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
NCAPG2_chr7_158626169_158709804	158668214	C C	CCGTTACC others(431): Show CCGTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCC TAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACA ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACC CACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	378	0.0027	438	c.147 others(457): Show c.1479+3299_1479+3300insCGGGCGGAGGGACCCAGTTGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGAC CCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGC GGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAG TAGTGGGTAACG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NGEF_chr2_232873701_233018256	232900746	T T	TCACATTC others(431): Show TCACATTCACACACACATGCTCTGTCACTCATATACACGTTCACTCACAT TCACTCACACACACGCTCTCACAGTCACTCATATACACGTTCACTCACAT TCACTTAGACACATGCTCTCACAGTCACTCATATACACGTTCACTCACAT TCACTCACACACACACTCTCACAGTCACTCATATACACGTTCACTCACAT TCACTCACACACACACTCTCACAGTCACTCATATACACGTTCACTCATTC ACACACACACGCTCTCACAGTCACTCATATACACGTTCACTCACATTCAC TCACACACACACGCTCTCACTCATATACACGTTCACTCACATTCACTCAC ACACACACGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACTC ACACACACACGCTCTCTCAGTCACTCATATACACGTTCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0022 a0004c0016t0022	a0004c0016t0022g0006 a0004c0016t0022g0006	1	362	0.0028	438	c.829 others(455): Show c.829-5831_829-5830insTGAACGTGTATATGAGTGACTGAGAGAG CGTGTGTGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAG AGCGTGTGTGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTGAGAGCG TGTGTGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAGAG CGTGTGTGTGTGAATGAGTGAACGTGTATATGAGTGACTGTGAGAGTGTG TGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAGAGTGTG TGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAGAGCATG TGTCTAAGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAGAGCGTG TGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACAGAGCATGTGTG TGTGAATGTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(431): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTA TACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATAC AGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATA CACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATA TACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATA TATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0233 a0001c0001t0009g0233	1	362	0.0028	438	c.-75 others(457): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATA CAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAG TATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACT GCATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTAT ACATACATACAGTATACATACATACAGTATACATGCTGTACACAGTATAC ATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149050	C C	CACCACAC others(431): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0276 a0003c0011t0001g0276	1	294	0.0034	438	c.901 others(453): Show c.901+193_901+194insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NPEPPS_chr17_47526108_47628276	47574051	T T	TAGAAAAT others(431): Show TAGAAAATATTTAGAACTGGATTAAGAAAATGTGGCACATATACACCATG GAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGAC ATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAA AAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGA TCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATG ACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAA CTAACCTGCACAATGTGCACATGTACCCTGAAACTTAGAGTATAATAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	342	0.0029	438	c.418 others(455): Show c.418+4575_418+4576insGATTAAGAAAATGTGGCACATATACACC ATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTGAAACTTAGAGTATAATA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATA TTTAGAACTG	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(431): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGA AAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAG AAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGG GGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAG GGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGA GGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0155 a0001c0001t0008g0155	1	344	0.0029	438	c.154 others(455): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCA TCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCC CCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(431): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGG AGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAG AAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGG GGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAG GGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGA GGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0014 a0001c0001t0097g0014	1	344	0.0029	438	c.154 others(455): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCC CCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NXN_chr17_794310_984776	809871	G G	GTGTGAGC others(431): Show GTGTGAGCGGCGGGCACCTTACGAGCCACTGTGAGCGGCGGGCACCTTAC GAGTCCGTGTGAGCGGCGGGCACCTTACGAGTCCGTGTGAGCGGCGGGCA CGTTACGAGCCAGTGTGAGTGGCGTGTACGTTACGAGTCTGTGAGTGGCG TGCACGTTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCCGT ATGAGCGGCGGGCACCTTACGAGTCCGTGTGAGCGGCGGGCACGTTACGA GCCAGTGTGAGTGGCGTGTACGTTACGAGTCTGTGAGCGGCGTGCACGTT ACGAGTCTGTGAGCGGCGTGCACGTTAAGAGTCCGTGTGAGTGGCGTGCA CGTTACGAGTCCCTGTGAGTGGCGTGCACGTTACGAGTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	242	0.0041	438	c.821 others(455): Show c.821-4625_821-4624insGACTCGTAACGTGCACGCCACTCACAGG GACTCGTAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCGCT CACAGACTCGTAACGTGCACGCCGCTCACAGACTCGTAACGTACACGCCA CTCACACTGGCTCGTAACGTGCCCGCCGCTCACACGGACTCGTAAGGTGC CCGCCGCTCATACGGACTCGTAACGTGCACGCCACTCACAGACTCGTAAC GTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACTCACACGGACT CTTAACGTGCACGCCACTCACAGACTCGTAACGTACACGCCACTCACACT GGCTCGTAACGTGCCCGCCGCTCACACGGACTCGTAAGGTGCCCGCCGCT CACACGGACTCGTAAGGTGCCCGCCGCTCACAGTGGCTCGTAAGGTGCCC GCCGCTCACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
ODF3_chr11_191761_205258	194833	A A	ATGGGGAC others(431): Show ATGGGGACATCAGGAACACACTCGGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAG GGACACACAAATGGGGACATCAGGAACACACTCGGGGCCACAGCCACACA CACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGT CCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAGGGCCACAG CCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACATGTG TGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACT CGGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAG GAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	388	0.0026	438	c.-22 others(449): Show c.-2222_-2221insTGGGGACATCAGGAACACACTCGGGGCCACAGCC ACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCA AAAGTCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGG GGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAG CACACGTGCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGG AACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACT CAAGGAGCACATGTGTGAAAGTCCCCCACAGAGGGACACACAAATGGGGA CATCAGGAACACACTCGGGGCCACAGCCACACACACAGACCCACATACAG AGGATCCCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGGCACA CAAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1927		chr11	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(431): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGG AGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02040.hp1 HG00423.hp1 HG02040.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0247 a0002c0002t0001g0232 a0001c0001t0003g0247 a0002c0002t0001g0232	2	328	0.0061	438	c.-12 others(455): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197859	G G	GGGAGAGG others(431): Show GGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03669.hp1 HG01517.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0027 a0001c0001t0003 a0002c0002t0027	a0001c0001t0003g0218 a0002c0002t0027g0255 a0001c0001t0003g0218 a0002c0002t0027g0255	2	328	0.0061	438	c.-12 others(455): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197859	G G	GGGAGAGG others(431): Show GGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	328	0.0031	438	c.-12 others(455): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(431): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCCCCCTCACCCTG CACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCA CCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	360	0.0028	438	c.36 others(449): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCCCCCTCACCCTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCT TCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCAC CCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(431): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCA CCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00639.hp1 others(46): Show HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG02015.hp1 HG02071.hp1 HG02074.hp2 HG02135.hp2 HG02148.hp2 HG02559.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18943.hp1 NA18950.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18987.hp1 NA19000.hp1 NA19004.hp1 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19085.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0177 others(44): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0328 a0001c0002t0001g0100 a0001c0002t0001g0331	49	360	0.1361	438	c.36 others(449): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCT TCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCAC CCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(431): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCTGCACC TCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCATCC TTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATC CTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCCCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCA CCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	360	0.0028	438	c.36 others(449): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCT GCACCTCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACT CACCCTCCACCCCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCT TCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCAC CCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(431): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTGCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCA CCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	360	0.0028	438	c.36 others(449): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTGCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCT TCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCAC CCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741430	C C	CGGGGGGG others(431): Show CGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGGCTCGC GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0243 a0001c0001t0009g0243	1	358	0.0028	438	c.143 others(453): Show c.143-231_143-230insGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTG GCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGC GGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976810	G G	GCAACCCC others(431): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCCGCCA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0188 a0001c0034t0001g0188	1	408	0.0025	438	c.215 others(455): Show c.2150-187_2150-186insTGGCGGGGGGCAGGCGGTTCCCGGGGTT GGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTC GGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTT CCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977160	C C	CCAACCCC others(431): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	408	0.0025	438	c.215 others(455): Show c.2150-537_2150-536insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTT CCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977809	A A	ACTCCCCC others(431): Show ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACCACC CCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0018 a0009c0013t0018	a0009c0013t0018g0209 a0009c0013t0018g0209	1	408	0.0025	438	c.214 others(457): Show c.2149+1071_2149+1072insGAGTGGGAGGCGGTTCCCGGGGTTGG CGGGGTGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGT GGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTC TCGGGGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTGTGTG others(431): Show TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGG TGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0023 a0002c0001t0023	a0002c0001t0023g0093 a0002c0001t0023g0093	1	408	0.0025	438	c.-10 others(453): Show c.-10+998_-10+999insCTGGCTAGCCTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGG CTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGT GCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGC CTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGT GTGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKP3_chr11_389209_409908	401787	C C	CCCCGCTC others(431): Show CCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCA CCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCG GACCCTGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGA CCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCG CTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCA CACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCC GGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCC CCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	216	0.0046	438	c.173 others(457): Show c.1737+1085_1737+1086insGCTCACCCCCGACCCGCTCACCCCCG ACCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCC GCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCA CCCCCGACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCGCTCACAC CCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGA CCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTC ACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCG GGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGG CCCCGCTCACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401787	C C	CCCGCTCA others(431): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCCGACCCGCTCACCCCG GACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGA CCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCG CTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCA CACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCC GGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCC CCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	216	0.0046	438	c.173 others(457): Show c.1737+1084_1737+1085insGCTCACCCCGGGCCCCGCTCACACCC GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCA CCCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTCACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCG ACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCT CACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCC GGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCG GCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	976810	G G	GCAACCCC others(431): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	422	0.0024	438	c.22 others(449): Show c.2235_*2236insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCC GCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		946		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976810	G G	GCAACCCC others(431): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	422	0.0024	438	c.22 others(449): Show c.2235_*2236insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCC GCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		946		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977809	A A	ACTCCCCC others(431): Show ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACCACC CCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0010 a0010	a0010c0038 a0010c0038	a0010c0038t0034 a0010c0038t0034	a0010c0038t0034g0121 a0010c0038t0034g0121	1	422	0.0024	438	c.32 others(449): Show c.3234_*3235insCTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAA CCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCA ATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCC ACTC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1945		chr1	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(431): Show GAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAG AAAAAATTTATGCATATATATGTATACATATGCCAGAAAAACACTATGCT CTTTTATGTAACTGTTCGTATAACTGGATAATTACCAGGCCGGACGCAGT GGCTCACCCTTGTAAACCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCA ATTGAGGTCAGGAGTTCTAGACCAGCCTAGCCAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGTGCATGCCTGTAA TCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAGG CAGAGGCTGATGCAGGAGAATAGCTTGAGCCTGAGAGGCAGAGGTTGCAG TGAGCCAAGACGGCACCACTGCACTCCAATCTGGGCAAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	390	0.0026	438	c.-9- others(453): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCAT CAGCCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCTCAGCCTCCTGAG TAGCTGAGATTACAGGCATGCACCACCACGCCCAGCTACTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGGTCTAGAACTCCT GACCTCAATTGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGTTTACAA GGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTTATACGAACAGTT ACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATACATATATATGCAT AAATTTTTTCTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTGAGACAGGGT CTCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
RAD21L1_chr20_1221044_1260876	1258613	C C	CAAACACA others(431): Show CAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCC CTCTTTTATAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGA TTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCT TCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAA AGCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATCTTCCCTCTTTTCTAA TACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTT CCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACT GATTTGGGATCTTTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTT CTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0012 a0004c0011t0001g0012	1	364	0.0028	438	c.41 others(449): Show c.4156_*4157insAAACACATAAAGCTCTGTTTCCTTCTAGGTAACT GATTTGAGATCTTCCCTCTTTTATAATATAAACACATAAAGCTCTGTTTC CTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACAT AAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCT AATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATC TTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAA CTGATTTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTT TCCTTCTAGGTAACTGATTTGGGATCTTTCTTTTCTAATATAAACACATA AAGCTCTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTA ATAT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2738		chr20	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(431): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATATTAATATATATTTAAATATATATATTTAAATATATATT AATATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTA TATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATA TATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATAT ATATTTATATATATATTTTTATATATATATATTTATATATATATTTTTAT ATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG03453.hp2 HG02886.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0170 a0001c0002t0001g0047 a0001c0002t0001g0170	3	408	0.0074	438	c.182 others(455): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATATTAATATATATTTAAAT ATATATATTTAAATATATATTAATATATATATTTAAAGATATATATTAAA TTATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTT AAATATACATATTTAAAAATATATATATTTAAATATATATATTTTTAATA TATATATTTTTAAATATATATATATTTATATATATATTTTTATATATATA TATTTATATATATATTTTTATATATATATATTTATATATATATTTTTAAA TATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(431): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATATTAATATATATTTAAATATATATATTTAAATATATATT AATATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTA TATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATA TATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATAT ATATTTATATATATATTTTTATATATATATATTTATATATATTTTTTTAT ATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp1 NA21309.hp1 HG02559.hp2 HG02970.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	3	408	0.0074	438	c.182 others(455): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATATTAATATATATTTAAAT ATATATATTTAAATATATATTAATATATATATTTAAAGATATATATTAAA TTATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTT AAATATACATATTTAAAAATATATATATTTAAATATATATATTTTTAATA TATATATTTTTAAATATATATATATTTATATATATATTTTTATATATATA TATTTATATATATTTTTTTATATATATATATTTATATATATATTTTTAAA TATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(431): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACATACATATTTATACATATATATGTA TAAATACATACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACGTATTTATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA18947.hp2 NA19011.hp2 HG00673.hp1 NA18947.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0219 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0001g0219 a0002c0002t0003g0010 a0002c0002t0003g0011	3	232	0.0129	438	c.43 others(449): Show c.4319_*4320insATATGTATATGTATTTATACATATATGTATAAAT ATGTATATGTATTTATACATATATGTATAAATACGTACGTATTTATACAT ATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGT ACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATAT ATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTATGT ATTTATACATATATATGTATAAATATGTATGTATTTATACATATATATGT ATAAATATGTATGTATTTATACATATATATGTATAAATATGTATGTATTT ATACATATATATGTATAAATATGTATGTATACATATATGTATAAATATGT ATGTATTTATACATATATGTATTAATACGTATTTATACATATATGTATTA ATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(431): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACATACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACATATTTATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0013 a0002c0002t0003g0013	1	232	0.0043	438	c.43 others(449): Show c.4319_*4320insATATGTATATGTATTTATACATATATGTATAAAT ATGTATATGTATTTATACATATATGTATAAATATGTACGTATTTATACAT ATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGT ACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATAT ATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGT ATTTATACATATATATGTATAAATATGTATGTATTTATACATATATATGT ATAAATATGTATGTATTTATACATATATATGTATAAATATGTATGTATTT ATACATATATATGTATAAATATGTATGTATACATATATGTATAAATATGT ATGTATTTATACATATATGTATTAATACGTATTTATACATATATGTATTA ATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(431): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACATATTTATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	232	0.0043	438	c.43 others(449): Show c.4319_*4320insATATGTATATGTATTTATACATATATGTATAAAT ATGTATATGTATTTATACATATATGTATAAATATGTACGTATTTATACAT ATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGT ACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATAT ATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGT ATTTATACATATATATGTATAAATATGTACGTATTTATACATATATATGT ATAAATATGTATGTATTTATACATATATATGTATAAATATGTATGTATTT ATACATATATATGTATAAATATGTATGTATACATATATGTATAAATATGT ATGTATTTATACATATATGTATTAATACGTATTTATACATATATGTATTA ATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SCGB1C1_chr11_188078_199575	194833	A A	ATGGGGAC others(431): Show ATGGGGACATCAGGAACACACTCGGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAG GGACACACAAATGGGGACATCAGGAACACACTCGGGGCCACAGCCACACA CACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGT CCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAGGGCCACAG CCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACATGTG TGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACT CGGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAG GAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	354	0.0028	438	c.38 others(447): Show c.383_*384insTGGGGACATCAGGAACACACTCGGGGCCACAGCCAC ACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCAAA AGTCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGGGG CCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCA CACGTGCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAA CACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCA AGGAGCACATGTGTGAAAGTCCCCCACAGAGGGACACACAAATGGGGACA TCAGGAACACACTCGGGGCCACAGCCACACACACAGACCCACATACAGAG GATCCCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACA AG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		259		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288627	C C	CCGTGTCT others(431): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0038	1	290	0.0035	438	c.166 others(455): Show c.1662+591_1662+592insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288793	C C	CCGTGTCT others(431): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	290	0.0035	438	c.166 others(455): Show c.1662+757_1662+758insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHANK1_chr19_50654255_50724802	50679013	A A	ATGGGGAG others(431): Show ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGA GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAGTGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATG GGGAGGGGTCAAGATGATGGGGAGGGGGTCAGGGTGATGGGGAGGGGTCA GGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGA GGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	316	0.0032	438	c.257 others(457): Show c.2578-6900_2578-6899insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCCTCCCCATCAT CTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCC CCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACACTGA CCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATC ACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCCCT CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTT GACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIGIRR_chr11_400716_419999	401787	C C	CCCCGCTC others(431): Show CCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCA CCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCG GACCCTGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGA CCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCG CTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCA CACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCC GGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCC CCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	242	0.0041	438	c.41 others(449): Show c.4108_*4109insTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTG AGCGGGGCGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGA GCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCA GGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTC GGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTG TGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAG CGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3928		chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35248646	G G	GATTACTA others(431): Show GATTACTAGCAGTGCATGGATCACCTGGGGATTACTACTGGTGCATGGAT CACCAGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTAGCAGT GCATGGATCACCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTA CTAGCAGTGCATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACCA GGGGATTACTAGCGGTGCATGGATCACCAGGGGATTACTAGCAGTGCATG GATCACCTGGGGATTACTAGTGGTGCATGGATCACCTGGGGATTACTAGC AGTGCATGGATCACCTGGGGATTACTACTGGTGCATGGATCACCAGGTGA TTACTAGTGCTACATGGATCACCAGGGGATTACTAGCAGTGCATGGATCA CCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00639.hp1 others(42): Show HG00099.hp1 HG00597.hp1 HG00639.hp1 HG01074.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02738.hp2 HG02965.hp1 HG03471.hp1 HG03710.hp1 HG04184.hp1 HG04184.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18955.hp2 NA18961.hp1 NA18969.hp1 NA18972.hp1 NA18978.hp2 NA18985.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA19002.hp1 NA19005.hp1 NA19010.hp1 NA19012.hp1 NA19062.hp1 NA19066.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0008 a0001c0002t0005 a0001c0002t0008 others(11): Show a0001c0001t0008 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0075 a0001c0002t0082 a0001c0004t0038 a0001c0004t0052 a0001c0004t0081 a0001c0009t0005	a0001c0001t0008g0130 a0001c0001t0008g0160 a0001c0002t0005g0002 others(42): Show a0001c0001t0008g0130 a0001c0001t0008g0160 a0001c0002t0005g0002 a0001c0002t0005g0005 a0001c0002t0005g0015 a0001c0002t0005g0017 a0001c0002t0005g0022 a0001c0002t0005g0027 a0001c0002t0005g0036 a0001c0002t0005g0043 a0001c0002t0005g0050 a0001c0002t0005g0054 a0001c0002t0005g0056 a0001c0002t0005g0063 a0001c0002t0005g0078 a0001c0002t0005g0092 a0001c0002t0008g0121 a0001c0002t0008g0146 a0001c0002t0008g0147 a0001c0002t0008g0148 a0001c0002t0008g0156 a0001c0002t0008g0159 a0001c0002t0008g0164 a0001c0002t0008g0165 a0001c0002t0008g0174 a0001c0002t0008g0177 a0001c0002t0008g0196 a0001c0002t0011g0223 a0001c0002t0011g0230 a0001c0002t0011g0231 a0001c0002t0011g0242 a0001c0002t0011g0256 a0001c0002t0011g0266 a0001c0002t0011g0279 a0001c0002t0053g0016 a0001c0002t0054g0060 a0001c0002t0055g0003 a0001c0002t0056g0080 a0001c0002t0075g0132 a0001c0002t0082g0205 a0001c0004t0038g0273 a0001c0004t0038g0282 a0001c0004t0052g0079 a0001c0004t0081g0216 a0001c0009t0005g0070	45	306	0.1471	438	c.12 others(451): Show c.12247_*12248insAATCCCCTGGTGATCCATGCACTGCTAGTAAT CCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGTAGCA CTAGTAATCACCTGGTGATCCATGCACCAGTAGTAATCCCCAGGTGATCC ATGCACTGCTAGTAATCCCCAGGTGATCCATGCACCACTAGTAATCCCCA GGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGCACCGCTAGT AATCCCCTGGTGATCCATGCACCACTAGTAATCCCCTGGTGATCCATGCA CTGCTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGA TCCATGCACTGCTAGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCA CCTGGTGATCCATGCACCAGTAGTAATCCCCAGGTGATCCATGCACTGCT AGTAAT	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding		2558		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(431): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGGGGCGGGA GGGGAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGG GGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGC GGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGG AGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGG CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGG GAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	222	0.0045	438	c.914 others(457): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCCT CCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCC CTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCC CGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCC CCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGC CTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCC TCCCCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCC CTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(431): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGC GGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GCGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGG GCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGG GAGGGGGAGGAGGCGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGCGGGA GGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGGG GCCGGAGGGGGAGGAGGCGGGGGGCGGGGGGGGCGGGAGGGGAAGGAGGC GGGGGGGGCGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGG CGGGAGGGGGAGGAAGCGGGGGGGCGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0208 a0001c0001t0058g0208	1	222	0.0045	438	c.914 others(457): Show c.914-32089_914-32088insCCTCCCGCCCCCCCGCCCCCCCGCTT CCTCCCCCTCCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCC CCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCCGCCCCCCGCCTC CTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCGCCTCCTCCCCCTCCCGCGCCCCCCG CCTCCTCCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTC CTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCT CCCCCTCCCGCGCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCC CTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(431): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCC TCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC ACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0076 a0001c0004t0004g0076	1	160	0.0063	438	c.688 others(455): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCC TCCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC6A13_chr12_215622_267836	239143	T T	TGCTCTAC others(431): Show TGCTCTACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTAC CACGTCCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCA CACCATTTCCCTCAGCCACATGCTCTACCACGTCCACCCTGTTCCCTGCC CCTTCAGCCACGTGCTCTACCACGTCCACCCTGTTCCCTGCACACATGGG GTGTGTTGGATCCATTCCCACACCATTTCCCTCAGCCACATGCTCTACCA CGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTACCACGTCCACC CTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCACACCATTCCC TTCAGCCACCGGCTCTACCACGTCCACCCTGTTCCCTGCACACGTGGGGT GTGTTGGATCCATTCCCACACCATTTCCCTCAGCCACCG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	442	0.0023	438	c.479 others(455): Show c.479-1134_479-1133insCGGTGGCTGAGGGAAATGGTGTGGGAAT GGATCCAACACACCCCACGTGTGCAGGGAACAGGGTGGACGTGGTAGAGC CGGTGGCTGAAGGGAATGGTGTGGGAATGGATCCAACACACCCCACGTGT GCAGGGAACAGGGTGGACGTGGTAGAGCAGGTGGCTGAAGGGGCAGGGAA CAGGGTGGACGTGGTAGAGCATGTGGCTGAGGGAAATGGTGTGGGAATGG ATCCAACACACCCCATGTGTGCAGGGAACAGGGTGGACGTGGTAGAGCAC GTGGCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATGTGGCTGA GGGAAATGGTGTGGGAATGGATCCAACACACCCCACGTGTGCAGGGAACA GGGTGGACGTGGTAGAGCAGGTGGCTGAAGGGGCAGGGAACAGGGTGGAC GTGGTAGAGC	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	239143	T T	TGCTCTAC others(431): Show TGCTCTACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTAC CACGTCCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCA CACCATTTCCCTCAGCCACATGCTCTACCACGTCCACCCTGTTCCCTGCC CCTTCAGCCACGTGCTCTACCACGTCCACCCTGTTCCCTGCACACATGGG GTGTGTTGGATCCATTCCCACACCATTTCCCTCAGCCACCTGCTCTACCA CGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTACCACGTCCACC CTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCACACCATTCCC TTCAGCCACCGGCTCTACCACGTCCACCCTGTTCCCTGCACACGTGGGGT GTGTTGGATCCATTCCCACACCATTTCCCTCAGCCACCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG02027.hp1 others(7): Show HG00438.hp1 HG00544.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp2 NA18954.hp2 NA18994.hp2 NA19054.hp1 NA19083.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0037 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0090	10	442	0.0226	438	c.479 others(455): Show c.479-1134_479-1133insCGGTGGCTGAGGGAAATGGTGTGGGAAT GGATCCAACACACCCCACGTGTGCAGGGAACAGGGTGGACGTGGTAGAGC CGGTGGCTGAAGGGAATGGTGTGGGAATGGATCCAACACACCCCACGTGT GCAGGGAACAGGGTGGACGTGGTAGAGCAGGTGGCTGAAGGGGCAGGGAA CAGGGTGGACGTGGTAGAGCAGGTGGCTGAGGGAAATGGTGTGGGAATGG ATCCAACACACCCCATGTGTGCAGGGAACAGGGTGGACGTGGTAGAGCAC GTGGCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATGTGGCTGA GGGAAATGGTGTGGGAATGGATCCAACACACCCCACGTGTGCAGGGAACA GGGTGGACGTGGTAGAGCAGGTGGCTGAAGGGGCAGGGAACAGGGTGGAC GTGGTAGAGC	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	239143	T T	TGCTCTAC others(431): Show TGCTCTACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTAC CACGTCCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCA CACCATTTCCCTCAGCCACATGCTCTACCACGTCCACCCTGTTCCCTGCC CCTTCAGCCACGTGCTCTACCACGTCCACCCTGTTCCCTGCACACGTGGG GTGTGTTGGATCCATTCCCACACCATTTCCCTCAGCCACCTGCTCTACCA CGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTACCACGTCCACC CTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCACACCATTCCC TTCAGCCACCGGCTCTACCACGTCCACCCTGTTCCCTGCACACGTGGGGT GTGTTGGATCCATTCCCACACCATTTCCCTCAGCCACCG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	442	0.0023	438	c.479 others(455): Show c.479-1134_479-1133insCGGTGGCTGAGGGAAATGGTGTGGGAAT GGATCCAACACACCCCACGTGTGCAGGGAACAGGGTGGACGTGGTAGAGC CGGTGGCTGAAGGGAATGGTGTGGGAATGGATCCAACACACCCCACGTGT GCAGGGAACAGGGTGGACGTGGTAGAGCAGGTGGCTGAAGGGGCAGGGAA CAGGGTGGACGTGGTAGAGCAGGTGGCTGAGGGAAATGGTGTGGGAATGG ATCCAACACACCCCACGTGTGCAGGGAACAGGGTGGACGTGGTAGAGCAC GTGGCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATGTGGCTGA GGGAAATGGTGTGGGAATGGATCCAACACACCCCACGTGTGCAGGGAACA GGGTGGACGTGGTAGAGCAGGTGGCTGAAGGGGCAGGGAACAGGGTGGAC GTGGTAGAGC	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(431): Show ACACACCACACATACACACACACACACATACACACACACACACACATACA CACCACACACACATACCCACACACACACATACATACACACACACCACACA CCCCCACACACATACACACACACAAAAATACACATACACACAAACACACA AATACACACATACACACAAAAATACACATACACACAAACACACAAATACA CACACAGAAATACACATACATACACACACACACCCACATACCCACACACA CATACCCACACACCCACAAACACACATACACACACACACAAATACACACA CATACATAACACACCCACACACATACACACACACACACAAACACACAAAT ACACACATACACATACAAAAATACACACATACACACACAAATACACACAT ACACACACATACCCACACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0102 a0002c0003t0002g0102	1	150	0.0067	438	c.107 others(459): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTATTTGTGTGTTTGTGTGTGTGTGTGTATGTGTGTG GGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTATGTGTGTTTGT GGGTGTGTGGGTATGTGTGTGTGGGTATGTGGGTGTGTGTGTGTATGTAT GTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGT GTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTGT GTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGTGTGTGTGTGGG TATGTGTGTGTGGTGTGTATGTGTGTGTGTGTGTGTATGTGTGTGTGTGT GTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(431): Show ACACACCACACATACACACACACACACATACACACACACACACACATACA CACCACACACACATACCCACACACACACATACATACACACACACCACACA CCCCCACACACATACACACACACAAAAATACACATACACACAAACACACA AATACACACATACACACAAAAATACACATACACACAAACACACAAATACA CACACAGAAATACACATACATACACACACACACCCACATACCCACACACA CATACCCACACACCCACAAACACACATACACACACACACACAAATACACA CACATACATAACACACCCACACACATACACACACACACAAACACACAAAT ACACACATACACATACAAAAATACACACATACACACACAAATACACACAT ACACACACATACCCACACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	150	0.0067	438	c.107 others(459): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTATTTGTGTGTTTGTGTGTGTGTGTATGTGTGTGGG TGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTGTTTGT GGGTGTGTGGGTATGTGTGTGTGGGTATGTGGGTGTGTGTGTGTATGTAT GTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGT GTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTGT GTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGTGTGTGTGTGGG TATGTGTGTGTGGTGTGTATGTGTGTGTGTGTGTGTATGTGTGTGTGTGT GTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(431): Show ACACACCACACATACACACACACACATACACACACACACACACATACACA CCACACACACATACCCACACACACACATACATACACACACACCACACACC CCCACACACATACACACACACAAAAATACACATACACACAAACACACAAA TACACACATACACACAAAAATACACATACACACAAACACACAAATACACA CACAGAAATACACATACATACACACACACACCCACATACCCACACACACA TACCCACACACCCACAAACACACATACACACACACACACAAATACACACA CATACATAACACACCCACACACATACACACACACACACAAACACACAAAT ACACACATACACATACAAAAATACACACATACACACACAAATACACACAT ACACACACATACCCACACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	150	0.0067	438	c.107 others(459): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTATTTGTGTGTTTGTGTGTGTGTGTGTATGTGTGTG GGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTGTTT GTGGGTGTGTGGGTATGTGTGTGTGGGTATGTGGGTGTGTGTGTGTATGT ATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTT GTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGT GTGTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGTGTGTGTGTG GGTATGTGTGTGTGGTGTGTATGTGTGTGTGTGTGTGTATGTGTGTGTGT GTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SORCS2_chr4_7187538_7747827	7449281	C C	CCCTCCCT others(431): Show CCCTCCCTCCCTTCCTCCCTCCCTCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCC TTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCCTCCCTCCCTCCTTCCT CCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0030 a0010c0032t0030	a0010c0032t0030g0149 a0010c0032t0030g0149	1	168	0.0060	438	c.548 others(457): Show c.548+52929_548+52930insCCCTCCCTTCCTCCCTCCCTCCTCCC TCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGT CTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTCCC TCCCTCCCTCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
TCF3_chr19_1604292_1657615	1627913	G G	GGGGATGA others(431): Show GGGGATGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	352	0.0028	438	c.299 others(453): Show c.299-488_299-487insGTGAGTTCTGCTGTCCCCTTCCCGCCCCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCAC CTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar

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