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
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(639): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTTCTTAAAATAATTCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0241 a0002c0002t0002g0241	1	288	0.0035	646	c.483 others(661): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT TCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(639): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCC CTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCC TCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0092 a0003c0003t0001g0092	1	140	0.0071	646	c.114 others(665): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCC CTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCT CCCCTCCCCTCCTCCTCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCT CCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(639): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGT CCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCC ACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAG CCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCC CCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCCT CCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCC ACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGA GCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCCA AGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC CCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCC ACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0188 a0001c0016t0003g0188	1	324	0.0031	646	c.140 others(663): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGC TCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(639): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCCTCC CCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAG AGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCC CCCCAGTCCCTCCCCACAGAGCCGAGTCCGTCCCCACAGAGCCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCCTC CCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCTTCCCCA CAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAG CCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCCAA GTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCC CCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCC ACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0292 a0001c0006t0001g0292	1	324	0.0031	646	c.140 others(663): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCT CTGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGG GGAGGGACTGGGGGCTCTGTGGGGAAGGACTCGGGGGCTCTGTGGGGAGG GACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGG GGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGCT CTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGT GGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAG GGACTTGGGGGCTCTGTGGGGAGGGGACTGGGGGGCTCTGTGGGGAGGGA CTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGG GGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGC TCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(639): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCC CCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAG AGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCC CCCCAGTCCCTCCCCACAGAGCCGAGTCCGTCCCCACAGAGCCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCCTC CCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCA CAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAG CCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCCAA GTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCC CCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCC ACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0283 a0001c0003t0030g0283	1	324	0.0031	646	c.140 others(663): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCT CTGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGG GGAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGG GACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGG GGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGCT CTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGT GGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAG GGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGAC TGGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGG GGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGC TCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534862	G G	GCCCCCAG others(639): Show GCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCC CCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCAAGTCC CTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCC ACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAG AGCCGAGTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCC CCAGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTC CCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCC CCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAG AGCCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCC CAGTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTC CCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTC CCCACAGGCCCCACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0009 a0001c0038t0009	a0001c0038t0009g0298 a0001c0038t0009g0298	1	324	0.0031	646	c.140 others(663): Show c.140+9161_140+9162insGCTCTGTGGGGAGGGACTGGAGCCTGGT GTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCTGTGGGGAGGGACT CGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGGGGGACTGGGGG GCTCTGTGGGGAGGGACTGGGGGCCTGTGGGGACGGACTTGGGGGCTCTG TGGGGAGGGAGTGGGGGCTCTGTGGGGACGGACTCGGGCTCTGTGGGGAG GGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACT CGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGG GGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGCTC TGTGGGGACGGACTCGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGCTCTGGGGAGGGAC TGGGGGGCTCTGTGGGGAGGGACTTGGGGGCTCTGTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGGGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(639): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTAAACTATATAGTTTTAAACTATATAAACTATATAGT TTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTA TGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAA ACTACGTAGTTTTAAACTATATAGTTTTAAACTACGTAGTTTTAAACTAT ATAGTTTTAAACTACGTAGTTTTAAACTATATAGTTTTAAACTACGTAGT TTTAAACTATATAGTTTTAAACTACGTAGTTTTAAACTATATAGTTTTAA ACTACGTAGTTTTAAACTATATAGTTTTAAACTACGTAGTTTTAAACTAT ATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGT AGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0239 a0001c0006t0001g0239	1	244	0.0041	646	c.342 others(665): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACGTAGTTTAAAACTA TATAGTTTAAAACTACGTAGTTTAAAACTATATAGTTTAAAACTACGTAG TTTAAAACTATATAGTTTAAAACTACGTAGTTTAAAACTATATAGTTTAA AACTACGTAGTTTAAAACTATATAGTTTAAAACTACGTAGTTTAAAACTA TATAGTTTAAAACTACGTAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAA CTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT ATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTAAACTATATAAACTATATAGTTTTAAACTAT ATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTAT ATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACT ATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGC others(639): Show GGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG GCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAG GTACCACGGACGGTCACACTGTGGGGGGGGGCTGGAGTCAGACAGACCAA GGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGG AGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAG AGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	242	0.0041	646	c.360 others(665): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACC GTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCC CCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTG TCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGT GGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCCA CAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGA CTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAAC CTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACC TGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGC CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTGTCTGACTCCAGCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PLEKHN1_chr1_961482_980865	977065	C C	CCAACCCC others(639): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCCCG GGAACCGCCTGCCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCCACTCCCCCACCCCCA CCAACCCCGGGAGAACCGCCTCCCACTCCCCCCCGCAAACCCCGGGAACC GCCTCCCCACTCCCCCCCGCAACCCCGGGGAACCGCCTCCCACTCACTCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCCGGGAA CCGCCCTCCCACTCCACCCCCCCGCAACCCCGGGGAACCGCCTCCCACTT CCCCCCCGCAAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GGAACCCGCCTCCCACTCCCCCCACCAACCCCGGGAACCCCGCCCCTCCC CACTCCCCCCCACCAACCCCCGGGAAACCGCCTCCCACTCCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	422	0.0024	646	c.24 others(657): Show c.2490_*2491insCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCCCGGGAACCGCCTGCCCCCCGCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCCGCAAC CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCC ACTCCCCCACCCCCACCAACCCCGGGAGAACCGCCTCCCACTCCCCCCCG CAAACCCCGGGAACCGCCTCCCCACTCCCCCCCGCAACCCCGGGGAACCG CCTCCCACTCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCCGGGAACCGCCCTCCCACTCCACCCCCCCGCAACCCCGGGG AACCGCCTCCCACTTCCCCCCCGCAAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGGAACCCGCCTCCCACTCCCCCCACCAACCCCGGG AACCCCGCCCCTCCCCACTCCCCCCCACCAACCCCCGGGAAACCGCCTCC CACTCCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1201		chr1	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(639): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTATATATATATGTATATATATACACATATATATAC ATATATATATACACACATATATACACACATATATATACACACATATATAT ACACACACACACACATAATATATATGTATTATATATATGTATATAATATA TATATATATATTATCAGCAGCTGTATTGACAAGATTTTCATTACTTCCTA AATGTCTGCACTGGCTTGCTTTATTTTTCCTTTTAAAGTTTATATATATA TAAATGTATATAATATATATACATATATATAATACATATATATGTATATA ATATATATATGTATTATGTGTGTGTGTGTATATATATGTGTATATATATA TGTATATATATATACACATATATATACACACATATATATACACACACACA CATAATACATATATATATTATATACATATATATGTATTATATATATGTAT ATATATTATATACATATATATGTATTATATATATGTATATATATTATATA CATATATATGTATTATATATATGTATATATATTATATACATATATATGTA TTATATATATGTATATATATTATACATATATATGTATTATATATATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0031 a0001c0005t0031	a0001c0005t0031g0124 a0001c0005t0031g0124	1	170	0.0059	646	c.106 others(665): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATATAT ACACATATATATACATATATATATACACACATATATACACACATATATAT ACACACATATATATACACACACACACACATAATATATATGTATTATATAT ATGTATATAATATATATATATATATTATCAGCAGCTGTATTGACAAGATT TTCATTACTTCCTAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTTAA AGTTTATATATATATAAATGTATATAATATATATACATATATATAATACA TATATATGTATATAATATATATATGTATTATGTGTGTGTGTGTATATATA TGTGTATATATATATGTATATATATATACACATATATATACACACATATA TATACACACACACACATAATACATATATATATTATATACATATATATGTA TTATATATATGTATATATATTATATACATATATATGTATTATATATATGT ATATATATTATATACATATATATGTATTATATATATGTATATATATTATA TACATATATATGTATTATATATATGTATATATATTATACATATATATGTA TTATATATATGTATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(639): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTATATATATATGTATATATATACACATATATATAC ATATATATATACACACATATATATACACACATATATATACACACATATAT ATACACACACACACACATAATATATATGTATTATATATATGTATATAATA TATATATATATATTATCAGCAGCTGTATTGACAAGATTTTCATTACTTCC TAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTTAAAGTTTATATATA TATAAATGTATATAATATATATACATATATATAATACATATATATGTATA TAATATATATATGTATTATGTGTGTGTGTGTATATATATGTGTATATATA TATGTATATATATATACACATATATATACACACATATATATACACACACA CACATAATACATATATATATTATATACATATATATGTATTATATATATGT ATATATATTATATACATATATATGTATTATATATATGTATATATATTATA TACATATATATGTATTATATATATGTATATATAATACATATATATGTATT ATATATATGTATATATATTATATACATATATATGTATTATATATATG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0043 a0002c0008t0006g0043	1	170	0.0059	646	c.106 others(665): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATATAT ACACATATATATACATATATATATACACACATATATATACACACATATAT ATACACACATATATATACACACACACACACATAATATATATGTATTATAT ATATGTATATAATATATATATATATATTATCAGCAGCTGTATTGACAAGA TTTTCATTACTTCCTAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTT AAAGTTTATATATATATAAATGTATATAATATATATACATATATATAATA CATATATATGTATATAATATATATATGTATTATGTGTGTGTGTGTATATA TATGTGTATATATATATGTATATATATATACACATATATATACACACATA TATATACACACACACACATAATACATATATATATTATATACATATATATG TATTATATATATGTATATATATTATATACATATATATGTATTATATATAT GTATATATATTATATACATATATATGTATTATATATATGTATATATAATA CATATATATGTATTATATATATGTATATATATTATATACATATATATGTA TTATATATATGTATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(639): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGAT GGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTG ATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGT AATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA ATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGAT AATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATA ATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02622.hp2 HG02818.hp1 others(3): Show HG00735.hp2 HG02622.hp2 HG02818.hp1 HG02976.hp1 HG03130.hp2 HG03471.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0018 a0003c0005t0001g0249 a0003c0005t0001g0251 others(1): Show a0003c0005t0001g0018 a0003c0005t0001g0249 a0003c0005t0001g0251 a0003c0005t0001g0256	6	374	0.0160	646	c.-46 others(657): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA ATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGAT GGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTG ATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGAT GGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGA TGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATG GTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCCTCACC others(639): Show CCCTCACCTCTTCCTGTACCCTTCACTTCCTCCTGTACCCCCTCACCTCC TCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCC TCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTC ACCTCTTCCTGTACCCTTCACTTCCTCCTGTACCCCCCTCACCTCCTCCT GTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCA CCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0025 a0001c0002t0043g0025	1	295	0.0034	646	c.139 others(665): Show c.1396-1105_1396-1104insCTCACCTCTTCCTGTACCCTTCACTT CCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTC CTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCC TCCTGTACCCCCTTACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCTTCACTTCCTCC TGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCC CATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCCTCACC others(639): Show CCCTCACCTCTTCCTGTACCCTTCACTTCCTCCTGTACCCCCTCACCTCC TCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCC TCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACC TCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTC ACCTCTTCCTGTACCCTTCACTTCCTCCTGTACCCCCCTCACCTCCTCCT GTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCA CCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0285 a0001c0002t0019g0285	1	295	0.0034	646	c.139 others(665): Show c.1396-1105_1396-1104insCTCACCTCTTCCTGTACCCTTCACTT CCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTC CTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCC TCCTGTACCCCCTTACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCTTCACTTCCTCC TGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCC CATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RTN1_chr14_59590983_59875776	59750553	A A	ATATATCT others(639): Show ATATATCTATAATATATATATCTATAATATATAATATATCTATAATATAT ATATCTATAATATATAATATATCTATAATATATATATCTATAATATATAA TATATCTATAATATATATATCTATAATATATAATATATCTATAATATATA TATCTATAATATATAATATATCTATAATATATATATTATATCTATAATAT ATAATATATCTATAATATATATAATATATCTATAATATATATATTATATC TATAATATATAATATATCTATAATATATATATTATATCTATAATATATAA TATATCTATAATATATAATATATCTATAATATATATATTATAGATATAAT ATATAATATATCTATAATATATATATTATATATATAATATATAATATATT ATATATAATATATAATATATTATATATATAATATATAATATATTATATCT ATAATATATTATATGTAATATATATATGTTATATCTATAATATATATTAT ATCTATAATATATAATATATTATATCTATAAATATAATATATTATATCTA TAATATATTATATATTATATCTATAATATATAATATATTATATCTATAAA TATAATATATTATATCTATAATATATAATATATTATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0071 a0001c0007t0005g0071	1	172	0.0058	646	c.242 others(663): Show c.242-4073_242-4072insATATATATATTATAATATATTATATATT ATAGATATAATATATTATATTTATAGATATAATATATTATATATTATAGA TATAATATATAATATATTATAGATATAATATATTATATTTATAGATATAA TATATTATATATTATAGATATAATATATATTATAGATATAACATATATAT ATTACATATAATATATTATAGATATAATATATTATATATTATATATATAA TATATTATATATTATATATAATATATTATATATTATATATATAATATATA TATTATAGATATATTATATATTATATCTATAATATATATATTATAGATAT ATTATATATTATAGATATATTATATATTATAGATATAATATATATATTAT AGATATATTATATATTATAGATATAATATATATATTATAGATATATTATA TATATTATAGATATATTATATATTATAGATATAATATATATATTATAGAT ATATTATATATTATAGATATATATATTATAGATATATTATATATTATAGA TATATATATTATAGATATATTATATATTATAGATATATATATTATAGATA TATTATATATTATAGATATATATATTATAGATATATTATATATTATAGAT ATATATATTATAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(639): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGTTGGGATGGAT GGATGGATGGTTGGGATGGATGGATGGATGGATGGGTGGATGGATGGATG GGTGGTATGGATGGATGGGTGTGATGGATGGATGGGTGGGATGGATGGAT GGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGAT GGATGGAATGGATGAATGGGGGATGGATGGATGGGGGATGGATGGATGGA TGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGATGGA TGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGG ATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGATGGAT GGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATG GATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATG GATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02258.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0189 a0001c0001t0001g0050 a0001c0001t0001g0189	2	189	0.0106	646	c.198 others(665): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGTTGGGAT GGATGGATGGATGGTTGGGATGGATGGATGGATGGATGGGTGGATGGATG GATGGGTGGTATGGATGGATGGGTGTGATGGATGGATGGGTGGGATGGAT GGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGAT GGATGGATGGAATGGATGAATGGGGGATGGATGGATGGGGGATGGATGGA TGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGA TGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGG ATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGAT GGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATG GATGGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGG GATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGG GTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(639): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCC CCACCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0109 a0001c0001t0018g0109	1	150	0.0067	646	c.77- others(663): Show c.77-45373_77-45372insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CCTCCCCACCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCC CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCC TTCCCCTCCCCTCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(639): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCC CCACCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0088 a0001c0001t0014g0088	1	158	0.0063	646	c.22+ others(663): Show c.22+36338_22+36339insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CCTCCCCACCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCC CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCC TTCCCCTCCCCTCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(639): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGG AGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGA GAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGG AGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGA AAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0232 a0001c0001t0009g0232	1	350	0.0029	646	c.624 others(661): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTC CTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACT TCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTC TTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCT CCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCT CCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCC CTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCT CCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(639): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG GAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC AGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGG CGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG CAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	373	0.0027	646	c.115 others(663): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCAGGCCCCCCACC CAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT TCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGC CCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCC CCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGC CTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCT GCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGC CCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414460	G G	GGGGAAGG others(639): Show GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGG CACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGG GGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	373	0.0027	646	c.115 others(663): Show c.1156+230_1156+231insTGCCCTGCCCCTCCCGGCCCCCCACCCA GCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCG CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC CGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCT CCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC CCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT TCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGC CCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCC CCCACCCAGTGCCTTCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414498	G G	GGGGAAGG others(639): Show GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCT GGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGG CCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGG CGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG GGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAA GGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGG GGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGG GGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0348 a0001c0003t0005g0348	1	373	0.0027	646	c.115 others(663): Show c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCA GCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTG CCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC CGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACC CAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC TTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCA CCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTC CCTTCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT TCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGC CCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCC CCCACCCAGTGCCTTCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGAAGGG others(639): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGA AGGGAGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGG GGAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGA GGGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGA GAGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGG GGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGA GGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGG GAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGG GAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAG GGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGG GAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	646	c.12 others(657): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCT TCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTC CCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTC ACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACC CTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(639): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGA GGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGG TGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGG GGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGG AAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGG GGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGA GGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAG GGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGG GAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA20905.hp1 HG02080.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	646	c.12 others(657): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCC CATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCT CCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCT CCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTC CCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCC TCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCT CCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCC TCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(639): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGA AGGGAGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGG GGAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGA GGGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGA GAGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGG GGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGA GGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGG GAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGG GAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAG GGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGG GAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	646	c.12 others(657): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCT TCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTC CCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTC ACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACC CTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(639): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCT GGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	356	0.0028	646	c.245 others(663): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTT TTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGG CACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(639): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAACAAAGTGCT GGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	356	0.0028	646	c.245 others(663): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAA AAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTT TTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGG CACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(639): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAG GGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0318 a0001c0001t0088g0318	1	322	0.0031	646	c.597 others(663): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCC CTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTT TCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCC CTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTC CCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SUN1_chr7_827476_879934	868689	G G	GCAGTGCT others(639): Show GCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTGCTGGTT CCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTT GGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGG GGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGG TTCTCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTG TTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGG GGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCT GGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGG TGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGAT GGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGGCAGTG CTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGT GGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGG ATGGGGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0316 a0003c0003t0001g0316	1	418	0.0024	646	c.198 others(663): Show c.1981-553_1981-552insGGGGGGGCAGTGCTGGTTCCCTGTGGTG TTGGTCGGATTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGG GGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCT GGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGG TGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGAT GGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTG CTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGT GGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGG ATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAG TGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCT GTGGTGTTGGTCGGATGGGGGGACAGTGCTGGTTCCCTGTGGTGTTGGTC GGATGGGGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGC AGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCC CTGTGGTGTTGGTCGGAT	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBCD_chr17_82747065_82950914	82785837	G G	GCCCATCG others(639): Show GCCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGGGACCACTGG ACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCA CTGGACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGG ACCACTGGACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGAC TGGGACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTG TGACTGGGACCACTGGATCCCACCCATCGCAGCGGGAGAGGGGTCCATGC TGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGTCCG TGCTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGGGT CCATGCTGTGTGACTGGGACCACTGGATCCCACCCATCACAGCGGGAGGG GGGTCCATGTTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGG AGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAG CGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATC GCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0033 a0002c0007t0033	a0002c0007t0033g0136 a0002c0007t0033g0136	1	318	0.0031	646	c.771 others(663): Show c.771+4116_771+4117insCCCATCGCAGCGGGAGGGGGGGTCCATG CTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGGTC CATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGG GGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGA GGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCACCCATCGCAGC GGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCACCCATCG CAGCGGGAGAGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCC ATCGCAGCGGGAGGGGGTCCGTGCTGTGACTGGGACCACTGGACCCGACC CATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATC CCACCCATCACAGCGGGAGGGGGGTCCATGTTGTGTGACTGGGACCACTG GATCCCGCCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACC ACTGGATCCCGCCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGG GACCACTGGACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGA CTGGGACCACTGGATCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38			chr17	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(639): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCT CTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp2 HG02886.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0023 a0001c0002t0002g0010 a0001c0001t0005g0023 a0001c0002t0002g0010	2	256	0.0078	646	c.924 others(663): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACA GAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(639): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGT CTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCT CTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCT CTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCT CTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA20300.hp2 HG00408.hp2 NA20300.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0015 a0001c0001 a0016c0015	a0001c0001t0001 a0016c0015t0026 a0001c0001t0001 a0016c0015t0026	a0001c0001t0001g0209 a0016c0015t0026g0092 a0001c0001t0001g0209 a0016c0015t0026g0092	2	256	0.0078	646	c.924 others(663): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACAGA GAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(639): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCT GTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0028	1	256	0.0039	646	c.924 others(663): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(639): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0189 a0001c0002t0007g0189	1	256	0.0039	646	c.924 others(663): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(639): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTTCTCTCTCTCTGTC TCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTC TCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTC TGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTC TGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0188 a0001c0002t0007g0188	1	256	0.0039	646	c.924 others(663): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAAGAGAGAGAGAGAAAG AGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAG AGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAG AGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAG AGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(639): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCT GTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0081 a0001c0002t0011g0081	1	256	0.0039	646	c.924 others(663): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415743	C C	CTCTCTGT others(639): Show CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT GTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0062 a0001c0001t0001g0063	2	256	0.0078	646	c.924 others(663): Show c.924-2428_924-2427insCAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGA GACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGA GAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGAGACAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415745	C C	CTCTCTCT others(639): Show CTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCT GTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0162 a0007c0017t0001g0162	1	256	0.0039	646	c.924 others(663): Show c.924-2430_924-2429insCAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747979	G G	GCTGGGGT others(639): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0096 a0002c0002t0096	a0002c0002t0096g0215 a0002c0002t0096g0215	1	314	0.0032	646	c.189 others(661): Show c.189-334_189-333insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM242_chr6_157284025_157328519	157311522	A A	ACTCACGT others(639): Show ACTCACGTAGCCTCATCATAGTGTCCCAGTGTGTGCACACCTAGCTTCAT CAGAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGT GCGCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCACTCACATGGCCTC ATCAAAGTGTCCCAGTGTGCACTCACCTGGCCTCATAATAGTGCCCCAGT GTGTGCTCAACTACCCTCATCATAGTGTCACAGTGTGCACTCACCCGGCC TCATCATAGTGCCCAAGTGTGCACTTACCTAGCCTCATCATAGTGTCCCA CTGTGCGCTCACCCGGCCTCATCATAGTGTAACAGTGTGCGCTCACCTGG CCTCATCTTAGTGCCCCACTGTGCACTCACCTAGCCTCATCATAGTGCCT CAGTGTGCACTCACATAGCCTCATCATAGTGCCCCAGTATGAGCTCACCT AGCCTCATCATAGTGCCCCAGTCTGCGCACACCTAGCCTCATCATAGTGC CCCAGTGTGCGCTCACCTAGCCACATCATAGTGTCCCAGTGTGCACTCAC CTGGCCTCATCATAGTGTCCCAGAGTGCGCTCACCCGGCCTCATCATAGT GCCCCAGTGTGCGCTCACCTAGCTTCATCATAGTGTCATAGTGGGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18964.hp2 NA19066.hp2 NA18954.hp1 NA18964.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0007 a0001c0001t0012g0159 a0001c0001t0001g0007 a0001c0001t0012g0159	3	344	0.0087	646	c.327 others(663): Show c.327+7259_327+7260insCTCCCACTATGACACTATGATGAAGCTA GGTGAGCGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACTCTGG GACACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGTGGC TAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTGTGCGCAGACT GGGGCACTATGATGAGGCTAGGTGAGCTCATACTGGGGCACTATGATGAG GCTATGTGAGTGCACACTGAGGCACTATGATGAGGCTAGGTGAGTGCACA GTGGGGCACTAAGATGAGGCCAGGTGAGCGCACACTGTTACACTATGATG AGGCCGGGTGAGCGCACAGTGGGACACTATGATGAGGCTAGGTAAGTGCA CACTTGGGCACTATGATGAGGCCGGGTGAGTGCACACTGTGACACTATGA TGAGGGTAGTTGAGCACACACTGGGGCACTATTATGAGGCCAGGTGAGTG CACACTGGGACACTTTGATGAGGCCATGTGAGTGCACACTGGGGCACTAT GATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTAGGTGAG CGCACACTGGGACACTCTGATGAAGCTAGGTGTGCACACACTGGGACACT ATGATGAGGCTACGTGAG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311749	T T	TCCCAGAG others(639): Show TCCCAGAGTGCGCTCACCGAGCCTCATCATAGTGTCCCAGTGTGCGCTCA CCGAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTAGTCATAG TGCCCCAGTGTGCACTCACCCGGCCTCATCATAGTGTCCCAGTGTGCGCT CACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACCCGGCCTCATCAT AGTGTCCCAGTGTGCGCTCACCCGGCCTAGTCATAGTGCCCCAGTGTGCG CTCACCCGGCCTCACCATAGTGTCCCAGTGTACACTCACCTAGCCTCATC ATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAATGTG CGCTCACCCGGCCTCATCATAGTGTCCCAGTTAGCGCTCACCCGGCCTCA TCATAGTGCCGCAGTGTGCACTCACCTGGCCTCAACATACTGTCCCAGTG TGCGGTCACCTGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCGAGCAT CATCATAGTGCCCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCCCAC TGGGCCCTCACCCGGCCTCATGATAGTGTCCCAGTATGCACTCACATGCA CAGATCATAGTGCCACAGTGTGCATTCACCTAGCCTCATCATAGCGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 HG02717.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0002 a0001c0001t0021g0002	2	344	0.0058	646	c.327 others(663): Show c.327+7032_327+7033insGCGCTATGATGAGGCTAGGTGAATGCAC ACTGTGGCACTATGATCTGTGCATGTGAGTGCATACTGGGACACTATCAT GAGGCCGGGTGAGGGCCCAGTGGGGCACTATGATGAGGCCGGGTGAGCGC ACACTGGGGCACTATGATGATGCTCGGTGAGCGGACACTGGGACACTATG ATGAGGCCAGGTGACCGCACACTGGGACAGTATGTTGAGGCCAGGTGAGT GCACACTGCGGCACTATGATGAGGCCGGGTGAGCGCTAACTGGGACACTA TGATGAGGCCGGGTGAGCGCACATTGGGACACTATGATGAGGCTAGGTGA GTGCACACTGGGACACTATGATGAGGCTAGGTGAGTGTACACTGGGACAC TATGGTGAGGCCGGGTGAGCGCACACTGGGGCACTATGACTAGGCCGGGT GAGCGCACACTGGGACACTATGATGAGGCCGGGTGAGTGCACACTGGGGC ACTATGACTAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCCGG GTGAGTGCACACTGGGGCACTATGACTAGGCCGGGTGAGCGCACACTGGG ACACTATGATGAGGCTCGGTGAGCGCACACTGGGACACTATGATGAGGCT CGGTGAGCGCACTCTGGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312694	G G	GCCCCAGT others(639): Show GCCCCAGTGTGCACTCACCTGGCCTCACCATAGTATCCCAGTGTCCGCTC ACCCGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCCGGCCTCATCATA GTGTCCCAGTTAGCGCTCACCCGGCCTCATCATAGTGCCGCAGTGTGCAC TCACCTGGCCTCAACATACTGTCCCAGTGTGCGGTCACCTGGCCTCATCA TAGTGTCCCAGTGTCCGCTCACCGAGCATCATCATAGTGCCCCAGTGTGC GCTCACCCGGCCTCATCATAGTGCCCCACTGGGCCCTCACCCGGCCTCAT GATAGTGTCCCAGTATGCACTCACATGCACAGATCATAGTGCCACAGTGT GCATTCACCTAGCCTCATCATAGCGCCCCAGTGTGCACTCACCTAGGCTC ATCATAGTGTCCCACTGTGCGCTCACCTAGCCCCATTATAGTGCCCCAGT GTGCGCTCAACTGGCCTCATCATAGTGTCCCAGAGTGCGCTCACCTAGCC TCATCATAGTGTGCCAGTGTACCCTCAGCCGGCCTCATCATAGTGTCCCA GTGTGCGCTCACCAGGCCTCATAACAGTGCCCCAGGGTGCGCTCACCTGG CCTCATCATAGTGTCCCAGTGTGCATTCACCTGGCCTCATCATAGTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG03098.hp2 others(1): Show HG02145.hp1 HG02895.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	4	344	0.0116	646	c.327 others(663): Show c.327+6087_327+6088insAACTATGATGAGGCCAGGTGAATGCACA CTGGGACACTATGATGAGGCCAGGTGAGCGCACCCTGGGGCACTGTTATG AGGCCTGGTGAGCGCACACTGGGACACTATGATGAGGCCGGCTGAGGGTA CACTGGCACACTATGATGAGGCTAGGTGAGCGCACTCTGGGACACTATGA TGAGGCCAGTTGAGCGCACACTGGGGCACTATAATGGGGCTAGGTGAGCG CACAGTGGGACACTATGATGAGCCTAGGTGAGTGCACACTGGGGCGCTAT GATGAGGCTAGGTGAATGCACACTGTGGCACTATGATCTGTGCATGTGAG TGCATACTGGGACACTATCATGAGGCCGGGTGAGGGCCCAGTGGGGCACT ATGATGAGGCCGGGTGAGCGCACACTGGGGCACTATGATGATGCTCGGTG AGCGGACACTGGGACACTATGATGAGGCCAGGTGACCGCACACTGGGACA GTATGTTGAGGCCAGGTGAGTGCACACTGCGGCACTATGATGAGGCCGGG TGAGCGCTAACTGGGACACTATGATGAGGCCGGGTGAGCGGACACTGGGA CACTATGATGAGGCCGGGTGAGCGGACACTGGGATACTATGGTGAGGCCA GGTGAGTGCACACTGGGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313372	G G	GTGCCGCA others(639): Show GTGCCGCAGTGTGCGCTCACGTGACTTCAACATAGTGTCCCAGTGTGCAC TCACCCGGCCTCATCATAGTACCCCAGTGTGCACTCACCTGGCCTCATCA TACTGTCCCAATGTGCACTCACCTGGCCTCATCATAGTGTCCCAGGGTGC AATCACCAGGCCTCGTCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCAT CATAGTGCGCCAGTGTGTGCTCAACTAGCCTCATCATAGTGCCCCATTGT GCGCTCATCTACCCTCATCATAGTGTCCCAGTGTGCACTCACCTGGCCTC ATCATACTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGT GTGCACTCACCCGGTCTCATGACAGTGTCCCAGTGTGCGCTGACCTAGCC TCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATGGTGTCCCA GTGTGAGCTCACCCGGCCTCATCATAGTGTCCCAGTGTGCGCTGACCTAG CCTCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCC CAGTGTGAGCTCACCCGGACTCATCATAGTGTCCCAATGTGCACTCACAC GGCCTCATCATAGTGTCCCAGTATGCACTCACCCAGCCTCATCATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0272 a0001c0001t0018g0272	1	344	0.0029	646	c.327 others(663): Show c.327+5409_327+5410insGTATGATGAGGCTGGGTGAGTGCATACT GGGACACTATGATGAGGCCGTGTGAGTGCACATTGGGACACTATGATGAG TCCGGGTGAGCTCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACA CTGGGACACTATGATGAGGCTAGGTCAGCGCACACTGGGACACTATGATG AGGCCGGGTGAGCTCACACTGGGACACCATGATGAGGCTAGGTGAGTGCA CACTGGGACACTATGATGAGGCTAGGTCAGCGCACACTGGGACACTGTCA TGAGACCGGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCG CACACTGGGACAGTATGATGAGGCCAGGTGAGTGCACACTGGGACACTAT GATGAGGGTAGATGAGCGCACAATGGGGCACTATGATGAGGCTAGTTGAG CACACACTGGCGCACTATGATGAGGCCAGGTGAGCGGACACTGGGACACT ATGACGAGGCCTGGTGATTGCACCCTGGGACACTATGATGAGGCCAGGTG AGTGCACATTGGGACAGTATGATGAGGCCAGGTGAGTGCACACTGGGGTA CTATGATGAGGCCGGGTGAGTGCACACTGGGACACTATGTTGAAGTCACG TGAGCGCACACTGCGGCA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(639): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGG GGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGA CACATCCCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACA CATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACA TCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATC CCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0082 a0001c0001t0033g0082	1	260	0.0039	646	c.54 others(657): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGAACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCC CCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATACCCCC TCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTC CAGGGGACACATCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAG GGGACACATCCC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		323		chr13	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(639): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATAATGTATATATACATGTATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATAATGT ATATATACATTATACATACGTAAATGTATAATGTATATATACATTATACA TACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAAT GTATATATACATTATACATACGTAAATGTATAATGTATATATATACATTA TACATACGTAAATGTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	388	0.0026	646	c.-23 others(663): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTAC GTATGTATAATGTATATATACATTATACATTATACATTTACGTATGTATA ATGTATATATACATTATACATTTACGTATGTATAATACATGTATATATAC ATTATACATTTACGTATGTATAATACATGTATATATACATATATACATTT ACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATA ATACATGTATATATACATATATACATTTACGTATGTATAATACATGTATA TATACATATATACATTTACGTATGTATAATACATGTATATATACATATAT ACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTA TGTATAATACATGTATATATACATATATACATTTACGTATGTATAATACA TGTATATATACATATATACATTTACGTATGTATAATACATGTATATATAC ATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(639): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATAATGTATATATACATGTATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATAAT GTATATATACATTATACATACGTAAATGTATAATGTATATATACATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATTA TACATACGTAAATGTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	388	0.0026	646	c.-23 others(663): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTATACATTTACGTATGTATAAT GTATATATACATTATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATACATGTATATATACATTATACATTT ACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATA ATACATGTATATATACATATATACATTTACGTATGTATAATACATGTATA TATACATATATACATTTACGTATGTATAATACATGTATATATACATATAT ACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTA TGTATAATACATGTATATATACATATATACATTTACGTATGTATAATACA TGTATATATACATATATACATTTACGTATGTATAATACATGTATATATAC ATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(639): Show ACACACACCACACCCTACACACACCACACACCCCACACACACATCACACA CCACACACACCACACACACCACACACACACCACACACACACATCACATAC CACACACCCGACACACGCCACACACACACCACACACCCCACGCACACATC ACATACCACACACAAACCACACACCCTACACACACCACACACCCCACACA CACCACACACACACACCACACACACATCACATACCACACACAAACCACAC ACCCAACACACACATCACACACCACACACCCCACACACACATCACATACC ACACACAAACCACACACCCCACACACACATCACATACCACACACAAACCA CACACCCCCACACACCCCACACACCCCACACACACCACACACCCCACACA CACACCACACACCCCACACACACATCACATACCACACACAAACCACACAC CCCACACACCCCACACACCACACACACACCACACACACATCACATACCAC ACACAAACCACACACCCTACACACACCACACACCCCACACACACCACACA CCCGACACACGCCACACACACACCACACACCCCACGCACACATCACATAC CACACACAAACCACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	338	0.0030	646	c.35 others(665): Show c.35+22426_*35+22427insCCTACACACACCACACACCCCACACA CACATCACACACCACACACACCACACACACCACACACACACCACACACAC ACATCACATACCACACACCCGACACACGCCACACACACACCACACACCCC ACGCACACATCACATACCACACACAAACCACACACCCTACACACACCACA CACCCCACACACACCACACACACACACCACACACACATCACATACCACAC ACAAACCACACACCCAACACACACATCACACACCACACACCCCACACACA CATCACATACCACACACAAACCACACACCCCACACACACATCACATACCA CACACAAACCACACACCCCCACACACCCCACACACCCCACACACACCACA CACCCCACACACACACCACACACCCCACACACACATCACATACCACACAC AAACCACACACCCCACACACCCCACACACCACACACACACCACACACACA TCACATACCACACACAAACCACACACCCTACACACACCACACACCCCACA CACACCACACACCCGACACACGCCACACACACACCACACACCCCACGCAC ACATCACATACCACACACAAACCACACACCCTACACACCCCACACACCCC ACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(639): Show ACACACACCACACCCTACACACACCACACACCCCACACACACATCACACA CCACACACACCACACACACCCCACACACACCACACACACACATCACATAC CACACACCCGACACACGCCACACACACACCACACACCCCACGCACACATC ACATACCACACACAAACCACACACCCTACACACACCACACACCCCACACA CACCACACACACACACCACACACACATCACATACCACACACAAACCACAC ACCCAACACACACATCACACACCACACACCCCACACACACATCACATACC ACACACAAACCACACACCCCACACACACATCACATACCACACACAAACCA CACACCCCCACACACCCCACACACCCCACACACACCACACACCCCACACA CACACCACACACCCCACACACACATCACATACCACACACAAACCACACAC CCCACACACCCCACACACCACACACACACCACACACACATCACATACCAC ACACAAACCACACACCCTACACACACCACACACCCCACACACACCACACA CCCGACACACGCCACACACACACCACACACCCCACGCACACATCACATAC CACACACAAACCACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01515.hp2 HG03239.hp1 others(3): Show HG01257.hp1 HG01515.hp2 HG03239.hp1 NA18952.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0001g0244 a0001c0001t0002g0148 others(3): Show a0001c0001t0001g0067 a0001c0001t0001g0244 a0001c0001t0002g0148 a0001c0001t0002g0210 a0001c0001t0002g0303 a0001c0001t0003g0260	6	338	0.0178	646	c.35 others(665): Show c.35+22426_*35+22427insCCTACACACACCACACACCCCACACA CACATCACACACCACACACACCACACACACCCCACACACACCACACACAC ACATCACATACCACACACCCGACACACGCCACACACACACCACACACCCC ACGCACACATCACATACCACACACAAACCACACACCCTACACACACCACA CACCCCACACACACCACACACACACACCACACACACATCACATACCACAC ACAAACCACACACCCAACACACACATCACACACCACACACCCCACACACA CATCACATACCACACACAAACCACACACCCCACACACACATCACATACCA CACACAAACCACACACCCCCACACACCCCACACACCCCACACACACCACA CACCCCACACACACACCACACACCCCACACACACATCACATACCACACAC AAACCACACACCCCACACACCCCACACACCACACACACACCACACACACA TCACATACCACACACAAACCACACACCCTACACACACCACACACCCCACA CACACCACACACCCGACACACGCCACACACACACCACACACCCCACGCAC ACATCACATACCACACACAAACCACACACCCTACACACCCCACACACCCC ACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTGGG others(639): Show CGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGT GGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGG GGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0021 a0002c0008t0004g0021	1	344	0.0029	646	c.218 others(663): Show c.2182+158_2182+159insGGTGGGGCTTGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA TGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGG CTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGT CGGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX3B_chrX_8459830_8471510	8466559	G G	GGGAAGAG others(639): Show GGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0024 a0009c0009t0024	a0009c0009t0024g0008 a0009c0009t0024g0008	1	271	0.0037	646	c.17 others(655): Show c.176_*177insGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		50		chrX	TogoVar

Search by Variant

Search

Search Results