ATTTATATATATATTTTTAAATATATATATATTTATATATATATTTTTAA ATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0008 a0004c0010t0008	a0004c0010t0008g0089 a0004c0010t0008g0089	1	398	0.0025	410	c.182 others(427): Show c.182-2758_182-2757insAAATATATATATTTTTAAATATGTATAT TTAAATTATATAATTTAAATATATATTAATATACATATTTTAATATATAT AATTTAATATATATCTTTAAATATATATAAATATATATTTAAATATATAT ATTTAAATATATATTAATATATATATTTAAAGATATATATTAAATTATAT ATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATAT ACATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATA TTTTTAAATATATATATATTTATATATATTTTTAAATATATATATATTTA TATATATATTTATATATATATATTTATATATATATTTTTAAATATATATA TATTTATATATATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNGTT_chr6_88604897_88968618	88697878	A A	AATATATA others(403): Show AATATATATACATACATACATATATATATATATGAGATATATATATATGA TATATATATGATATATATATATGATTGATATATATATGATATATATATGA TATATATGATATATATATGATATATATATGATATATATATGATATATATA TATGATATATATATGATATATATATATGAAATACATATATGATATATATA TATGAAATACATATATGATATATATATGAAATACATATATGATATATATA TATGAAATACATATATATGATATATATATATGAAATACATATATATGATA TATATATATGAAATACATATATATGATATATATATATGAAATACATATAT ATGATATATATATATGAAATACATATATATGATATATATATATGAAATAC ATATATATGAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0220 a0001c0001t0016g0220	1	218	0.0046	410	c.144 others(431): Show c.1440-19460_1440-19459insATCATATATATGTATTTCATATAT ATATATCATATATATGTATTTCATATATATATATCATATATATGTATTTC ATATATATATATCATATATATGTATTTCATATATATATATCATATATATG TATTTCATATATATATATCATATATATGTATTTCATATATATATATCATA TATGTATTTCATATATATATCATATATGTATTTCATATATATATATCATA TATGTATTTCATATATATATATCATATATATATCATATATATATATCATA TATATATCATATATATATCATATATATATCATATATATCATATATATATC ATATATATATCAATCATATATATATATCATATATATATCATATATATATA TCTCATATATATATATATGTATGTATGTATATATAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(403): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGG ACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG AGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGA GGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0130 a0001c0001t0008g0130	1	39	0.0256	410	c.351 others(429): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477223	G G	GCCCCCTC others(403): Show GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCACAG CCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGT GCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACAC CCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCC CCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCC CACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCG GGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCC CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTC TGACCCCTCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0330 a0002c0003t0001g0330	1	389	0.0026	410	c.727 others(423): Show c.727+67_727+68insTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGG GCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGG TGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGT CAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTG TGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACC CCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTG TGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGA GGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGCAGAGGGTGTGGG GCATCCCCGGGCTGTGGGGTGGAGGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SART1_chr11_65956734_65985137	65971486	A A	AGCTGCTG others(403): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGT GGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0059 a0001c0003t0003g0059	1	338	0.0030	410	c.157 others(429): Show c.1572+3669_1572+3670insCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAG GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTATAAAT others(403): Show TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	255	0.0039	410	c.632 others(427): Show c.632+8246_632+8247insAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(403): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03834.hp1 HG04228.hp1 others(3): Show HG00673.hp2 HG03834.hp1 HG04228.hp1 NA19004.hp2 NA19011.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0201 a0001c0001t0001g0220 others(3): Show a0001c0001t0001g0178 a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0241	6	260	0.0231	410	c.632 others(427): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(403): Show TCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACA CATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCC CGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTC CGCACCCTCAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0263 a0001c0003t0002g0263	1	173	0.0058	410	c.127 others(429): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTG AGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT GTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTG GGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGG TGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(403): Show TCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACA CATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCACACATGGGCCC CGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTC CGCACCCTCAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0191 a0001c0007t0005g0191	1	173	0.0058	410	c.127 others(429): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCT GTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTG AGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT GTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTG GGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGG TGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839759	C C	CACCCTCA others(403): Show CACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGC ACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTT CTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCACACC CTCACCCCAACAGCACACATGGGCCCCGATTTCTCCACACCCTCACCCCA ACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACAC ATGGGCCCCGATTTCTCCACACCCTCACCCCAACAGCACACATGGGCCCC GATTTCTCCGT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	349	0.0029	410	c.127 others(429): Show c.127-22053_127-22052insACGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGTG GAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGTGGAGAAATCG GGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATG TGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTT GGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGG GTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839759	C C	CACCCTCA others(403): Show CACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGC ACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTT CTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCTGCACC CTCACCCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCA ACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACAC ATGGGCCCCGATTTCTCCACACCCTCACCCCAACAGCACACATGGGCCCC GATTTCTCCGT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	349	0.0029	410	c.127 others(429): Show c.127-22053_127-22052insACGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCA GAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAGAAATCG GGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATG TGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCTGTT GGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGG GTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(403): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCAC CCCAACAGCAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02055.hp2 HG00673.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0011 a0001c0004t0002 a0001c0004t0011	a0001c0004t0002g0238 a0001c0004t0011g0119 a0001c0004t0002g0238 a0001c0004t0011g0119	2	22	0.0909	410	c.127 others(429): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(403): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCAC CCCAACGGCAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18981.hp2 HG02165.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0003 a0001c0003t0001 a0001c0007t0003	a0001c0003t0001g0262 a0001c0007t0003g0135 a0001c0003t0001g0262 a0001c0007t0003g0135	2	22	0.0909	410	c.127 others(429): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(403): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCAC CCCAACGGCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG01081.hp2 others(7): Show HG00099.hp1 HG00408.hp1 HG01081.hp2 HG02015.hp2 HG02083.hp2 HG02735.hp1 HG03927.hp2 NA18966.hp1 NA18994.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0005 a0001c0003t0002 a0001c0003t0010 a0001c0004t0004	a0001c0001t0001g0111 a0001c0001t0001g0185 a0001c0001t0001g0258 others(7): Show a0001c0001t0001g0111 a0001c0001t0001g0185 a0001c0001t0001g0258 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0002t0005g0079 a0001c0003t0002g0182 a0001c0003t0002g0188 a0001c0003t0010g0278 a0001c0004t0004g0208	10	30	0.3333	410	c.127 others(429): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SEC62_chr3_169961807_170003373	169989288	C C	CCCAGGCT others(403): Show CCCAGGCTGGTCTGAAACTCCTGACTTCAAGTGATCCTCCAGCATTGGCC CCCCAAAGTGCTGGAATTATAAGATTGTCACCACACCCAGCCATGTTTCA TAGTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCACGCCTGTAACTC CAGCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGTCAGGAGATCGAG GCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAA TTAGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCTACTTCGGAGGCT AAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGA GATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTT CACCATGTTGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(191): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19001.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0036 a0001c0001t0039 a0001c0001t0042 a0001c0003t0013 a0001c0003t0016 a0001c0003t0021 a0001c0003t0031 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0004g0070 a0001c0001t0005g0026 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0009g0001 a0001c0001t0014g0038 a0001c0001t0015g0001 a0001c0001t0018g0034 a0001c0001t0020g0120 a0001c0001t0023g0059 a0001c0001t0024g0092 a0001c0001t0025g0121 a0001c0001t0026g0090 a0001c0001t0027g0003 a0001c0001t0028g0001 a0001c0001t0036g0063 a0001c0001t0039g0069 a0001c0001t0042g0106 a0001c0003t0013g0022 a0001c0003t0016g0031 a0001c0003t0021g0086 a0001c0003t0031g0078 a0003c0005t0001g0001	194	331	0.5861	410	c.730 others(425): Show c.730+936_730+937insGGTCTGAAACTCCTGACTTCAAGTGATCCT CCAGCATTGGCCCCCCAAAGTGCTGGAATTATAAGATTGTCACCACACCC AGCCATGTTTCATAGTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCA CGCCTGTAACTCCAGCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGT CAGGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTA AAAATACAAAAATTAGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCT ACTTCGGAGGCTAAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATT GCAGTGAGCTGAGATACCACCACACCTGGCTAATTTTTGTATTTTTAGTA GAGATGGGGTTTCACCATGTTGGCCAGGCT	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC62_chr3_169961807_170003373	169989288	C C	CCTAGGCT others(403): Show CCTAGGCTGGTCTGAAACTCCTGACTTCAAGTGATCCTCCAGCATTGGCC CCCCAAAGTGCTGGAATTATAAGATTGTCACCACACCCAGCCATGTTTCA TAGTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCACGCCTGTAACTC CAGCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGTCAGGAGATCGAG GCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAA TTAGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCTACTTCGGAGGCT AAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGA GATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTT CACCATGTTGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp1 HG03486.hp2 HG02145.hp2 HG02970.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0066 a0001c0001t0010g0072 a0001c0001t0010g0087 a0001c0001t0010g0066 a0001c0001t0010g0072 a0001c0001t0010g0087	3	140	0.0214	410	c.730 others(425): Show c.730+930_730+931insTAGGCTGGTCTGAAACTCCTGACTTCAAGT GATCCTCCAGCATTGGCCCCCCAAAGTGCTGGAATTATAAGATTGTCACC ACACCCAGCCATGTTTCATAGTTAAAAAGCAATATAGAGCTGGGCACAGT GGCTCACGCCTGTAACTCCAGCAATTTGGGAGGCCGAGGTGGGTGGATGA CAAGGTCAGGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCT CTACTAAAAATACAAAAATTAGCTGGGTTTCGTGGCGTGCGCCTGTAATC CCAGCTACTTCGGAGGCTAAGGCAGGAGAATGGCTTGAACCCGGGAGGCA GAGATTGCAGTGAGCTGAGATACCACCACACCTGGCTAATTTTTGTATTT TTAGTAGAGATGGGGTTTCACCATGTTGGC	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC62_chr3_169961807_170003373	169989290	C C	CAGGCTGA others(403): Show CAGGCTGATCTGAAACTCCTGACTTCAAGTGATCCTCCAGCATTGGCCCC CCAAAGTGCTGGAATTATAAGATTGTCACCACACCCAGCCATGTTTCATA GTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCACGCCTGTAACTCCA GCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGTCAGGAGATCGAGGC CATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATT AGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCTACTTCGGAGGCTAA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGA TACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCA CCATGTTGGCT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19077.hp1 NA19084.hp1 NA18963.hp2 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	3	200	0.0150	410	c.730 others(425): Show c.730+936_730+937insGATCTGAAACTCCTGACTTCAAGTGATCCT CCAGCATTGGCCCCCCAAAGTGCTGGAATTATAAGATTGTCACCACACCC AGCCATGTTTCATAGTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCA CGCCTGTAACTCCAGCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGT CAGGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTA AAAATACAAAAATTAGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCT ACTTCGGAGGCTAAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATT GCAGTGAGCTGAGATACCACCACACCTGGCTAATTTTTGTATTTTTAGTA GAGATGGGTTTTCACCATGTTGGCTAGGCT	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC62_chr3_169961807_170003373	169989290	C C	CAGGCTGG others(403): Show CAGGCTGGTCTGAAACTCCTGACTTCAAGTGATCCTCCAGCATTGGCCCC CCAAAGTGCTGGAATTATAAGATTGTCACCACACCCAGCCATGTTTCATA GTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCACGCCTGTAACTCCA GCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGTCAGGAGATCGAGGC CATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATT AGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCTACTTCGGAGGCTAA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGA TACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCA CCATGTTGGCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp1 others(48): Show HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01243.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02257.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03831.hp2 HG03927.hp2 NA18940.hp2 NA18945.hp1 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18969.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19075.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0019 a0001c0001t0032 others(7): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0004 a0001c0002t0029 a0001c0002t0030 a0002c0004t0003	a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0138 others(22): Show a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0019g0149 a0001c0001t0032g0137 a0001c0001t0033g0068 a0001c0001t0034g0002 a0001c0001t0035g0002 a0001c0002t0004g0006 a0001c0002t0004g0030 a0001c0002t0004g0080 a0001c0002t0029g0006 a0001c0002t0030g0079 a0002c0004t0003g0002 a0002c0004t0003g0151	51	248	0.2056	410	c.730 others(425): Show c.730+936_730+937insGGTCTGAAACTCCTGACTTCAAGTGATCCT CCAGCATTGGCCCCCCAAAGTGCTGGAATTATAAGATTGTCACCACACCC AGCCATGTTTCATAGTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCA CGCCTGTAACTCCAGCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGT CAGGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTA AAAATACAAAAATTAGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCT ACTTCGGAGGCTAAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATT GCAGTGAGCTGAGATACCACCACACCTGGCTAATTTTTGTATTTTTAGTA GAGATGGGGTTTCACCATGTTGGCTAGGCT	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC62_chr3_169961807_170003373	169989290	C C	CAGGCTGG others(403): Show CAGGCTGGTCTGAAACTCCTGACTTCAAGTGATCCTCCAGCATTGGCCCC CCAAAGTGCTGGAATTATAAGATTGTCACCACACCCAGCCATGTTTCATA GTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCACGCCTGTAACTCCA GCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGTCAGGAGATCGAGGC CATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATT AGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCTACTTCGGAGGCTAA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGA TACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCA CCATGTTGGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00642.hp1 others(80): Show HG00140.hp1 HG00597.hp1 HG00642.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18985.hp1 NA18987.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19002.hp2 NA19043.hp2 NA19059.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0022 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 others(36): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0006g0008 a0001c0001t0006g0014 a0001c0001t0006g0054 a0001c0001t0007g0005 a0001c0001t0007g0082 a0001c0001t0007g0084 a0001c0001t0011g0076 a0001c0001t0011g0077 a0001c0001t0011g0088 a0001c0001t0012g0015 a0001c0001t0017g0027 a0001c0001t0022g0065 a0001c0001t0037g0032 a0001c0001t0038g0130 a0001c0001t0040g0074 a0001c0001t0041g0015	83	280	0.2964	410	c.730 others(425): Show c.730+936_730+937insGGTCTGAAACTCCTGACTTCAAGTGATCCT CCAGCATTGGCCCCCCAAAGTGCTGGAATTATAAGATTGTCACCACACCC AGCCATGTTTCATAGTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCA CGCCTGTAACTCCAGCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGT CAGGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTA AAAATACAAAAATTAGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCT ACTTCGGAGGCTAAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATT GCAGTGAGCTGAGATACCACCACACCTGGCTAATTTTTGTATTTTTAGTA GAGATGGGTTTTCACCATGTTGGCTAGGCT	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(403): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCC CAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTAAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGG CCCCCCTGCCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0360 a0002c0002t0003g0360	1	203	0.0049	410	c.284 others(429): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SKI_chr1_2223319_2315213	2281178	G G	GGACAGGC others(403): Show GGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGAC GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG GCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAG ACACGTGAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0047 a0001c0010t0047	a0001c0010t0047g0051 a0001c0010t0047g0051	1	97	0.0103	410	c.970 others(429): Show c.970-21791_970-21790insCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAAGACAGG CGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG AGCGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281703	C C	CGGCGGCG others(403): Show CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATC TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA GGCGGCGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA TCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAG AGAGCGGACACCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG AGAAGACAGGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0190 a0002c0002t0002g0191	2	309	0.0065	410	c.970 others(429): Show c.970-21273_970-21272insCGGCGGAGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA GAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGA CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA GAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACA GGTGGTGGCGGAGATCTTCAGAGAGCGGACACCCGAGAGGACAGGCGGCG GCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGA TCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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