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
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(750): Show GGGAGGGGGGAGGAGGGGGAGCGGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGA GGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGG GAGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGG GAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGG GGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0038 a0001c0006t0008g0038	1	168	0.0060	757	c.-26 others(766): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCT CCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCT CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCT GCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGC TCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCCTC CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCC GCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(750): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCACTACCACCACCACCACTATA ACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACCAC TACTGTAACCATCACCACCACCACTGCTATAACCATCACCACTACCACTA CTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCACCACC ACCACCATTATCACCATCACCATCACACACCACAACTACCACCACCACCA CCATCACCACTATAACCACTAGCACCACCACCACTACTATAACCATCACC ACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACCATCAC CACCATCACTGCTATAACCACCACCACCACCACTATAACCATCACCACCA TCACCACTATAACCACTAGCACCACCACCACTATAACCATCACCACCGCT ATAACCACCATCACCACCACCACTACCACTACTGTAACCATCACCACCAT CACTGCTATAACCACCACCACCACCACTATAACCACCACCACCATCACCA CTATAACCACCACTACCACCACCACCATTATAACCATCACCACCACCACT ATAACCACCATCATCATCACCACCACTACCACTACTGTAACCATCACCAC CATCACTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0130 a0001c0002t0006g0130	1	230	0.0044	757	c.724 others(776): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGGTGG TTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACA GTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTAT AGTGGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGATGGTTATAG TGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAGTAGTG GTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGTAGT GGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTG TGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGC AGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGG TTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAG TGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTG GTTATAGCAGTGATGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251007	A A	ACCCCCAC others(750): Show ACCCCCACACCCCCACACATCCCCCACACCCCCCACATCCCCCACACCCC CCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCA CATCCCCCACACCCCCCACACATCCCCCACACCCCCCACACCCCCACACC CCCACACCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACA CCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCC CACATCCCCCACACCCCCCACACATCCCCCACACCCCCCACACCCCCACA CACCCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACCCCC ACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACA TCCCCCACACCCCCCACACATCCCCCACACCCCCCACACCCCCACACACC CCCCACACCACACATCCCCCACACCCCCCACACCCCCACACCCCCACACA TCCCCCACACCCCCCACATCCCCCACACCCCCCACACATCCCCCACACCC CCCACATCCCCCACACCCCCCACATCCCCCACATCCCCCACACCCCCCAC ACATCCCCCACACCCCCCACACCCCCACACCCCCACACCCCCACACCCCC CACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACAC CCCCCACATCCCCCACATCCCCCACACCCCCCACACATCCCCCACACCCC CCACACCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	116	0.0086	757	c.207 others(776): Show c.2073+1325_2073+1326insCCCACACCCCCACACATCCCCCACAC CCCCCACATCCCCCACACCCCCCACACATCCCCCACACCCCCCACATCCC CCACACCCCCCACATCCCCCACATCCCCCACACCCCCCACACATCCCCCA CACCCCCCACACCCCCACACCCCCACACCCCCACACCCCCCACATCCCCC ACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATC CCCCACACCCCCCACATCCCCCACATCCCCCACACCCCCCACACATCCCC CACACCCCCCACACCCCCACACACCCCCCCACACCACACATCCCCCACAC CCCCCACACCCCCACACCCCCACACATCCCCCACACCCCCCACATCCCCC ACACCCCCCACATCCCCCACATCCCCCACACCCCCCACACATCCCCCACA CCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCC ACACCCCCACACCCCCACACATCCCCCACACCCCCCACATCCCCCACACC CCCCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCC CACATCCCCCACACCCCCCACACATCCCCCACACCCCCCACACCCCCACA CCCCCACACCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCA CACCCCCCACATCCCCCACACCCCCCACATCCCCCACATCCCCCACACCC CCCACACATCCCCCACACCCCCCACACCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DPEP1_chr16_89608642_89643433	89619208	C C	CCCCCTGC others(750): Show CCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGT AGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCC GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC TCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	250	0.0040	757	c.-10 others(776): Show c.-107+5493_-107+5494insTGCCCCCCCGCTCCCCTCCCTGTAGC CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(750): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA CACACACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp1 HG03139.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0117 a0001c0001t0001g0044 a0001c0001t0001g0117	2	198	0.0101	757	c.105 others(776): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA CACACACACACACACACACACACACAGACAG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(750): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGA CAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGA GAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAA CAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGA CAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGG AGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATA AGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACA GAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGA GAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACA CACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	198	0.0051	757	c.105 others(776): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGA GAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCA GAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCA GAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAG AGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAG GCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGA CAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGA GAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACA CACACACACACACACACACACACACAGACAG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(750): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAT ATATATGTATATACATATATATATGTATATACATATATATATATGTATAT ACATATAAATATATATGTATATACATATAAATATATATGTATATACATAT AAATATATATGTATATACATATAAATATATATGTATATACATATAAATAT ATATGTATGTATATTATATACATATAAATATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATTTATATACATATAAATATATATTTATATACATATAAATATATATT TACATACATATAAATATATATTTACATACATATAAATATATACATTTATA TACATATAAATATATACATATATACATATAAATATATATTTATATACATA TAAATATATATATTTATATATATTTATATATATATAAATATATATATATT TATATATATATAAATATATATATATTTATATATATATAAATATATATATA TTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	292	0.0034	757	c.51 others(768): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATACATATATATTTATATGTATATACATATATAT TTATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATATATGTATATAC ATATATATATGTATATACATATATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAT ATTTATATGTATATACATATATATTTATATGTATATACATATATTTATAT GTATATACATATATATTTATATGTATATAAATATATATTTATATGCATAT AAATATATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143218244	C C	CAACACCA others(750): Show CAACACCACCCCCACACCACCCCCACACCACCCAACACCACCCCCACACC ACCCCCACACCACCCCCAACACCATCCCCACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCATCCCCACACCACCCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACA CCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCC CCACACCACCCCCACACCACCCCCACACCACCCCCAACACCACCCCCAAC ACCACCCCCAACACCATCCCACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCACCCCCAACACCATCCCCACACCACCCCCA ACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCCAACACCATCCCCACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCATCCCCACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCA ACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	106	0.0094	757	c.27 others(768): Show c.2726_*2727insAACACCACCCCCACACCACCCCCACACCACCCAA CACCACCCCCACACCACCCCCACACCACCCCCAACACCATCCCCACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCACACCACCC CCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCA ACACCATCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCACACCA CCCCCAACACCACCCCCACACCACCCCCACACCACCCCCACACCACCCCC AACACCACCCCCAACACCACCCCCAACACCATCCCACACCACCCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCATC CCCACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCC CCAACACCATCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1075		chr8	TogoVar
HNF4A_chr20_44350699_44437845	44404806	G G	GTGAATTG others(750): Show GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGA CTCTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTG GTGTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTG TGGACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCA CGTGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGT GTGCGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGT GTGTGGATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGT GCTTGTGTGTGGTGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTG TGCTTGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCACGTGTGT GTGCGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0003 a0001c0001t0023g0003	1	322	0.0031	757	c.50- others(772): Show c.50-1252_50-1251insTGAATTGTGTGTGTGTATGTGTGGACTGTG CGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAAGTGTGTGTGCGTGT GTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGACTGCTGTGTGTGCGTGG ACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGT GTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGTGACC GTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGTGGTGCGTGTGTGCT TATGTTTGGCGTGTGTGTGTGTGTGTGTGTGTGGACTGTGTGGTCTGTGT GTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCATGTGTGCATGTATGT GCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCACGTGTGGGCTTATA TTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGTGTGTGCGTGTGT GGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGTGTGGACTGTGTG TGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGTGTGTGCATGACTGT GTGGTGTGTGTGTGCATGTGTGTGGATTGTGTGGTGTGTGTGGACTGTGG GTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGTGG ACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATTGTGTGGTG TGTGTGTGCGCACGTGTGTGTGCGTGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9			chr20	TogoVar
IFNAR1_chr21_33319970_33364864	33322915	A A	ATATATGG others(750): Show ATATATGGAATATATACGGAATATATATATAATATATATGGAATATATAT ATACGGAATATATATAATATATATACGGAATATATATATACGGAATATAT ATAATATATATACGGAATATATATATAATATATATATAATATATATACGG AATATATATATAATATATAAATGGAATATATATACGGAATATATATATAA TATATAAATGGAATATATATATACGGAATATATATATAATATATAAATGG AATATATATATACGGAATATATATATAATATATATATGGAATATATATAT ACGGAATATATATATAATATATATATGGAATATATATATACGGAATATAT ATATAATATATATATGGAATATATATATACGGAATATATATATTATATAT ATGGAATATATATATACGGAATATATATATAATATATATATGGAATATAT ATACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATG GAATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATG TGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATATAT ATATGGAATGTGTATATATGGAATATATATATATGGAATGTGTATATATG GAATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATG TGTATATATGGAATATATATATGGAATGTGTATATATGGAATATATATAT GGAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	323	0.0062	757	c.-21 others(768): Show c.-2141_-2140insTATATGGAATATATACGGAATATATATATAATAT ATATGGAATATATATATACGGAATATATATAATATATATACGGAATATAT ATATACGGAATATATATAATATATATACGGAATATATATATAATATATAT ATAATATATATACGGAATATATATATAATATATAAATGGAATATATATAC GGAATATATATATAATATATAAATGGAATATATATATACGGAATATATAT ATAATATATAAATGGAATATATATATACGGAATATATATATAATATATAT ATGGAATATATATATACGGAATATATATATAATATATATATGGAATATAT ATATACGGAATATATATATAATATATATATGGAATATATATATACGGAAT ATATATATTATATATATGGAATATATATATACGGAATATATATATAATAT ATATATGGAATATATATACGGAATATATATATATGGAATATATATATATG GAATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATA TATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGTAT ATATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATG GAATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATA TATATATATGGAATGTGTATATATGGAATATATATATGGAATGTGTATAT ATGGAATATATATATGGAATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2054		chr21	TogoVar
INS_chr11_2154779_2166209	2161848	G G	GACCCCTG others(750): Show GACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCGGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCG GGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCG GGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCC TGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC AGACCCCTGTCCCCAGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	376	0.0027	757	c.-69 others(766): Show c.-699_-698insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGAC AGGGGTCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGGACAGGGGTCCCGGGGACAGGGGT GTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTC CCGGGGACAGGGGTGTGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		640		chr11	TogoVar
JAKMIP3_chr10_132060946_132189858	132172990	T T	TCCCTCTC others(750): Show TCCCTCTCCTTCCCTCCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTCTC CCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCC CTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCC CCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCTCTCTCTCTCCCTCTC CTTCCCTCTCTCTCTCTCCCCCTCCCTTCCCCTCTCTCTCTCCCCCTCTC CTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTCC CTCTCTCTCTCCCCCCCTCTCTTCCCTCTCTCTCTCTCCCCCTCTCCTTC CCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCTCCCCCTCTCCT TCCCTCTCTCCCTCCCCCTCTCCTTCCTCTCTCCTTCCCCCTCTCCTTCC CCCTCTCCTTCCCCCTCTCCCTCCCCCTCTTCCTTCCCTCTCTCCCTCCC CCATCTCCTTCCCTCTCTCCCTCTCCCCCTCTCCTTCCCTCTCTCTCCCT CTCCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCCTTCCCTCT CTCTCTCTCCCCTTCCCTCTCTCCTCCCCCTCTCCTTCCCTCTCTCTCCC TCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCC TCTCTCTCCCTCTCCCTCCCTCTCCTCCCTCTCCCTCCCTCTCCCTCCCT CTCTCTCC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0028 a0001c0015t0028	a0001c0015t0028g0017 a0001c0015t0028g0017	1	158	0.0063	757	c.11 others(778): Show c.1103+3958_*1103+3959insCCTCTCCTTCCCTCCCTCCCTCTC TCTCCCTCTCCTTCCCTCTCTCTCCCCTCTCCTTCCCTCTCTCTCCCCCT CTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCC CTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCT CTCCTTCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCCC TTCCCCTCTCTCTCTCCCCCTCTCCTCCCTCTCTCTCTCCCCCTCTCCTT CCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCTCTCTTCCC TCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCC TCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCTTC CTCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCCTCCCC CTCTTCCTTCCCTCTCTCCCTCCCCCATCTCCTTCCCTCTCTCCCTCTCC CCCTCTCCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTT CCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCTCCCCTTCCCTCTCTCCTC CCCCTCTCCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCC TCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCCT CCCTCTCCCTCCCTCTCCCTCCCTCTCTCTCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(750): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCAC AGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCC CACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCACCCCCCCACAGCCGCCCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG TCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCC CCACAGCT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0144 a0002c0004t0001g0144	1	312	0.0032	757	c.-41 others(772): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCC CCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCAC CCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCACCCCCCCACAGCCGCCCCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GTCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCC ACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCC CCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(750): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCAC AGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCC CACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCCACA GCCACCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG TCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCC CCACAGCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	312	0.0032	757	c.-41 others(772): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCC CCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCAC CCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GTCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCC ACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCC CCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(750): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCC CCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCAC CCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCACCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG TCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCC CCACAGCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0146 a0002c0004t0001g0146	1	312	0.0032	757	c.-41 others(772): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCC CCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCC CCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GTCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCC ACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCC CCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62360411	A A	AGGTGGGT others(750): Show AGGTGGGTGCGTGGGTGAATAGGTAGGGGGGTGGGTGGGTGGATAAGTGG CGGGTGGGTGGGTGCATAGGTAGGGGGGTGGGTGGCTGGGTGGATAGGTA TGGGGGTGGATGGGTCAGCAGGCAGCGGGATGGGATAGGATAGGTGGGTG GATAGGTGGGGGCTGGGTGGATAGGTGGGGGGCGGGTGGGTGGGTCAGCA GGCAGAGGGATGATGGAATAGGATGGGTGGGTGGGTGGATAGGTAGGGAG GTGGGTGAGTAGGTGGGTGGATAGGTGGGGGGGTGGGTGGGTCAGCAGGC AGCGGGATGGGATAGGATAGGTGGGTGGATGGGTGGATAGGTGGGGGGGT GGGTAGGTGGGGGGTGGGGGGTGGATAGGTAGGTGGGTGGGTGGGTGGAT AAGTTGGGGGGTGGGTGGGTGCATAGGTAGGGGGGTGGATGGGTCAGCAG GCAGCGGGATGGGATAGGATAGGTGGGTGGATAGGTGGGGGGTGGGTGGC TGGGTGGGTCAGCAGGTAGCAGGATGGGCTAGGATAGGTGGGTGGGTGGA TGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGAAGGATA GGTGGGTGGGTGGGTGGAGGGATAGATGGGGGGGTGGGTGGGTGGAGGGA TAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGA GGGATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGAAG GATAGGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0176 a0006c0012t0001g0176	1	186	0.0054	757	c.450 others(774): Show c.450+1988_450+1989insCACCTATCCTTCCACCCACCCATCTATC CCTCCACCCACCCACCCCCCCATCTATCCCTCCACCCACCCACCACCCAT CTATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACCCC CCCATCTATCCCTCCACCCACCCACCCACCTATCCTTCCACCCACCCATC TATCCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCTATCCT AGCCCATCCTGCTACCTGCTGACCCACCCAGCCACCCACCCCCCACCTAT CCACCCACCTATCCTATCCCATCCCGCTGCCTGCTGACCCATCCACCCCC CTACCTATGCACCCACCCACCCCCCAACTTATCCACCCACCCACCCACCT ACCTATCCACCCCCCACCCCCCACCTACCCACCCCCCCACCTATCCACCC ATCCACCCACCTATCCTATCCCATCCCGCTGCCTGCTGACCCACCCACCC CCCCACCTATCCACCCACCTACTCACCCACCTCCCTACCTATCCACCCAC CCACCCATCCTATTCCATCATCCCTCTGCCTGCTGACCCACCCACCCGCC CCCCACCTATCCACCCAGCCCCCACCTATCCACCCACCTATCCTATCCCA TCCCGCTGCCTGCTGACCCATCCACCCCCATACCTATCCACCCAGCCACC CACCCCCCTACCTATGCACCCACCCACCCGCCACTTATCCACCCACCCAC CCCCCTACCTATTCACCCACGCACCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(750): Show GCCCTCCCCTCCCCTCCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTC CCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTC CCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCT TCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCC CCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCCTC CCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTC CCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0168 a0002c0017t0001g0168	1	278	0.0036	757	c.115 others(774): Show c.1157+156_1157+157insCGTCCCCTCCCTTCCCCTCCCCTCCTCC CTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCC CTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCC TCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCT TCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCC CTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTC CATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTT CGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCC CTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCC CTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCC TCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCC CCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCT CCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(750): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAGATTTT ATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATAT ATATATAAAATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	330	0.0030	757	c.-5+ others(772): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAA TCTTATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCAT ATATATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATAAAAAATATATATCAAATATATATAA AATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(750): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAGATTTT ATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATAT ATATATAAAATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01106.hp2 others(3): Show HG00741.hp1 HG01074.hp2 HG01106.hp2 HG02647.hp2 HG02735.hp2 HG03471.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0010 a0001c0001 a0004c0005 a0005c0010	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0004c0005t0046 a0005c0010t0002 a0005c0010t0022	a0001c0001t0001g0246 a0001c0001t0010g0245 a0001c0001t0011g0156 others(3): Show a0001c0001t0001g0246 a0001c0001t0010g0245 a0001c0001t0011g0156 a0004c0005t0046g0244 a0005c0010t0002g0243 a0005c0010t0022g0242	6	330	0.0182	757	c.-5+ others(772): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAA TAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCAT ATATATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATAAAAAATATATATCAAATATATATAA AATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(750): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATGTTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAGATTTT ATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATAT ATATATAAAATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	330	0.0030	757	c.-5+ others(772): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAA TAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCAT ATATATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAACATATATAAAATAAG ATTTTATATATATATAAAATATATAAAAAATATATATCAAATATATATAA AATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158668214	C C	CCGTTACC others(750): Show CCGTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCC TAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC TGCCCTCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGT GTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCTGCCCTCC TTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCCTAG GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTAC CTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTT CCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTCCC TCTGCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	378	0.0027	757	c.147 others(776): Show c.1479+3299_1479+3300insAGGGCAGAGGGACCCAGTAGTGGGTA ACGGGGGGCGGAGGGACCCAGGGTCGGTAAGGAAGGCGGAGGGACCCAGT AGTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGG TAAGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGAGGGCAGAGGGACCCA GTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGG GCAGAGGGACCCAGTAGTGGGTAAGGAGGGCAGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAA GGAGGGCAGAGGGACCCAGTAGTGGGTAACG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
RANBP10_chr16_67718070_67811560	67809198	G G	GGTGGCTC others(750): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGC CTATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCC GGGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCT GGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACG GTGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGAT TGCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCC TGTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGC CAGGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	152	0.0066	757	c.-26 others(768): Show c.-2663_-2662insTGTGCCTGGCCAATATTTTGTATTGCTATTAGAA ACAGGGTTTTTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGACTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAGAAACAGGGTTTTTGCCATATTGTCTAGCCTG GTCTCGAACTCCTGAGCTCAGGCAATCTGCCTGCCTTGGCCTCCCAAAGT AATAGGATTATAGGGGTGAGCCACCGTGCCTGGCTGTGCTTTTTTTTTTG AGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGCGAGATCTT GGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGAGACTATAGGCACCCGCCACCACGGCCGGCTAATT TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGAT GGCCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCAC	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding		2639		chr16	TogoVar
RANBP10_chr16_67718070_67811560	67809198	G G	GGTGGCTC others(750): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGCC TATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCTG GGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACGG TGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGATT GCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCCT GTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCAAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGC CAGGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0148 a0001c0001t0007g0148	1	152	0.0066	757	c.-26 others(768): Show c.-2663_-2662insTGTGCCTGGCCAATATTTTGTATTGCTATTAGAA ACAGGGTTTTTTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGACTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAGAAACAGGGTTTTTGCCATATTGTCTAGCCT GGTCTCGAACTCCTGAGCTCAGGCAATCTGCCTGCCTTGGCCTCCCAAAG TAATAGGATTATAGGGGTGAGCCACCGTGCCTGGCTGTGCTTTTTTTTTT GAGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGCGAGATCT TGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGAGACTATAGGCACCCGCCACCACGGCCGGCTAAT TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGAT GGCCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCAC	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding		2639		chr16	TogoVar
RANBP10_chr16_67718070_67811560	67809198	G G	GGTGGCTC others(750): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGCC TATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCTG GGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACGG TGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGATT GCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCCT GTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGC CAGGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01891.hp1 HG02055.hp1 others(6): Show HG00741.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02486.hp2 HG02615.hp1 HG03209.hp2 HG03579.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0103 a0001c0001t0002g0003 a0001c0001t0002g0013 others(6): Show a0001c0001t0001g0103 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0041 a0001c0001t0009g0017 a0001c0001t0011g0015	9	152	0.0592	757	c.-26 others(768): Show c.-2663_-2662insTGTGCCTGGCCAATATTTTGTATTGCTATTAGAA ACAGGGTTTTTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGACTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAGAAACAGGGTTTTTGCCATATTGTCTAGCCT GGTCTCGAACTCCTGAGCTCAGGCAATCTGCCTGCCTTGGCCTCCCAAAG TAATAGGATTATAGGGGTGAGCCACCGTGCCTGGCTGTGCTTTTTTTTTT GAGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGCGAGATCT TGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGAGACTATAGGCACCCGCCACCACGGCCGGCTAAT TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGAT GGCCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCAC	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding		2639		chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79495485	A A	AAGGTGGG others(750): Show AAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGG GCAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAG GTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGT GGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCA GAGGGTGGGGAGGTGGGGGCAGGGGTACTGGAGGCAGGGATGGGGGTGCA GGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAG GGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGCAGA GGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGG TGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGG GAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAGGGGTACTGGAGGCAGGGA TGGGGGTGCAGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGA GGTGGGGCAGGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGGGA GGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGT GGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGG GGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGA GGGTGGGG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	154	0.0065	757	c.-31 others(778): Show c.-319-12888_-319-12887insCCCCACCCTCTGCACCCCTCCCCC ACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCC TCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTG CACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGC ATCCCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCAC CCCTCCCCCACCTTCCCACCTTCCTGCACCCCCATCCCTGCCTCCAGTAC CCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCC TCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCC CCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCC ACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCA CCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCTGCACCCCCATCCCTG CCTCCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCAC CTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTC CCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCA CCCCTCCCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCCTGCCC CACCTCCCCACCCTCTGCACCCCTCCCCCACCT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RPH3AL_chr17_207389_357807	315237	T T	TTGGCCTG others(750): Show TTGGCCTGTAGTCCCTGTACTCCACGTAGATTGACCTGTAGTCTCTGTGC TCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTCACCTGTA GTCCCTGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCA TTGACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGTCTCTGTG CTCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGT AGTCTCTGTGACCCCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTC CATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGT GCCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCAG TAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTC CATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGCAGTCTCTGT ACTCCATGTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCATTGAACT GTATACCCTGTGCCCCACCTCCATTGACCTGTAGTCCCTGTGACTCCACC TCCATTGACCTGTAGTCTCTGTGCTCCACCTCCACTGACCTGTAGTCTCT GTGCCCCACCCCCATTGACCTGTAGTCTCTGTGACCCCACCTTGATTGAC CTGTAGTCCCTGTGCCCCCACCTCCACTTACCTGTAGTCTCTGTGTCCCC ACCTCTAC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0017 a0017	a0017c0007 a0017c0007	a0017c0007t0014 a0017c0007t0014	a0017c0007t0014g0023 a0017c0007t0014g0023	1	133	0.0075	757	c.351 others(774): Show c.351+4182_351+4183insGTAGAGGTGGGGACACAGAGACTACAGG TAAGTGGAGGTGGGGGCACAGGGACTACAGGTCAATCAAGGTGGGGTCAC AGAGACTACAGGTCAATGGGGGTGGGGCACAGAGACTACAGGTCAGTGGA GGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGAGTCACAGGGACTAC AGGTCAATGGAGGTGGGGCACAGGGTATACAGTTCAATGGAGGTGGAGTC ACAGGGACTACAGGTCAATGGACATGGAGTACAGAGACTGCAGGTCAATG GAGGTGGGGCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACTA CAGGTCAATGGAGGTGGGGCACAGGGACTACTGGTCAATGGAGGTGGAGC ACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAATG GAGGTGGAGCACAGAGACTACAGGTCAATGGACGTGGAGTACAGGGACTA CAGGTCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGGAGGTGGAG CACAGAGACTACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAAT GGAGGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGAC TACAGGTCAATGGACGTGGAGTACAGGGACTACAGGTGAATGGAGGTGGA GCACAGAGACTACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAA TCTACGTGGAGTACAGGGACTACAGGCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(750): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAA AGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAA GGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGA GGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGA AGGAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGGAGAAGGCAGA GGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGA AGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAG GGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGA GGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGG GAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGA AAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGG AGAGAATAGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAG AAGAGAAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04115.hp2 NA18994.hp1 others(1): Show HG03831.hp1 HG04115.hp2 NA18994.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0004t0017 a0001c0005t0008 a0001c0001t0001 a0001c0004t0017 a0001c0005t0008	a0001c0001t0001g0234 a0001c0004t0017g0138 a0001c0004t0017g0145 others(1): Show a0001c0001t0001g0234 a0001c0004t0017g0138 a0001c0004t0017g0145 a0001c0005t0008g0235	4	314	0.0127	757	c.916 others(774): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCC TTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTC CTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTC TCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCC CTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTC CTCCTCCTTCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTCCTCCT CCTCTTTCTCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCUBE1_chr22_43192280_43348372	43339728	A A	ATCCCCCC others(750): Show ATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCC CCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCA CAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACA AGCATCACTCCAGCCCTCCCCTACTCTCCTCATTCTATCCCCCCACAAGC ATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCAT TGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCATAGCT CCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCC AGCCCTCCCCTACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAAC CCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCC TCCCCCACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCT ACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCAC TCTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACTCT CCTCATTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCT CATTCTAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0022 a0016c0032t0022	a0016c0032t0022g0075 a0016c0032t0022g0075	1	280	0.0036	757	c.89- others(770): Show c.89-494_89-493insATAGAATGAGGAGAGTAGGGGAGGGCTGGAGT GATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGAAGCAAT GCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGC TTGTGGGGGGATAGAATGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTG TGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTG GGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGG GATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGA TAGAATGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAAT GAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAG GAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGA GAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAG TGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGG GGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGG GAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAG GGTTGGAGCAATGCTTGTGGGGGGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339864	A A	ACTCTATG others(750): Show ACTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATT CTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTA TCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCC CCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCC CCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCA CAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACA AGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGC ATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATC GCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACT CCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCAAC CCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTC CCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACCCTCC CCCCACTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAACCCTCCC CCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCTA CTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTC TCCTCACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0029 a0005c0029	a0005c0029t0014 a0005c0029t0014	a0005c0029t0014g0240 a0005c0029t0014g0240	1	280	0.0036	757	c.89- others(770): Show c.89-630_89-629insAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATG CTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCAATGCTT GTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTG GGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGG GGGGGGTAGAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGG GGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGA TAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAG TGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGA GAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGATAGAATGAGGAGAG TGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTG GGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG GGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGA GGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGG GTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTG GAGCAATGCTTGTGGGGGCATAGAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(750): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCATGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCATGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0085 a0001c0010t0002g0085	1	116	0.0086	757	c.199 others(776): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCATGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCATGCAGAGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGTAG others(750): Show CCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0035 a0035	a0035c0052 a0035c0052	a0035c0052t0062 a0035c0052t0062	a0035c0052t0062g0019 a0035c0052t0062g0019	1	116	0.0086	757	c.199 others(776): Show c.1994+2071_1994+2072insCACGTAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGT CCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(750): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTC CCGGGGCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0017 a0012c0015t0017	a0012c0015t0017g0059 a0012c0015t0017g0066 a0012c0015t0017g0059 a0012c0015t0017g0066	2	116	0.0172	757	c.199 others(776): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(750): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATTCCATATATA TATATTCCATATATATATTCCATATATATTCCATATATATATTCCATATA TATATTCCATATATATATATATTCCATATATATATTCCATATATATATTC CATATATATATTCCATATATATATTCCATATATATATATATTCCATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	324	0.0031	757	c.115 others(774): Show c.115-2706_115-2705insATATATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATATATGGAATATATATATGGAATATATATATGG AATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
TCF3_chr19_1604292_1657615	1628391	C C	CAGGGGAT others(750): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGC AGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0235 a0001c0003t0055g0235	1	352	0.0028	757	c.299 others(772): Show c.299-966_299-965insCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCATGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCC GCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTG CTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCATCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124011	T T	TATAATAT others(750): Show TATAATATACCTATTATATATAAAATATACCTATTATATATAATATACCT ATTATATACATTATATATAATATACCTATTATATGCATTATATATAATAT ACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATATA ATATACCTATTATATGCATTATATATAATATACCTATTATATGCATTATA TAATATATTATATATAATATGCATATTATATGTATTATATATTATATATT ATATATATAATATACATATTATATGTATTATATATTATATATTATATATA TAATATACATATTATATGTATTATATATTATATATAATATACATATTATA TATTATATATTATATACATATTATATATTATATATTATATACATATTATA TATTATATACATATTATATATTATATATTATATACATATTATACATTATA TATATCTAAAATATATAATACACATTATATATTATATAATACACATTATA TATAATATATAATACACATATATATTATATATAATACACATTATATATTA TATATAATACACATTATATATTATATAATACACATTATATATTATATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATATAATACACATTATATATTATA TATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0123 a0001c0002t0011g0123	1	360	0.0028	757	c.62 others(768): Show c.6207_*6208insGTATTATATATAATATATAATGTGTATTATATAT ATAATGTGTATTATATATAATATATAATGTGTATTATATAATATATAATG TGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTA TTATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTAT ATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAA TATATATGTGTATTATATATTATATATAATGTGTATTATATAATATATAA TGTGTATTATATATTTTAGATATATATAATGTATAATATGTATATAATAT ATAATATATAATATGTATATAATATATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATATAATATGTATATTATATATAATAT ATAATACATATAATATGTATATTATATATATAATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGCATATTATATATAATATATTATATAATGCATATAATAGGTATATTAT ATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATA TTATATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGG TATATTATATATAATGTATATAATAGGTATATTATATATAATAGGTATAT TTTATATATAATAGGTATATTAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3373		chr20	TogoVar
THEG_chr19_356747_381026	376720	G G	GCCCCACC others(750): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCC CGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0079 a0001c0001t0014g0079	1	370	0.0027	757	c.-75 others(766): Show c.-751_-750insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAG AGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		695		chr19	TogoVar
TSNAXIP1_chr16_67801889_67833068	67809198	G G	GGTGGCTC others(750): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGC CTATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCC GGGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCT GGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACG GTGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGAT TGCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCC TGTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGC CAGGCACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01993.hp1 HG02976.hp2 HG01346.hp1 HG01993.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0196 a0001c0001t0001g0015 a0001c0001t0001g0196	3	256	0.0117	757	c.47+ others(772): Show c.47+2045_47+2046insGGTGGATCACGAGGTCAGGAGATCGAGGCC ATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA AATTAGCCGGCCGTGGTGGCGGGTGCCTATAGTCTCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCC AAGATCTCGCCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCT CAAAAAAAAAAGCACAGCCAGGCACGGTGGCTCACCCCTATAATCCTATT ACTTTGGGAGGCCAAGGCAGGCAGATTGCCTGAGCTCAGGAGTTCGAGAC CAGGCTAGACAATATGGCAAAAACCCTGTTTCTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGTCTCCCAAGCAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAAAACCCTGT TTCTAATAGCAATACAAAATATTGGCCAGGCACAGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGTG	TSNAXIP1	ENSG00000102904.15	transcript	ENST00000561639.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
TSNAXIP1_chr16_67801889_67833068	67809198	G G	GGTGGCTC others(750): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGCC TATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCTG GGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACGG TGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGATT GCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCCT GTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCAAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGC CAGGCACA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	256	0.0039	757	c.47+ others(772): Show c.47+2045_47+2046insGGTGGATCACGAGGTCAGGAGATCGAGGCC ATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA ATTAGCCGGCCGTGGTGGCGGGTGCCTATAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCA AGATCTCGCCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTC AAAAAAAAAAGCACAGCCAGGCACGGTGGCTCACCCCTATAATCCTATTA CTTTGGGAGGCCAAGGCAGGCAGATTGCCTGAGCTCAGGAGTTCGAGACC AGGCTAGACAATATGGCAAAAACCCTGTTTCTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGTCTCCCAAGCAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAAAAACCCTGT TTCTAATAGCAATACAAAATATTGGCCAGGCACAGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGTG	TSNAXIP1	ENSG00000102904.15	transcript	ENST00000561639.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
TSNAXIP1_chr16_67801889_67833068	67809198	G G	GGTGGCTC others(750): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGCC TATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCTG GGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACGG TGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGATT GCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCCT GTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGC CAGGCACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02486.hp2 others(4): Show HG00741.hp1 HG01891.hp1 HG02486.hp2 HG02615.hp2 HG03209.hp2 HG03579.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0088 a0001c0001t0001g0198	7	256	0.0273	757	c.47+ others(772): Show c.47+2045_47+2046insGGTGGATCACGAGGTCAGGAGATCGAGGCC ATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA ATTAGCCGGCCGTGGTGGCGGGTGCCTATAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCA AGATCTCGCCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTC AAAAAAAAAAGCACAGCCAGGCACGGTGGCTCACCCCTATAATCCTATTA CTTTGGGAGGCCAAGGCAGGCAGATTGCCTGAGCTCAGGAGTTCGAGACC AGGCTAGACAATATGGCAAAAACCCTGTTTCTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGTCTCCCAAGCAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAAAACCCTGT TTCTAATAGCAATACAAAATATTGGCCAGGCACAGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGTG	TSNAXIP1	ENSG00000102904.15	transcript	ENST00000561639.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
VCX2_chrX_8164944_8176267	8169599	C C	CCCTCCCT others(750): Show CCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACA CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCC CACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0001 a0014c0032t0001	a0014c0032t0001g0040 a0014c0032t0001g0040	1	115	0.0087	757	c.43 others(766): Show c.432_*433insAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		344		chrX	TogoVar
WDR7_chr18_56646359_57034792	57024934	A A	AATCCCTA others(750): Show AATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGT CCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATG TGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTC AGGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGAT TTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATA GTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAG GGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCC TATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTT ACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGC TATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCA GGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCAC ATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATG TCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATAT GTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCT CAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAA TTTCACAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	144	0.0069	757	c.427 others(776): Show c.4270-2056_4270-2055insACAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAAT AGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATC CCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCC TTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA ACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTT ATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTAT TCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACA GGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(750): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC AAGTATATATATATACTTGTATATATATATACAAGTATATATATATACTT GTATACATATATACTATATATATACGTATATACACGTATATACGTATATA TGTATATATACGTATATACATGTATATATACGTATATACATGTATATACG TATATATACACATATATACATGTATATATACGTATATATACACATATATA CATGTATATATATACGTATATATACACATATATACATGTATATATATACG TATATATACACATATATACATGTATATATATACGTATATATACACATATA TACATGTATATATACATGTATATATACACATATATACATGCGTATATATA TACGTATATATACATGTATATATATACGTATATATACACATATATACATG TATATATATACGTATATATACACATATATACATGTATATATATACGTATA TATACACATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATATACGTATATATACACATATATACATGTATATATACACATA TATACATGCGTATATATATACGTATGTATATATGTATATATACGTATATA CATGTATATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATATACATGTATATATATGTGTGTATATATATACGTA TATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0049 a0002c0002t0003g0049	1	383	0.0026	757	c.-42 others(768): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACAAGTATATATATATACTTGTATATATATATACAAG TATATATATATACTTGTATACATATATACTATATATATACGTATATACAC GTATATACGTATATATGTATATATACGTATATACATGTATATATACGTAT ATACATGTATATACGTATATATACACATATATACATGTATATATACGTAT ATATACACATATATACATGTATATATATACGTATATATACACATATATAC ATGTATATATATACGTATATATACACATATATACATGTATATATATACGT ATATATACACATATATACATGTATATATACATGTATATATACACATATAT ACATGCGTATATATATACGTATATATACATGTATATATATACGTATATAT ACACATATATACATGTATATATATACGTATATATACACATATATACATGT ATATATATACGTATATATACACATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATATACGTATATATACACATATATACAT GTATATATACACATATATACATGCGTATATATATACGTATGTATATATGT ATATATACGTATATACATGTATATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATATACATGTATATATATGTGT GTATATATATACGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB5_chr7_20610667_20762008	20668935	A A	ACCCCTCT others(751): Show ACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTGGGG GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGGGGTGGAGGG GTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGAT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCCCCCCCCCGGCCGGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0004 a0021c0038t0004	a0021c0038t0004g0058 a0021c0038t0004g0059 a0021c0038t0004g0058 a0021c0038t0004g0059	2	360	0.0056	758	c.170 others(779): Show c.1707+10331_1707+10332insAGTCCGGGAGGGAGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGGGGTGGA GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCCCCCCCCCGGCCG GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(751): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCACTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATCCACCCATCCATTCATCCATTCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCACTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTTACCTACCCATTAATTCACCCA CCCTTCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCC ATCCATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCAT CTCACCCATTCACCCATCCACTCATCCATTCACCTATCCACCCACCCATC CACTCATCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG04199.hp2 HG03491.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0083 a0001c0002t0002 a0001c0002t0083	a0001c0002t0002g0123 a0001c0002t0083g0216 a0001c0002t0002g0123 a0001c0002t0083g0216	2	262	0.0076	758	c.775 others(773): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAGTGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGG GTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATGGATG GGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGT GAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(751): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATCCACCCATCCATTCATCCATTCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCACTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTTACCTACCCATTAATTCACCCA CCCTTCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCC ATCCATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCAT CTCACCCATTCACCCATCCACTCATCCATTCACCTATCCACCCACCCATC CACTCATCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp2 HG02280.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0043 a0001c0002 a0001c0043	a0001c0002t0079 a0001c0043t0086 a0001c0002t0079 a0001c0043t0086	a0001c0002t0079g0150 a0001c0043t0086g0171 a0001c0002t0079g0150 a0001c0043t0086g0171	2	262	0.0076	758	c.775 others(773): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAGTGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGG GTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATGGATG GGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGT GAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(751): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATCCACCCATCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATCCACCCATCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATTCACCCACCCATTTACCTACCCATTAATTCACCCA CCCTTCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCC ATCCATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCAT CTCACCCATTCACCCATCCACTCATCCATTCACCTATCCACCCACCCATC CACTCATCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0066 a0001c0002t0066	a0001c0002t0066g0190 a0001c0002t0066g0190	1	262	0.0038	758	c.775 others(773): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGG GTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGGTGAATGGATG GGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGT GAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(751): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCACTCATCCATCCACCCATCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCATCCATTCATCCATCCACC CATCCACCCATCCATTCGCCCACCCATTTACCTACCCATTAATTCACCCA CCCTTCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCC ATCCATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCAT CTCACCCATTCACCCATCCACTCATCCATTCACCTATCCACCCACCCATC CACTCATCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0238 a0001c0002t0003g0238	1	262	0.0038	758	c.775 others(773): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGGGTGGATGGGTGGATGGATGAATGGATGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAGTGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGG GTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGGTGAATGGATG GGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGT GAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581231	T T	TATGTATA others(751): Show TATGTATACGTATACACACATATACGTATACGTATACACACATATACGTA TACGTATACACACATATACGTATACGTATACACACATATACGTATACGTA TACACACATATACGTATACGTGTACACACATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACGCACACATATACACGTATATA CGTATACGTGTACGCACATATATATACACGTATATACGTATACGTGTACG CACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACA CGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACATACACGTATA TACGTATACGTGTACACACACATACACGTATATACGTATACGTGTACACA CACATACACGTATATACCTATACGTGTACACACATATACCTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0075 a0001c0004t0075	a0001c0004t0075g0004 a0001c0004t0075g0004	1	169	0.0059	758	c.48- others(775): Show c.48-70767_48-70766insTGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTATACACACATATACGTATACGTATA CACACATATACGTATACGTATACACACATATACGTATACGTGTACACACA TATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACG CACACATATACACGTATATACGTATACGTGTACGCACATATATATACACG TATATACGTATACGTGTACGCACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACATACACGTATATACGTATACGTGTACACACACATACACGTA TATACGTATACGTGTACACACACATACACGTATATACCTATACGTGTACA CACATATACCTATACGTGTACACACATATACACGTATACGTGTACACACA TATACACGTATACGTGTACACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(751): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTATACACACATATACACGTATACGTA TACGTATACACACATATACACGTATACGTATACGTATACACACATATACA CGTATATACGTATACGTGTACACACATATACACGTATATACGTATACGTG TACACACATATATACACGTATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACA CGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACATACA CGTATACGTGTACACACACATACACGTATACGTGTACACACACATACACG TATACGTGTACACACACATACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATATA CGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACACA TATACACGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0101 a0001c0001t0039g0101	1	169	0.0059	758	c.48- others(775): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACGTATACGTATACACACATAT ACGTATACGTATACACACATATACGTATACGTATACACACATATACACGT ATACGTATACGTATACACACATATACACGTATACGTATACGTATACACAC ATATACACGTATATACGTATACGTGTACACACATATACACGTATATACGT ATACGTGTACACACATATATACACGTATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTAC ACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATAC GTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACATACACGTATACGTGTACACACACATACACGTATACGTGTACACACAC ATACACGTATACGTGTACACACACATACGTATACGTGTACACACATATAC ACGTATACGTGTACACACATATACACGTATACGTGTACACACATATACAC GTATATACGTATACGTGTACACACATATACACGTATATACGTATACGTGT ACACACATATACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(751): Show GAAGGGAAGGGGAAGGGAAGGGAAGGAAGGGGAAGGGAAAGGGAAGGGAA AGGGAAGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAG GGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGG GAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAGG GAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAGG AAGGGGAAGGAAGGGGAAAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAA GGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGG AAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAAGGGAAGGGGAAGG GGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAG GGAGGGGAAGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGG AGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGA AGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGACGGACAGGAC GAAAAAAAGAGAGGGGACGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAA AAAGGGAAGGGAGGAAGGAAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGG AGAGAGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	242	0.0041	758	c.927 others(775): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCCT CCCCTCTCTTCCCGTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCGT CCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTTT CTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTCC TTTTCCTTCCCCTTCCCCTTCCTTCCCCTCCCTTTCCCTTCCCCTCTCCT TTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTTCCC TTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCC TTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTT CCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCTTTTCCCCTTCCTTCCCCTTCCTTCCCCTTCCCTTCCTT TTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTT TTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCT TTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCT TCCCTTCCCTTTCCCTTCCCTTTCCTTCCCTTTCCCTTCCCTTTCCCTTC CCCTTCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar

Search by Variant

Search

Search Results