Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(453): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	460	c.-11 others(471): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(453): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATAGATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATATATTCA TATATATATTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0034 a0001c0001t0008g0034	1	191	0.0052	460	c.343 others(477): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATCTATATATGAATATATATATGAATCTATATATGAATATATATGAATCT ATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(453): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATATATTCA TATATATATTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01070.hp1 others(2): Show HG00140.hp1 HG01069.hp1 HG01070.hp1 HG01192.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0053 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0009g0083 a0001c0001t0009g0084	5	191	0.0262	460	c.343 others(477): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATATGAATCTATATATGAATATATATGAATCT ATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(453): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCG CCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCCGCACCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0060 a0006c0006t0009g0060	1	292	0.0034	460	c.218 others(475): Show c.2189-97_2189-96insAGGTGCGGGGGGGCACACTCGCCAGGAGCC CATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGG CGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCG CCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGG GGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MICALL2_chr7_1429359_1464470	1446190	A A	AGAGGGAG others(453): Show AGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGA GGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGG CGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19090.hp1 HG00621.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0239 a0001c0002t0001g0240 a0001c0001t0001g0239 a0001c0002t0001g0240	2	280	0.0071	460	c.641 others(475): Show c.641+522_641+523insCTCCCCCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCT CCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCC CCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCC TTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(453): Show GGGGGGAGGAGTGAGAGAAGGGGGAGGAGGGGGAAAGGGGAGGAGGCGGA GCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGAGGGAGAGA AGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAA GAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCG GAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAA AGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGG AGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAA GGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGG AGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAAGGAGGAAGAG GAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	280	0.0036	460	c.641 others(475): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTTCCTCCTC TCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCCTT CTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGTC CTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCCC TTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCCT TCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTCC CCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCTTCTCTCCCTCTCCCCCCTC CTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTCC CCCTCCTCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MSR1_chr8_16102881_16197651	16189584	A A	ATATACAT others(453): Show ATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACAT AAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTTATATATA TTTTATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTTAT TTTATATATATTTTATATATATTTTATATATATAAAATCTTTATATATAT TTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTTAT ATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATATATA AAATCTTACTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp1 NA20129.hp1 HG02965.hp2 HG03225.hp1 NA20129.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0002c0017 a0010c0019 a0002c0002 a0002c0017 a0010c0019	a0002c0002t0006 a0002c0017t0009 a0010c0019t0008 a0002c0002t0006 a0002c0017t0009 a0010c0019t0008	a0002c0002t0006g0017 a0002c0017t0009g0019 a0010c0019t0008g0018 a0002c0002t0006g0017 a0002c0017t0009g0019 a0010c0019t0008g0018	3	330	0.0091	460	c.-5+ others(475): Show c.-5+3013_-5+3014insAAGTAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATAAAATATATATAAAGATTTTATATATAT AAAATATATATAAAGATTTTATATATATAAAATATATATAAAGATTTTAT ATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATATAAA ATATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGATTT TATATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATAT AAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTA TATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAA TAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATA AAATATATATAAAATAAGATTTTATGTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(453): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18955.hp1 NA18948.hp1 NA18955.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0025 a0004c0004t0008g0029 a0004c0004t0008g0025 a0004c0004t0008g0029	2	364	0.0055	460	c.394 others(475): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(453): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0064 a0004c0004t0001g0064	1	364	0.0028	460	c.394 others(475): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690417	A A	AATATAAG others(453): Show AATATAAGTATACATATAAATATATATATTTATATATAAGTATACATATA AATATATATATTTATATATAAGTATATATATAAATATATATTTATATATA AGTATACATATATTTATATATAAGTATATATATAAATATATATATTTATA TATAAGTATATATATATTTATATATAAGTATATATAAATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTGTATATATATAAATATATATATTTATA TATAAGTATATATAAATATATATATTTATATATAAGTATATATAAATATA TATATTTATATATAAGTATATATAAATATATATATTTATATATACGTATA TATAAATATATATATTTAAATATAAGTATATATAAATATATATATTTAAA TATAAGTATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	326	0.0031	460	c.358 others(477): Show c.358+3155_358+3156insGTATACATATAAATATATATATTTATAT ATAAGTATACATATAAATATATATATTTATATATAAGTATATATATAAAT ATATATTTATATATAAGTATACATATATTTATATATAAGTATATATATAA ATATATATATTTATATATAAGTATATATATATTTATATATAAGTATATAT AAATATATATATTTATATATAAGTATATATAAATATATATATTTATATAT AAGTGTATATATATAAATATATATATTTATATATAAGTGTATATATATAA ATATATATATTTATATATAAGTATATATAAATATATATATTTATATATAA GTATATATAAATATATATATTTATATATAAGTATATATAAATATATATAT TTATATATACGTATATATAAATATATATATTTAAATATAAGTATATATAA ATATATATATTTAAATATAAGTATATATATAA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCAPG2_chr7_158626169_158709804	158648682	C C	CCACGCCA others(453): Show CCACGCCAAATGGACTACAACCACGGCAAATGGACTACAACCACGGCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAA TGGACTACAACCAGGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGCCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAA CCACGCCAAATGGACTATAACCACGGCAAATGGACTATAACCACGCCAAA TGGACTACAAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	378	0.0027	460	c.307 others(479): Show c.3076-2120_3076-2119insATTGTAGTCCATTTGGCGTGGTTATA GTCCATTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGG CGTGGTTATAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGCCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTA GTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648682	C C	CCACGCCA others(453): Show CCACGCCAAATGGACTACAACCACGGCAAATGGACTACAACCACGGCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCAGGCCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAA CCACGCCAAATGGACTATAACCACGGCAAATGGACTATAACCACGCCAAA TGGACTACAAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01256.hp1 others(2): Show HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0076 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0076 a0001c0001t0002g0097	5	378	0.0132	460	c.307 others(479): Show c.3076-2120_3076-2119insATTGTAGTCCATTTGGCGTGGTTATA GTCCATTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGG CGTGGTTATAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCCTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGCCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTA GTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648682	C C	CCACGGCA others(453): Show CCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGGCAAATGGACTACAA CCACGCCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAA TGGACTACAACCAGGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGGCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAA TGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAA CCACGCCAAATGGACTATAACCACGGCAAATGGACTATAACCACGCCAAA TGGACTACAAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	378	0.0027	460	c.307 others(479): Show c.3076-2120_3076-2119insATTGTAGTCCATTTGGCGTGGTTATA GTCCATTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGG CGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGC CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGCCGTGGTTGTAGTCCATTTGCCGTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648682	C C	CCACGGCA others(453): Show CCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGGCAAATGGACTACAA CCACGGCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCAGGCCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGGCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAA TGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAA CCACGCCAAATGGACTATAACCACGGCAAATGGACTATAACCACGCCAAA TGGACTACAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG02145.hp2 others(2): Show HG00733.hp2 HG00735.hp2 HG02145.hp2 HG02895.hp2 HG02896.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0015 a0001c0001 a0013c0015	a0001c0001t0002 a0013c0015t0002 a0001c0001t0002 a0013c0015t0002	a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0166 others(2): Show a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0166 a0001c0001t0002g0167 a0013c0015t0002g0130	5	378	0.0132	460	c.307 others(479): Show c.3076-2120_3076-2119insATTGTAGTCCATTTGGCGTGGTTATA GTCCATTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGG CGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCCTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGC CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGCCGTGGTTGTAGTCCATTTGCCGTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648819	C C	CAACCACG others(453): Show CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCAGGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGCC AAATGGACTATAACCACGCCAAATGGACTATAACCACGGCAAATGGACTA TAACCACGCCAAATGGACTACAATCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGGCAAATGGACTA TAACCACGCCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCC AAATGGACTAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	378	0.0027	460	c.307 others(479): Show c.3075+2012_3075+2013insATAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTC CATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCCTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241805353	C C	CGCAGGCC others(453): Show CGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCACC CTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGA ACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACC CAGGGACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0118 a0001c0004t0001g0118	1	319	0.0031	460	c.-39 others(471): Show c.-3925_-3924insGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAA CCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTC CCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCTCAACCCAGGGACCTCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3839		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(453): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATA CTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAG TATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACA CACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATA CACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATA TACACACAGTA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0207 a0001c0001t0006g0207	1	362	0.0028	460	c.-75 others(479): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATAT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATG CAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACATACAGTATACATACATACAGTATACATACATACAGT ATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(453): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTATGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATAC AGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGT ATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACAC TATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATA TACACACAGTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0184 a0001c0001t0007g0184	1	362	0.0028	460	c.-75 others(479): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCAT ACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACATACAGTATACATGCTGTACACAGTATACATGCTGTACACAGT ATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(453): Show CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGTGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAG TCGGGGGGTGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	356	0.0028	460	c.91+ others(473): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGT CGGGGGGTGGGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NMRK2_chr19_3928069_3947416	3937900	C C	CGCTCCCC others(453): Show CGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCT CCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCC GTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCC ACTGTTCCCCCGGGGTCCGCCCTCCTGCAATACCCGCTCCCCGTCCACTG TCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGTCCACTGTTCC CCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCCCG GGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGGGGT CCGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCAC CCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCCCTC CTGCAATACCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01257.hp1 HG01257.hp2 others(5): Show HG00639.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG02738.hp1 HG03654.hp2 HG03834.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0080 a0001c0001t0001g0117 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0080 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0138	8	404	0.0198	460	c.166 others(475): Show c.166+628_166+629insCCCCCCGGGGTCCACCCTCCTGCAATGCCC GCTCCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTC CCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCG TCCACTGTTCCCCCGGGGTCCGCCCTCCTGCAATACCCGCTCCCCGTCCA CTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGTCCACTGT TCCCCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCC CCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGG GGTCCGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTC CACCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCC CTCCTGCAATACCTGCTCCCCGTCCACTGT	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3937900	C C	CGCTCCCC others(453): Show CGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCT CCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCC GTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCC ACTGTTCCCCCGGGGTCCGCCCTCCTGCAATACCCGCTCCCCGTCCACTG TCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGTCCACTGTTCC CCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCCCG GGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGGGGT CTGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCAC CCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCCCTC CTGCAATACCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03669.hp1 HG03704.hp2 others(13): Show HG00423.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18953.hp2 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18997.hp1 NA19009.hp2 NA19068.hp2 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0113 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140	16	404	0.0396	460	c.166 others(475): Show c.166+628_166+629insCCCCCCGGGGTCCACCCTCCTGCAATGCCC GCTCCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTC CCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCG TCCACTGTTCCCCCGGGGTCCGCCCTCCTGCAATACCCGCTCCCCGTCCA CTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGTCCACTGT TCCCCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCC CCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGG GGTCTGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTC CACCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCC CTCCTGCAATACCTGCTCCCCGTCCACTGT	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3937900	C C	CGCTCCCC others(453): Show CGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCT CCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCC GTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCC ACTGTTCCCCTGGGGTCCGCCCTCCTGCAATACCTGCTCCCCGTCCACTG TCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGTCCACTGTTCC CCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCCCG GGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGGGGT CTGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCAC CCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCCCTC CTGCAATACCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02922.hp1 others(3): Show HG01891.hp2 HG02486.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp1 HG06807.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0007 a0002c0004t0003g0073 a0002c0004t0003g0076 a0002c0004t0003g0007 a0002c0004t0003g0073 a0002c0004t0003g0076	6	404	0.0149	460	c.166 others(475): Show c.166+628_166+629insCCCCCCGGGGTCCACCCTCCTGCAATGCCC GCTCCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTC CCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCG TCCACTGTTCCCCTGGGGTCCGCCCTCCTGCAATACCTGCTCCCCGTCCA CTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGTCCACTGT TCCCCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCC CCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGG GGTCTGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTC CACCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCC CTCCTGCAATACCTGCTCCCCGTCCACTGT	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(453): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01952.hp1 HG03831.hp1 HG01358.hp2 HG01952.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0024 a0002c0010 a0001c0004 a0001c0024 a0002c0010	a0001c0004t0005 a0001c0024t0003 a0002c0010t0002 a0001c0004t0005 a0001c0024t0003 a0002c0010t0002	a0001c0004t0005g0156 a0001c0024t0003g0192 a0002c0010t0002g0152 a0001c0004t0005g0156 a0001c0024t0003g0192 a0002c0010t0002g0152	3	324	0.0093	460	c.140 others(477): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NR3C2_chr4_148073764_148447414	148366424	G G	GAAAAAGA others(453): Show GAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAATACTTTTTAAA AAGTACTTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTAAAAAGTACTTTTT AAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTAAAAA GTACTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAGAATACTT TTTAAAAAGTACTTTTAAAAAGAATACTTTTAAAAAAGAATACTTTTTAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01943.hp2 HG01257.hp1 HG01943.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0014 a0001c0001t0003 a0002c0002t0014	a0001c0001t0003g0139 a0002c0002t0014g0031 a0001c0001t0003g0139 a0002c0002t0014g0031	2	170	0.0118	460	c.175 others(481): Show c.1757+68679_1757+68680insTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTC TTTTTTAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTT AAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAGTAT TCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTACTTTT TAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTAAAA AGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTACTTTTTAAAAAGTATT CTTTTTAAAAAGTACTTTTTAAAAAGTATTCTTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(453): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATG GGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGA GGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGG GAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAG GGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGG GGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAG AAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0086 a0002c0002t0004g0086	1	344	0.0029	460	c.154 others(477): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCCTCCCCCTTCCTCC TCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTTCTCCCTTCC CCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCCC CTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCTCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCC CTCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(453): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAG GGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGG GGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGA AGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAG GGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGG GGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAG CAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0111 a0001c0001t0026g0111	1	344	0.0029	460	c.154 others(477): Show c.1545+370_1545+371insCCCTTCCCCTGCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCC TCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(453): Show GGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGA GGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAGA AGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGG GGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGA GGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGG GAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGGGAGGG GAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG02647.hp2 others(4): Show HG02257.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02896.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0082 a0001c0001t0083 others(1): Show a0001c0001t0014 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085	a0001c0001t0014g0207 a0001c0001t0014g0208 a0001c0001t0014g0209 others(4): Show a0001c0001t0014g0207 a0001c0001t0014g0208 a0001c0001t0014g0209 a0001c0001t0014g0217 a0001c0001t0082g0206 a0001c0001t0083g0218 a0001c0001t0085g0220	7	344	0.0204	460	c.154 others(477): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTTCTCCCTTCCCCCTTTC CCCTCCCCCTCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCCCCTCTCCC TTTCCCCTCTCCCTCCCCCACCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCT CCCCCTCCCCTCCTCCCCTCCTCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(453): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGTGGGGGAGGGA GAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGA GGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAGGAGGAAGGG GGAGGAGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGA GGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGG GAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGGGAGGG GAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0127 a0002c0002t0127	a0002c0002t0127g0163 a0002c0002t0127g0163	1	344	0.0029	460	c.154 others(477): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCTCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCC CATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTC CCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(453): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGTGGGGGAGGGA GAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGA GGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAGGAGGAAGGG GGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGA GGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGG GAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGGGAGGG GAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00609.hp1 others(15): Show HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01975.hp1 HG03688.hp2 NA18955.hp1 NA19012.hp2 NA20805.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0011 a0002c0002 a0006c0011	a0002c0002t0004 a0002c0002t0011 a0002c0002t0012 others(12): Show a0002c0002t0004 a0002c0002t0011 a0002c0002t0012 a0002c0002t0030 a0002c0002t0048 a0002c0002t0049 a0002c0002t0110 a0002c0002t0116 a0002c0002t0124 a0002c0002t0134 a0002c0002t0137 a0002c0002t0138 a0002c0002t0142 a0002c0002t0143 a0006c0011t0115	a0002c0002t0004g0098 a0002c0002t0011g0068 a0002c0002t0011g0165 others(14): Show a0002c0002t0004g0098 a0002c0002t0011g0068 a0002c0002t0011g0165 a0002c0002t0012g0046 a0002c0002t0030g0066 a0002c0002t0030g0083 a0002c0002t0048g0059 a0002c0002t0049g0006 a0002c0002t0110g0035 a0002c0002t0116g0047 a0002c0002t0124g0095 a0002c0002t0134g0093 a0002c0002t0137g0096 a0002c0002t0138g0099 a0002c0002t0142g0094 a0002c0002t0143g0164 a0006c0011t0115g0058	18	344	0.0523	460	c.154 others(477): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCC CATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTC CCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NXN_chr17_794310_984776	841405	C C	CCCCCCGA others(453): Show CCCCCCGACCACAGCGCATCTCACACCCGCGAGCAGGTCCCCCCGACCAC AGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCAC ACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACTGGCGAGCA GGTCCCCCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGA CCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCAT CTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACG GGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACC CTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGC GCATCTCACACCCGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACG GGCGAGCAGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	242	0.0041	460	c.361 others(479): Show c.361-15328_361-15327insACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATG CGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAG GGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCT CGCGGGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCAGTGTGA GATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTG GTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCGGGGGGACC TGCTCGCGGGTGTGAGATGCGCTGTGGTCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(453): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCC TTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCT CCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCT ACTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCC TTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTT CCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCC CTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18747.hp1 NA18966.hp2 others(7): Show HG02074.hp2 NA18747.hp1 NA18966.hp2 NA18975.hp1 NA19000.hp1 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19060.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0001t0001 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0145 a0001c0001t0004g0001 a0001c0002t0004g0005	10	350	0.0286	460	c.-14 others(471): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCC TCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCAC CCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTT CCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCC TCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTT CCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCTTCCCTCCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
PALM_chr19_703935_753329	735323	A A	AGGTTCCT others(453): Show AGGTTCCTGTGTCCGGGTGTCTGGATGGGATCCGTGTGTCTGAGGGCCCA GGTGCCTGTCTGGATGTCTGGGGGCCCAGGTGCCTGTGTCCGGGTGTCTG GATGGGATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGATGTCTGGGG GCCCAGGTGCCTGTGTCCGGGTGTCTGGATGGGATCCGTGTGTCTGAGGG CCCAGGTGCCTGTCTGGGTGTCTGGGGGCCCAGGTGCCTGTGTCCGGGTG TCTGGATGGGATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGGTGTCT GGGGGCCCAGGTGCCTGTGTCCGGGTGTCTGGATGGGATCCGTGTGTCTG AGGGCCCAGGTGCCTGTCTGGGTGTCTGGGGGCCCAGGTGCCTGTGTCCG GGTGTCTGGATGGGATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGGT GTCTGGGGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19030.hp2 HG02109.hp2 NA19030.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0279 a0002c0006t0006g0280 a0002c0006t0006g0279 a0002c0006t0006g0280	2	404	0.0050	460	c.443 others(475): Show c.443-696_443-695insGGTTCCTGTGTCCGGGTGTCTGGATGGGAT CCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGATGTCTGGGGGCCCAGGT GCCTGTGTCCGGGTGTCTGGATGGGATCCGTGTGTCTGAGGGCCCAGGTG CCTGTCTGGATGTCTGGGGGCCCAGGTGCCTGTGTCCGGGTGTCTGGATG GGATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGGTGTCTGGGGGCCC AGGTGCCTGTGTCCGGGTGTCTGGATGGGATCCGTGTGTCTGAGGGCCCA GGTGCCTGTCTGGGTGTCTGGGGGCCCAGGTGCCTGTGTCCGGGTGTCTG GATGGGATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGGTGTCTGGGG GCCCAGGTGCCTGTGTCCGGGTGTCTGGATGGGATCCGTGTGTCTGAGGG CCCAGGTGCCTGTCTGGGTGTCTGGGGGCC	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8			chr19	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(453): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATGTATTACATATATAACATATATGTAT TACATATATGTATTACATATATAACATATATGTATTACATATATGTATTA CATATATAACATATATGTATTACATATATGTAATACATATATAACATATA TGTATTACATATATGTAATACATATATAACATGTATTACATATATGTAAT ACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	400	0.0025	460	c.70 others(471): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATGTATTACATAT ATAACATATATGTATTACATATATGTATTACATATATAACATATATGTAT TACATATATGTATTACATATATAACATATATGTATTACATATATGTAATA CATATATAACATATATGTATTACATATATGTAATACATATATAACATGTA TTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(453): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGGAGGAGGCGGAGGGGGAG GAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAG GAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGG GGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGA GGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGG AGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAG GACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGA GGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGA GGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGA GGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	115	0.0087	460	c.305 others(481): Show c.3052+23989_3052+23990insGGAGGAGGCGGAGGGGGAGGAGGA GGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGG GGCAGGAGGAGGAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGG AGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGG AGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAG GCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGG GGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGG AGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGG AGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525239	A A	AGGGGGGA others(453): Show AGGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGG GGAGGAGGAGGGGGAGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGG TGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGG AGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGA GGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGACGGGGAGGAGGAGGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGG AGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAG GAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGT GGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	115	0.0087	460	c.305 others(481): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGGAGGGGGA GGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGA GTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525239	A A	AGGGGGGA others(453): Show AGGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGG GGAGGAGGAGGGGGAGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGG TGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGG AGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGA GGAGGAGGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGG GAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGA GGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGG AGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAG GAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGT GGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0051 a0001c0001t0007g0051	1	115	0.0087	460	c.305 others(481): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGAGG CGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGG GAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGA GGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGA GTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(453): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	460	c.-26 others(471): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(453): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	460	c.-26 others(471): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(453): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0008 a0010c0007t0008	a0010c0007t0008g0113 a0010c0007t0008g0113	1	166	0.0060	460	c.633 others(477): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGACGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC 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(453): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0004 a0011c0011t0004	a0011c0011t0004g0052 a0011c0011t0004g0052	1	166	0.0060	460	c.633 others(477): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063964	C C	CCCCCCCC others(453): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGA CGGGGCGGCTGGCCGGCCGGGGGGCTGACCCCCACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGA CGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0041 a0004c0006t0006g0041	1	166	0.0060	460	c.633 others(477): Show c.633-3986_633-3985insCCCACCTCCCTCCCGGACGGGGCGGCTG GTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCTGGACGGGGCGGCTGGCCGGCCGGGGGGCTGACCCCCA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACACCCCC	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(453): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0184 a0001c0006t0001g0184	1	262	0.0038	460	c.129 others(477): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG 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(453): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0026	1	262	0.0038	460	c.129 others(477): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(453): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0055 a0001c0002t0004g0055	1	262	0.0038	460	c.129 others(477): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTA TTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(453): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAATGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAA GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	342	0.0029	460	c.20- others(475): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTT TCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PERM1_chr1_970198_987093	977562	G G	GCTCCCCC others(453): Show GCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGA ACCGCCTCCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0213 a0005c0006t0005g0213	1	408	0.0025	460	c.215 others(477): Show c.2150-939_2150-938insTGGGAGGCGGTTCCCGGGGTTGGCGGGG TGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGG GAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTG CGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCTCGGGG TTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCG GTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCGGTG GGGGCAGGCGGTTCCCGGGGTTGCGGGGGGAG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977562	G G	GCTCCCCC others(453): Show GCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGA ACCGCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0159 a0001c0001t0005g0159	1	422	0.0024	460	c.29 others(471): Show c.2987_*2988insCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCA CCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCG CCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACC CCGCCAACCCCGGGAACCGCCTCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1698		chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141429666	A A	AGGTCCCC others(453): Show AGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CAGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGT CCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAG TCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCAC AGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCA CAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGC ACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCG CACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGC GCACAGCCCAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	323	0.0031	460	c.405 others(477): Show c.405-1260_405-1259insGTCCCCGCTGTAAGGACCAGGTGGCGGG GACAGGGTGAGCGCACAGTCCAGGTCCCCGCTGTAAGGACCAGGTGGCGG GGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTG GCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCG GTGGCGGGGACAGGGTGAGCGCACAGCCCACG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(453): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGGTG GCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGA TGGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	323	0.0031	460	c.405 others(477): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(453): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGA TGGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	323	0.0031	460	c.405 others(477): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCCGGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar

Search by Variant

Search

Search Results