Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FUT7_chr9_137025174_137037088	137034341	G G	GTTTGGAG others(683): Show GTTTGGAGGGAGGGGGGCTGGAGGGAGGGGGCTTGGAGGGAGGGGGTTTG GGGAGGCTAAAGGGAGGGGAACTTGGAAGGAGGGGGGTTTGGAGGGAGAG GGGTTTGGAGGGAGGGTGGCTTGGAGGGAGGGGGGTTTGGAGGGAGGGGG CTTGGAGAGAGGGGGGTTTGGAGGGAGGGGGCTGGAGGGAGGGGAGCTTG GAGGGGAGCTTGGAGGGGGTTCGGAGGGGGGGCTTGGAGGGAGGGGAGTT TGGAGGGAGGGGAGCTTGGAGGGAGGGGGGTTTAGAGGGAGGGAGCTGGA GGGAGGGGAGCTTGGAGGGGAGCTTGGAGGGAGGGGGTTCGGAGGGGGGA CTTGGAGGGAGGGGGCTTGGAGGGAGGGGGGCTTGGAGGGAGGGGGGCTT GGAGGGAGGGGAGTTTGGAGGGAGGGGGCTGGAGGGAGGGGAGCTTGGTG GGGAGCTTGGAGGGAGGGGAGCTTGGAAGGAGGGGGGTTTGGAGGGAGGG GGTTTGGAGGGAGGGCGGCTTGGAGGGAGGGGGGTTTGGAGGGGGGGGCT TGGAGAGGGGGGTTTGGAAGGAGGGGACGAGGGAGGGGAGCTTGGAGGGG AGCTTGGAGGGAGGGGGTTCGGAGTGGGGGCTTGGAGGGAGGGGGCTTGG AGGGAGGGGGCTTGGAGGGAGGGGGGCTTGGAGGGAGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01099.hp2 others(11): Show HG00140.hp2 HG00733.hp1 HG01099.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01978.hp2 HG02300.hp1 NA20129.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0003c0004	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0006t0001g0010 a0001c0007t0001g0011 others(1): Show a0001c0001t0001g0001 a0001c0006t0001g0010 a0001c0007t0001g0011 a0003c0004t0001g0006	14	356	0.0393	690	c.-23 others(701): Show c.-2351_-2350insACCCCTCCCTCCAAGCCCCCCTCCCTCCAAGCCC CCTCCCTCCAAGCCCCCTCCCTCCAAGCCCCCACTCCGAACCCCCTCCCT CCAAGCTCCCCTCCAAGCTCCCCTCCCTCGTCCCCTCCTTCCAAACCCCC CTCTCCAAGCCCCCCCCTCCAAACCCCCCTCCCTCCAAGCCGCCCTCCCT CCAAACCCCCTCCCTCCAAACCCCCCTCCTTCCAAGCTCCCCTCCCTCCA AGCTCCCCACCAAGCTCCCCTCCCTCCAGCCCCCTCCCTCCAAACTCCCC TCCCTCCAAGCCCCCCTCCCTCCAAGCCCCCCTCCCTCCAAGCCCCCTCC CTCCAAGTCCCCCCTCCGAACCCCCTCCCTCCAAGCTCCCCTCCAAGCTC CCCTCCCTCCAGCTCCCTCCCTCTAAACCCCCCTCCCTCCAAGCTCCCCT CCCTCCAAACTCCCCTCCCTCCAAGCCCCCCCTCCGAACCCCCTCCAAGC TCCCCTCCAAGCTCCCCTCCCTCCAGCCCCCTCCCTCCAAACCCCCCTCT CTCCAAGCCCCCTCCCTCCAAACCCCCCTCCCTCCAAGCCACCCTCCCTC CAAACCCCTCTCCCTCCAAACCCCCCTCCTTCCAAGTTCCCCTCCCTTTA GCCTCCCCAAACCCCCTCCCTCCAAGCCCCCTCCCTCCAGCCCCCCTCCC TCCAAA	FUT7	ENSG00000180549.8	transcript	ENST00000314412.7	protein_coding		2254		chr9	TogoVar
GPR173_chrX_53043789_53085615	53073912	A A	AAATATAT others(683): Show AAATATATATATTTATATTTATTTATATATATAAATATATATATTTATAT TTATTTATATATATAAATATATATATTTTATATTTATATATATATATAAA TATATATATTTATATATATATATAAATATATATATTTATATTTATTATAT ATATAAATATATATATTTATATTTATTTATATATAATATAAATATATATA TTTATATTTTAATTTATATATTTATATTTATATATATAAATATATATATT TATATTTATTTATATATATAAAAATTATATATTAATATATATTTATATAT ATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATAT AAATATATATATTTATATATATAAAATATATATTTTATATATAAATATAT ATATTTATATATAAATATATATATAAATATATATATTTATATATTAAATA TATATATTTTATATATAAATATATATATTTATATATATAAATATATATAT TTATATATATAAATATATATATATTTTATATTTACAAATATATATATTTA TATATATATTTATATTTATATATATTTATATTTATATATATATATATAAA TATATATTTATGTATATTTATATATAAATATAAATATATATTTATATATA AATATAAATATATATTTATATATAAATATAAATATATATTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0137 a0002c0004t0026g0137	1	203	0.0049	690	c.-97 others(707): Show c.-97-2612_-97-2611insATATATATATTTATATTTATTTATATAT ATAAATATATATATTTATATTTATTTATATATATAAATATATATATTTTA TATTTATATATATATATAAATATATATATTTATATATATATATAAATATA TATATTTATATTTATTATATATATAAATATATATATTTATATTTATTTAT ATATAATATAAATATATATATTTATATTTTAATTTATATATTTATATTTA TATATATAAATATATATATTTATATTTATTTATATATATAAAAATTATAT ATTAATATATATTTATATATATAAATATATATATTTATATATAAATATAT ATTTATGTATATTTATATATAAATATATATATTTATATATATAAAATATA TATTTTATATATAAATATATATATTTATATATAAATATATATATAAATAT ATATATTTATATATTAAATATATATATTTTATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATAAATATATATATATTTTATA TTTACAAATATATATATTTATATATATATTTATATTTATATATATTTATA TTTATATATATATATATAAATATATATTTATGTATATTTATATATAAATA TAAATATATATTTATATATAAATATAAATATATATTTATATATAAATATA AATATATATTTA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46635733	C C	CTATCCTC others(683): Show CTATCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGGCCGTG TCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTT CCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCT GCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCC CCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGC CCCCGGCCACTCCTGTCCTGGGAGGGCCGTGTCCTCCCTGCCCCCACCCC CGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGC CACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACT CCTGTCCTGGGGAACCGTGTCTTCCCTGCCCCCGCCCCTGGCCACTCCTG TCCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCT GGGAGGCCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGA GGCCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCC GTGTCCTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACTGTGTC CTCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0005 a0001c0001t0012g0005 a0001c0001t0001g0005 a0001c0001t0012g0005	2	256	0.0078	690	c.163 others(707): Show c.163-2107_163-2106insTATCCTCCCTGCCCCCGCCCCCGGCCAC TCCTGTCCTGGGAGGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCC TGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTC CTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGG GAGGCCGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGG CCCTATCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGGCCG TGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTC TTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCC CTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGC CCCCGCCCCTGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCC ACCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCC CTGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCTGG CCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCGCCCCCGGCCACT CCTGTCCTGGGGGACTGTGTCCTCCCTGCCCCCACTCCCAGCCACCCCTG TCCAGGGGAGCT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635747	C C	CCCCGACC others(683): Show CCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCC GACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACC CCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTG GCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCA CTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGACCCCGGCCACTCC TGTCCTCGGAGGCCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTC CTGGGGGACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGG GGAACCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGA CCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGT GTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCT TCCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCC TGCCCCCACCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCC CCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCAC TCCCAGCCACCCCTGTCCAGGGGAGCTGTGTCCTCCCTGCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0048 a0001c0001t0011g0048	1	207	0.0048	690	c.163 others(707): Show c.163-2090_163-2089insGACCCCGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTG TCCTCCCTGCCCCCGACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCC TCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCC TGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTC CCCGACCCCGGCCACTCCTGTCCTCGGAGGCCGTGTCCTCCCTGCCCCCA CCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGCCCC CGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCGGC CACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACT CCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTG TCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCT GGGAGGCTGTATCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGA GGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCG TGTCCTCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCTGTGTC CTCCCTGCTCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635747	C C	CCCCGCCC others(683): Show CCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCC GACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACC CCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGG CCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCAC TCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGACCACTCCT GTCCTGGGGGACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCC TGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCAGGG GAGCTGTGTCTTCCCTGCCCCCCACCCCTGGCCACTCCTGTCCTGGGAGG CCCTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCT ATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCC TCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCC TGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCC CCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCAC TCCCAGCCACCCCTGTCCAGGGGAGCTGTGTCCTCCCTGCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0047 a0002c0010t0047	a0002c0010t0047g0061 a0002c0010t0047g0061	1	207	0.0048	690	c.163 others(707): Show c.163-2090_163-2089insGCCCCCGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTG TCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCT CCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCT GCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCC CCACCCCTGACCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGA CCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCC GGCCACTCCTGTCCAGGGGAGCTGTGTCTTCCCTGCCCCCCACCCCTGGC CACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCACCCCTGGCCACT CCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCACCCCTGGCCACTCCTG TCCTGGGAGGCCCTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCT GGGAGGCCCTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGA GGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCG TGTCCTCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCTGTGTC CTCCCTGCTCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GREB1_chr2_11529045_11647788	11637073	G G	GGGGCAGG others(683): Show GGGGCAGGGGCAGAGGCAGGGAAATGGGCAGAGGCAGGGGCAGGGGCAGG GGCAGAGGCAGGGGCAGGGACAGGGGCAGGGACAGAGGCAGGGACATGGG CAGAGGCAGGGACAGAGGCAGGGGCAGGGACAGAGGCAGGGGCAGGGGCA GAGGCAGGGACATGGGCAGAGGCAGGGGCAGAGGCAGGGACATGGGCAGA GGCACAGGCAGGGGCATGGACAGGGACTTGGGCAGGGGCAGAGGCAGGGG CAGGGACAGAGGCAGGGGCACAGGCAAGGGCAGGGGCAGGGGCAGAGGCA GAGGCAGGGACAGAGGCAGGGACAGGGACATGGGCAGAGGCAGGGACAGA GGCAGGGGCAGAGGCAGAGGCAGGGACAGAGGCAGGGGCAGAGGCAGGGG CAGGGACATGGGCAGGGACAGAGGCAGAGGCAGGGACATAGGCAGGGACA GAGGCAGGGGCAGGGACATGAGCAGGGACAGAGGCAGGCGCAGGGACATG GGCAGGGACAGAGGTAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGGG CACGGGCAGGGGCATGGGCAGGGGCAGGGACAGAGGCAGGCGCAGGGACA TGGGCACGGGCAGGGACAGAGGCAGGGGCAGGGACATGGGCAGGGGCAGA GGCAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGAGCAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0242 a0002c0005t0011g0242	1	226	0.0044	690	c.534 others(707): Show c.5347-623_5347-622insAAATGGGCAGAGGCAGGGGCAGGGGCAG GGGCAGAGGCAGGGGCAGGGACAGGGGCAGGGACAGAGGCAGGGACATGG GCAGAGGCAGGGACAGAGGCAGGGGCAGGGACAGAGGCAGGGGCAGGGGC AGAGGCAGGGACATGGGCAGAGGCAGGGGCAGAGGCAGGGACATGGGCAG AGGCACAGGCAGGGGCATGGACAGGGACTTGGGCAGGGGCAGAGGCAGGG GCAGGGACAGAGGCAGGGGCACAGGCAAGGGCAGGGGCAGGGGCAGAGGC AGAGGCAGGGACAGAGGCAGGGACAGGGACATGGGCAGAGGCAGGGACAG AGGCAGGGGCAGAGGCAGAGGCAGGGACAGAGGCAGGGGCAGAGGCAGGG GCAGGGACATGGGCAGGGACAGAGGCAGAGGCAGGGACATAGGCAGGGAC AGAGGCAGGGGCAGGGACATGAGCAGGGACAGAGGCAGGCGCAGGGACAT GGGCAGGGACAGAGGTAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGG GCACGGGCAGGGGCATGGGCAGGGGCAGGGACAGAGGCAGGCGCAGGGAC ATGGGCACGGGCAGGGACAGAGGCAGGGGCAGGGACATGGGCAGGGGCAG AGGCAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGAGCACGGGCAGGG GCAGAGGCAGGG	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GTPBP6_chrX_299759_323796	323558	G G	GTGTGTGT others(683): Show GTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCT GCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGG GATGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTC CTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGG TGGTGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAG CCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATG GAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTC CGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGC TCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCT CCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGC GTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTG TGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAG AGACGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0002 a0003c0034t0002	a0003c0034t0002g0088 a0003c0034t0002g0088	1	150	0.0067	690	c.-47 others(701): Show c.-4772_-4771insTGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGAC GGCTACACACACACACACACACACACACACACGTCCCTGAGCTCACCACC TGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGA GCCCAGGAGATTGACGGCTACACACACACACACACACACACACACACACG TCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGG GCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACAC ACACACACACACACACACAAACGTCCCTGAGCTCACCACCTGGGGACGCC CTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGA CTGACGGCTACACACACACACACACACACACACACACAAACGTCCCTGAG CTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGG AACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACACACACACAC ACACATCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGA ACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACA CACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4763		chrX	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(683): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCC ACCCCCGACAAGGAGATGGCACCCCCACCAAGCTCGGGGATGAGCGCAGG GCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAA GCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAG GAGAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18982.hp2 NA19068.hp2 NA18942.hp1 NA18982.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0018 a0002c0002t0111 a0002c0005t0018 a0002c0002t0018 a0002c0002t0111 a0002c0005t0018	a0002c0002t0018g0313 a0002c0002t0111g0323 a0002c0005t0018g0307 a0002c0002t0018g0313 a0002c0002t0111g0323 a0002c0005t0018g0307	3	93	0.0323	690	c.251 others(707): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGCCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCATCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGG TGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTG CGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCC CAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566592	G G	GGGCACCC others(683): Show GGGCACCCCCACCAAGCTCGGGGATGAACGCAGGACTCAGTGAGGACTGG GCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAGCGC AGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCAC CAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCCACCCCCGAC AAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACGCAGTGA GGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGA TGAACGCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCA CCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCCAC CCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGAC TCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGC GCAGGGCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0076 a0076	a0076c0087 a0076c0087	a0076c0087t0014 a0076c0087t0014	a0076c0087t0014g0236 a0076c0087t0014g0236	1	324	0.0031	690	c.251 others(707): Show c.2515-140_2515-139insGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGCGCCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGG TGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTG CGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCC CAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGT CTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCCG AGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTG CGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGG GGTGGCCCAGTCCTCACTGCGTCCTGCGCTCATCCCCGAGCTTGGTGGGG GTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTC ATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTC CTCACTGCGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCT TGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGTTCATCCCCGAGCTT GGTGGGGGTGCC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HLA-DRB1_chr6_32573775_32594848	32587398	A A	AAAATAAA others(683): Show AAAATAAATTGAATATAAATTGACTCTCCTTGTAACCATACAGTAGCTTC TCGTATCTATTTAAATAAAATTCAGTCCGGCCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATTATCTGAGGTCAGGA GTTCGAGACCAGCATGGTCAACATGGTGATACCCTATGTCTACTAAAAAT ACAAAAAAATAAAAATTAGCCAGGTATGGTGGTGGGTGCCTGTAATCTCA GATACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAG GTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGA ACGAAACTCCGTCTCAAAAAAAAAAAAAAAATAGGCCAGGCGTGGTGGCT CACACCTGTAGTCTCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAG GTCAGGAGATGGAGACCACCCTGGCTAACATGACGAAATGCCCTCACTAC TAAAAATACTAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTCCCA GCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAG CTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAAG CGAGACTCCATCTCAAAAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp2 HG01346.hp2 others(20): Show HG00323.hp1 HG01243.hp2 HG01346.hp2 HG01884.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG03486.hp1 NA18612.hp2 NA18980.hp1 NA18984.hp2 NA18992.hp1 NA18995.hp1 NA19002.hp1 NA19005.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA21309.hp1	a0003 a0006 a0016 a0003 a0006 a0016	a0003c0003 a0006c0005 a0016c0018 a0003c0003 a0006c0005 a0016c0018	a0003c0003t0002 a0006c0005t0002 a0016c0018t0008 a0003c0003t0002 a0006c0005t0002 a0016c0018t0008	a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 others(8): Show a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 a0003c0003t0002g0028 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0006c0005t0002g0040 a0016c0018t0008g0027 a0016c0018t0008g0038 a0016c0018t0008g0039	23	204	0.1127	690	c.100 others(707): Show c.100+2244_100+2245insATTTATTTATTTATTTATTTATTTTTTG AGATGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTC AGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAG CCTCCCTAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATT TTTAGTATTTTTAGTAGTGAGGGCATTTCGTCATGTTAGCCAGGGTGGTC TCCATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGA GACTACAGGTGTGAGCCACCACGCCTGGCCTATTTTTTTTTTTTTTTTGA GACGGAGTTTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTC GGCTCACTGCAACCTTCGCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAG CTTCCCAAGTATCTGAGATTACAGGCACCCACCACCATACCTGGCTAATT TTTATTTTTTTGTATTTTTAGTAGACATAGGGTATCACCATGTTGACCAT GCTGGTCTCGAACTCCTGACCTCAGATAATCTGTCTGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGGCCGGACTGAATTTTATT TAAATAGATACGAGAAGCTACTGTATGGTTACAAGGAGAGTCAATTTATA TTCAATTTATTT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	1/5			chr6	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(683): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACCGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACACACA GACCACACACACCACACACCACACACACACCCCACACACCACAAACACCC CACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACACAC ACCACACACCACACACACACCACACTGCACACACTGCACACACCACACAC CCCACATACCACATTCACACACCACACACCACACATACCACATTCACACA CCACACATACCACACACATCACACACACCACACACACCCCAGACACTGCA CACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAAAC CACACACCACACACACACCACACCACACCCCCCACACATAACCATACACA GACCACACATACACACACCACACACCACACATACCACACACACCAGATAC ACACACACCACATACCACACACACACAAACCACACAACACACACACACAT ACACACCACAAGCACACCACACACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0103 a0001c0002t0001g0105	2	5	0.4000	690	c.41 others(701): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTATGTGG TGTGTGTGTATCTGGTGTGTGTGGTATGTGTGGTGTGTGGTGTGTGTATG TGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTGTGTG GTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTGTGTA CAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGATGTGTGTGGTA TGTGTGGTGTGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGT ATGTGGGGTGTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGT GTGTGGTGTGTGTGGCATGTGCGGCGTGTGCGGTGTGTGCAGTGTGTGGA GTGTGTGGGGTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGGTGTG TGTGGTCTGTGTGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGTTG GTGTGTGTGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATGTG TGTGAGGTGTGTGGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTGT GTGGTGTGTGTGTGGTGCATGTGTGGTGTATGTGTGTGGTGTGTGTGGTG TGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(683): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAAGGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAG GGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGAGGAGGAGAGGAAAGAGT CCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAGG AGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02257.hp2 HG02280.hp1 others(3): Show HG02004.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0056 a0001c0001t0057 a0001c0001t0014 a0001c0001t0056 a0001c0001t0057	a0001c0001t0014g0033 a0001c0001t0014g0038 a0001c0001t0056g0129 others(1): Show a0001c0001t0014g0033 a0001c0001t0014g0038 a0001c0001t0056g0129 a0001c0001t0057g0099	6	10	0.6000	690	c.-46 others(701): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCTCCTTCCTCCTTTCTGCCTCC TCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTTCTCTCCTCCTCCCC TCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCT CCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCT TTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCC CTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTC CTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTC TTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCT CCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCT CCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTT CTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCT CCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(683): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCA CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01952.hp1 HG01993.hp2 others(1): Show HG01361.hp1 HG01952.hp1 HG01993.hp2 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0104 a0002c0002t0001g0003 a0002c0002t0001g0104	4	80	0.0500	690	c.-27 others(701): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409060	C C	CCCTCCTC others(683): Show CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCCTCCTCTCCTCCACTCCTCTCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCTCTCCCTCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTGTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCC CTCTCCCTCACTCTCCTCTCCCTCACTCTCCCTCTCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	367	0.0027	690	c.-27 others(701): Show c.-2784_-2783insAGAGGGAGAGGGAGAGTGAGGGAGAGGAGAGTGA GGGAGAGGGAGAGTGAGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAG GGACAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGAGGGAGAGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGAGAGGAGTGGAGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2726		chr12	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(683): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCA GGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGA AGGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAGG AAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGAAAGGGCAGAA GGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0062 a0004c0002t0001g0062	1	8	0.1250	690	c.507 others(709): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAG GAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAG AAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGA GGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGG AGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAA GAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGGA AGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGG GAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAA GGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(683): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACACACAAACCTCCAAACACACACACACACCTCCAAACACACACACA CCTAACACACACCTCCTCCAAACACACACACACTTCCAAACACACACACA CCTCCAAACACACACACATCTCCAAACACACACACACCTAACACACGCAC CTAACACACACTTCCTTCAAACACACACACACCTCCAAAGACACACACAC ACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCTCCTTC AAACACACACACACACCTCCAAACACACACACACCTAACACACACCTCCT TCAAACACACACACACCTCCAAACACACACACACACCTAACACACACCTC CTTCAAACACACACACACCTCTCCAAACACACACACACACCTAACACACC CCCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACAC ACCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACAC CCCTCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACACA CACCTCCAAAAACACACACATACCTAACACACACCTCCTTCAAACACACA CACCTCCAAACACACACACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03579.hp2 HG02630.hp1 HG03579.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0003 a0004c0003t0003 a0002c0002t0003 a0004c0003t0003	a0002c0002t0003g0015 a0004c0003t0003g0016 a0002c0002t0003g0015 a0004c0003t0003g0016	2	5	0.4000	690	c.212 others(709): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACACACAAACCTCCAAACACACACACACACCTCC AAACACACACACACCTAACACACACCTCCTCCAAACACACACACACTTCC AAACACACACACACCTCCAAACACACACACATCTCCAAACACACACACAC CTAACACACGCACCTAACACACACTTCCTTCAAACACACACACACCTCCA AAGACACACACACACCTAACACACACCTCCTTCAAACACACACACCTAAC ACACACCTCCTTCAAACACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACACCTCCAAACACACACACACACC TAACACACACCTCCTTCAAACACACACACACCTCTCCAAACACACACACA CACCTAACACACCCCCCTTCAAACACACACACCTCTCCAAAAACACACAC ACACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACAAAC ACACCTAACACACCCCTCCTTCAAACACACACACCTCAAAACACACACAC CTCAAAACACACACACCTCCAAAAACACACACATACCTAACACACACCTC CTTCAAACACACACACCTCCAAACACACACACACCTAACACACACCTCTT TCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAD1L1_chr7_1810795_2237945	2210527	C C	CGCATTCC others(683): Show CGCATTCCCGTGGACTCTCTAGGAGCCATATTCAGGACCGCCAGCCCGCA TTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCC CGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGTG GACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACT CTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCT AGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGA GCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCG TATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATT CGGGACCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGG ACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCG CCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAG CCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCTG CATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATT CCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	244	0.0041	690	c.986 others(707): Show c.986+2684_986+2685insAGGCTGGCGGTCCCGAATACGGCTCCTA GAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGA GTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCC ACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGG GAATGCAGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAAT GCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCAG GCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTG GCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGG TCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCC GAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAAT ACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGG CTCCTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCTCC TAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGA GAGTCCACGGGAATGCGGGCTGGCGGTCCTGAATATGGCTCCTAGAGAGT CCACGGGAATGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MMD2_chr7_4900998_4964187	4960099	G G	AGGGAGTG others(683): Show AGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGA AGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGA GTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGA GTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAA GTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAG TGGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGG AGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGG GGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGGGGGTTAGT GGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGA GGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAG GGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGG GAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGG GGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGG GAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG02897.hp1 HG01258.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0131 a0001c0002t0001g0152 a0001c0001t0003g0131 a0001c0002t0001g0152	2	377	0.0053	690	c.-10 others(701): Show c.-1082_-1081insCCACCCCCAGGTCCCCCACTCCCTCCAACACCCC CACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCT CACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCC CCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCC CACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCC ACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCT CTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCC CCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCC CAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACA CCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACAC CCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCC CCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTC CCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCC CTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCA CTCCCT	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		912		chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(683): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGG AGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGT GGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGA GGGAGGGGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0211 a0002c0002t0002g0211	1	8	0.1250	690	c.250 others(705): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCT TTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCC CACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTT TTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCC TCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC CTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(683): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATA TATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAG TATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0049	1	156	0.0064	690	c.358 others(707): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTAAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATGTATAAATATATATATTTCAATATAAGTATGTATAAAAATATATAT ATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTT CAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAA AAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(683): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATA AGTATGTATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0051 a0001c0002t0003g0051	1	156	0.0064	690	c.358 others(707): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTAAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(683): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	156	0.0064	690	c.358 others(707): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATATAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTT AAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAA AAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(683): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATATA TTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0122 a0002c0004t0005g0122	1	156	0.0064	690	c.358 others(707): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATAT AAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAA ATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTT AAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAA AAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(683): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0061 a0001c0001t0022g0061	1	156	0.0064	690	c.358 others(707): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(683): Show AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	156	0.0064	690	c.358 others(707): Show c.358+3191_358+3192insATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(683): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATA AATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAATATAT AATTTATATAATTTATAAATTATATAATTTATATATTATATATAATATGT TTATATTAAATATTATATATTATATATTATATATTATATATTTATATTAA ATATTATATATTTATATATTATATATAATATATTTATATTAAATATTATA TATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTA TTTATATTTATATTAAATATTATATATTTATATATTATATATATTTATAT TAAATATTATATATTTATATATTATATATATTTATATTAAATATTATATA TTTATATATTATATATATTTATATTAAATATTATATATTTATATATTATA TATAATATATTTATATTGAATATTATATATTTATATATTATATATAATAT ATTTATATTGAATATTATATATTTATATATTATATATAATATATTTATAT TGAATATTATATATTTATATATTATATAAATATTATATATG	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19043.hp1 NA19081.hp1 HG03704.hp2 NA19043.hp1 NA19081.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0049 a0003c0007t0001g0064 a0003c0007t0001g0130 a0003c0007t0001g0049 a0003c0007t0001g0064 a0003c0007t0001g0130	3	66	0.0455	690	c.166 others(709): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATATATTTATATATAAATATTTATATTTTATATATTTATATATTT TATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATAATTT ATATATTATATATAATATGTTTATATTAAATATTATATATTATATATTAT ATATTATATATTTATATTAAATATTATATATTTATATATTATATATAATA TATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAA TATTATATATTTATATATTATTTATATTTATATTAAATATTATATATTTA TATATTATATATATTTATATTAAATATTATATATTTATATATTATATATA TTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAATA TTATATATTTATATATTATATATAATATATTTATATTGAATATTATATAT TTATATATTATATATAATATATTTATATTGAATATTATATATTTATATAT TATATATAATATATTTATATTGAATATTATATATTTATATATTATATAAA TATTATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCTCCT others(683): Show GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCCCCCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTA CCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCG CCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGG TCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCA CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCCGCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCT TACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	122	0.0082	690	c.148 others(709): Show c.1480-2580_1480-2579insTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGGCGGAGGGACC CAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGGGGGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
ODF3_chr11_191761_205258	196404	G G	GGGACATG others(683): Show GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	347	0.0029	690	c.-65 others(699): Show c.-651_-650insGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGA GGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		356		chr11	TogoVar
PCDH15_chr10_53797771_54806231	54332312	A A	AATATAAT others(683): Show AATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTATATATTATTATA TATAATATAATATAATCTATATTATATATTATTATATATAATATAATATA ATCTATATTATATATTATTATATATAATATAATATAATCTATATTATATA TTATTATATATAATATAATATAATCTATATTATATATTATTATATATAAT ATAATATAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATATTATTATATATAATATAATATAATCTATATTATATATTATTA TATATAATATAATATAATCTATATTATATATTATTATATATAATATAATA TAATCTATATTATATATTATTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATATAATCTATATTATATATTATTATATATA ATATAATATAATCTATATTATATATTATTATATATAATATAATATAATCT ATATTATATTATATATAATATAATATAATCTATATTATATATTATTATAT ATAATATAATCTATATTATATATTATTATATATAATATAATCTATATTAT ATATTATTATATATAATATAATCTATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0026 a0026	a0026c0015 a0026c0015	a0026c0015t0001 a0026c0015t0001	a0026c0015t0001g0025 a0026c0015t0001g0025	1	81	0.0123	690	c.595 others(707): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATATAATATAGATTATATTATATTATATATAATAATATATAATATA GATTATATTATATTATATATAATAATATATAATATAGATTATATTATATT ATATATAATAATATATAATATAGATTATATTATATTATATATAATAATAT ATAATATAGATTATATTATATTATATATAATAATATATAATATAGATTAT ATTATATTATATATAATAATATATAATATAGATTATATTATATTATATAT AATAATATATAATATAGATTATATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATAATATATAATATAGATTATATTATA TTATATATAATAATATATAATATAGATTATATTATATTATATATAATAAT ATATAATATAGATTATATTATATTATATATAATAATATATAATATAGATT ATATTATATTATATATAATAATATATAATATAGATTATATTATATTATAT ATAATAATATATAATATAGATTATATTATATTATATATAATAATATATAA TATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332312	A A	AATATAAT others(683): Show AATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTATATATTATTATA TATAATATAATATAATCTATATTATATATTATTATATATAATATAATATA ATCTATATTATATATTATTATATATAATATAATATAATCTATATTATATA TTATTATATATAATATAATATAATCTATATTATATATTATTATATATAAT ATAATATAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATATTATTATATATAATATAATATAATCTATATTATATATTATTA TATATAATATAATATAATCTATATTATATATTATTATATATAATATAATA TAATCTATATTATATATTATTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATATAATCTATATTATATATTATTATATATA ATATAATATAATCTATATTATATATTATTATATATAATATAATATAATCT ATATTATATTATATATAATATAATATAATCTATATTATATATTATTATAT ATAATATAATCTATATTATATATTATTATATATAATATAATCTATATTAT ATATTATTATATATAATATAATCTATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0001 a0018c0017t0001	a0018c0017t0001g0024 a0018c0017t0001g0024	1	76	0.0132	690	c.595 others(707): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATATAATATAGATTATATTATATTATATATAATAATATATAATATA GATTATATTATATTATATATAATAATATATAATATAGATTATATTATATT ATATATAATAATATATAATATAGATTATATTATATTATATATAATAATAT ATAATATAGATTATATTATATTATATATAATAATATATAATATAGATTAT ATTATATTATATATAATAATATATAATATAGATTATATTATATTATATAT AATAATATATAATATAGATTATATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATAATATATAATATAGATTATATTATA TTATATATAATAATATATAATATAGATTATATTATATTATATATAATAAT ATATAATATAGATTATATTATATTATATATAATAATATATAATATAGATT ATATTATATTATATATAATAATATATAATATAGATTATATTATATTATAT ATAATAATATATAATATAGATTATATTATATTATATATAATAATATATAA TATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(683): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCTGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0009 a0001c0018t0002g0009	1	50	0.0200	690	c.129 others(707): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCAGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PERM1_chr1_970198_987093	976708	A A	ACCCCCAC others(683): Show ACCCCCACCAACCCCAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCAC TCCCCTCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	399	0.0025	690	c.215 others(705): Show c.2150-85_2150-84insGAGTGGGAGGCGGTTCCCGGGGTTGCGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGCGGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGC AGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGG TGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGAGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTCGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGTGGGGGGAGTGGGAGGCGGTTCCTGGGG TTGGTGGGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(683): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCACCACCATCACCACCACCATCACCATCACCATCACCACCACCAC CATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCATCATCA CCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGCACCACC ATCACCACCACCATCACCACCATCTCACCATCATCACCATCACCATCACC ATCACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCATC TCACCATCACCATCACCACCATCATCACCACCACCATCACCACCACCATC ACCATCACCATCACCACCATCATCATCACCACCACCACCACCACCACCAC CACCATCATCACCATCACCACCAGCACCACCACCATCACCACCACCATCA CCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCACCAAC ATCATCATCATCACCACCACCACCACCATCACCACCACCACCACCATCAA CACCACCATCATCATCACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0230 a0002c0005t0002g0230	1	140	0.0071	690	c.48 others(701): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGA TGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTGAT GATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGATGATGGTGGTGATGG TGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTG ATGGTGAGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGG TGGTGATGGTGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGG TGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTG ATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGT GGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGG TGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGG TGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGG TGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATG GTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLCL2_chr3_16879955_17095604	16980106	A A	ACCTCCCT others(683): Show ACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCACC ACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTC CCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCATCCCAGACGGGGCGGC TGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGAGCGGCT GGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAGGGGTGGCCGGCCAGAGG CGCCCCTCACTTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGAGGCTGA CCCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCACACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	220	0.0045	690	c.328 others(709): Show c.328-29558_328-29557insAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGT GGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCATCC CAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAGGGGT GGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCGGGCG GGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCTCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980106	A A	ACCTCCCT others(683): Show ACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCACC ACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTC CCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCATCCCAGACGGGGCGG CTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGAGCGGC TGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAGGGGTGGCCGGCCAGAG GCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGAGGCTG ACCCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCACACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	220	0.0045	690	c.328 others(709): Show c.328-29558_328-29557insAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGT GGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCATC CCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAGGGG TGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCGGGC GGGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCTCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRDM16_chr1_3064203_3443621	3181307	C C	CGGCCTTA others(683): Show CGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACA CGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTA CACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTACA CACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCT TACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTA CACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCT TACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTA CACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCT TACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCT TACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTA CGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTA CACACAGTCTTACACATGCAGTCTTACACACGCAGTCTTACACACGCAGT CTTACACGCGGCCTTACACACGCAGTCTTACACGCGGTCTTACACACGCA GTCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	170	0.0059	690	c.38- others(705): Show c.38-4816_38-4815insCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGGTC TTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTT ACACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGCAG TCTTACACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGG TCTTACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACACGCAG TCTTACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTACACAC GGTCTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGG TCTTACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACACACGG TCTTACACACGGTCTTACGCAGTCTTACACACGGTCTTACACACGGAGTC TTACACACGGAGTCTTACACACAGTCTTACACATGCAGTCTTACACACGC AGTCTTACACACGCAGTCTTACACGCGGCCTTACACACGCAGTCTTACAC GCGGTCTTACACACGCAGTCTTACACGCGGTCTTACGGTCTTACACACGC AGTCTTATGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(683): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	81	0.0123	690	c.132 others(707): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFX2_chr19_5988164_6115500	6070038	G G	GGAATGGG others(683): Show GGAATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATGGG ATATGATGGGGTGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATG GGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAGAA TCGGATGTGAATGGGGTGGAATGGGATGTGAATGGGGTGGGATGGGATGT GGATGGGGTGGGATGGGATGGGATGTGGATGGGATGGAATGGGATGTGGA TGGGATGTGATGGGATGTGGATGGGGTGGAACGGGATGTGGATGGGGTGG GATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGAT GTGGATGGGGTGGGATGAGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGAATGGGATGTGGATGGGATGTGA TGGGATGTGGATGGGGTGGAATGGGATGTGGATGGGGTGGGATGAGATGT GGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATGTGGATGGGG TGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGAGTGGGATGG GATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00741.hp2 others(24): Show HG00140.hp1 HG00323.hp2 HG00741.hp2 HG01069.hp1 HG01934.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG04199.hp2 NA18747.hp2 NA18994.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp2 NA19065.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0003t0001 a0001c0003t0011 a0001c0003t0014 a0001c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0233 a0001c0001t0001g0235 others(24): Show a0001c0001t0001g0009 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0295 a0001c0001t0003g0232 a0001c0001t0007g0266 a0001c0001t0017g0238 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0264 a0001c0003t0011g0262 a0001c0003t0014g0260 a0001c0007t0001g0272	27	288	0.0938	690	c.-8- others(707): Show c.-8-22535_-8-22534insTATCCACATCCCATCCCATCCCATCCAC ATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCATCCCATCC ACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACATCCCT TTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATTCCACCC CATCCACATCCCATCACATCCCATCCACATCCCATTCCATCCCATCCCAT CCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCAC ATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCTCATC CCACCCCATCCACATCCCATCCTACCCCATCCACATCCCTTTCCATCCCA TCCACATCTCATCCCACCCCATCCACATCCCGTTCCACCCCATCCACATC CCATCACATCCCATCCACATCCCATTCCATCCCATCCACATCCCATCCCA TCCCACCCCATCCACATCCCATCCCACCCCATTCACATCCCATTCCACCC CATTCACATCCGATTCTATCCCATCCACATCCCATTCCATCCCATCCACA TCCCATTCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCC CACCCCATCATATCCCATTCCACCCCATTCACATCCGATTCTATCCCATC CACATCCCATTC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RNF223_chr1_1065967_1079306	1078380	G G	GGGGGAGG others(683): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGG GGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG CCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGG GGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCT GAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGG GGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCT GAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGG GGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0008	1	223	0.0045	690	c.-43 others(701): Show c.-4375_-4374insGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAAC GGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGC CTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCA TAGACTCAGCCTCTCGGCACGGAGTCCCCATAGCCACAGCCACCCGGCAC GGAGTCCCCATAGCCACAGCCACCCCGCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCA TAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCAC GGAGTCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGC CTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCA TAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCAC GGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCA TAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCAC GGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGC CTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4075		chr1	TogoVar
RPH3AL_chr17_207389_357807	242609	C C	CCTTCCTC others(683): Show CCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGAT TACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTG ACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATT GACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTAT TGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCT ATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTC TATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCCTTC CTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTT CCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACC CTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGATT ACCTTCCTCTATTGAATACCTTCCTCTATTGATTACCCTTCCTCTATTGA CTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATT GATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	126	0.0079	690	c.613 others(707): Show c.613+4501_613+4502insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAA TAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTATTC AATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAA TCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGG TAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAG GTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGGTAATCAATAGAGG AAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAG GAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAG AGGAAGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCA ATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAAT CAATAGAGGAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SCGB1C1_chr11_188078_199575	196404	G G	GGGACATG others(683): Show GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	316	0.0032	690	c.19 others(701): Show c.1954_*1955insGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1830		chr11	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(683): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTCGGGGGGGTCAGCCCCCCCGCCCAGCCAGCTGCCCTGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCA GCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0102 a0003c0004t0002g0102	1	203	0.0049	690	c.284 others(709): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACAGGGCAGCTGGCTGGGCGGGGGGGCTG ACCCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(683): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCAC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	40	0.0250	690	c.77- others(707): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC ACCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCT CCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC CTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(683): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAAGGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAG GGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGAGGAGGAGAGGAAAGAGT CCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAGG AGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02257.hp1 HG02280.hp2 others(3): Show HG02004.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0008 a0001c0001t0001g0054 a0001c0001t0001g0055	6	7	0.8571	690	c.624 others(705): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCTCCTTCCTCCTTTCTGC CTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTC TCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTTCTCTCCTCCT CCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTT CTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCC TCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTT CTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTC CCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCT CCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTC CCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTC CTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTC ACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCC ACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGGAG others(683): Show GGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAG AGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAG CGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGG AGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTG GGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGG TGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAG GGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGAC AGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGG AGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGGG GGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGC AGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAG GGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAG GGAGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGC AGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0035 a0001c0010t0035	a0001c0010t0035g0103 a0001c0010t0035g0103	1	107	0.0093	690	c.227 others(709): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCTGCG TCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCCTC TCCCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTG CCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCC CCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCC TCCCTCCCTGCCTCCCCCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCACCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCC TGCCTCCCTCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTG CCTCCCTCTCCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(683): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGGGAGGGGAGGGCAG AGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAG GGGAGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGG GAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGG GGAGGGGGAGGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGG AGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGG GGGAGGGGAGGCGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGG GAGGGGAGGAGGGAGGGGGAGGGGGAAGGGGGAAGGGGGAGGAGGGAGGG GAGAGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAG GGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG03453.hp2 others(1): Show HG02145.hp2 HG02559.hp2 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	138	0.0290	690	c.12 others(701): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCCTC CCCCTCCCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCT CCCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCC CTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCTCCTCACCCCTCCTCTCCCCTC TCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTC TGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCT CCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SNTG2_chr2_945849_1372613	1222769	T T	TGGTGCAG others(683): Show TGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCTGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGA GGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAG GAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCTGTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGTG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0023 a0002c0003t0001g0023	1	158	0.0063	690	c.719 others(709): Show c.719+13556_719+13557insTGTCTCCCTGTCCTGCCTGCTGCTGG AGGTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTC CCTGTCCTGCTGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGT GATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCT GTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCTGTGG AGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGT GCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGA TCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGC CTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGG AGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGA GGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGG AGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGT GCAGTGATGGAGGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(683): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	283	0.0035	690	c.909 others(705): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
TGM2_chr20_38122385_38170270	38124011	T T	TATAATAT others(683): Show TATAATATACCTATTATATATAAAATATACCTATTATATATAATATACCT ATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATAT ACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATATA ATATACCTATTATATGCATTATATAATATATTATATATAATATGCATATT ATATGTATTATATATTATATATTATATATAATATACATATTATATGTATT ATATATTATATATTATATATATAATATACATATTATATGTATTATATATT ATATATAATATACATATTATATATTATATATTATATACATATTATATATT ATATACATATTATATATTATATACATATTATATATTATATATTATATATT ATATACATATTATACATTATATATATCTAAAATATATAATACACATTATA TATTATATAATACACATTATATATTATATATAATACACATTATATATTAT ATATAATACACATTATATATTATATATAATACACATTATATATTATATAT AATACACATTATATATTATATATAATACACATTATATATTATATATAATA CACATTATATATTATATAATACACATTATATATTATATATAATACACATT ATATATTATATATAATACACATTATATATAATATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG03195.hp2 HG03540.hp1 others(1): Show HG01167.hp1 HG03195.hp2 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0007 a0001c0009t0007 a0001c0006t0007 a0001c0009t0007	a0001c0006t0007g0033 a0001c0006t0007g0279 a0001c0009t0007g0146 a0001c0006t0007g0033 a0001c0006t0007g0279 a0001c0009t0007g0146	4	320	0.0125	690	c.62 others(701): Show c.6207_*6208insGTATTATATATTATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTA TATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAATA TGTATATAATATATAATATATAATATATAATATGTATATAATATATAATA TGTATATAATATATAATATGTATATAATATATAATATATAATATGTATAT TATATATAATATATAATACATATAATATGTATATTATATATATAATATAT AATATATAATACATATAATATGTATATTATATATAATATATAATATATAA TACATATAATATGCATATTATATATAATATATTATATAATGCATATAATA GGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCATAT AATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGC ATATAATAGGTATATTATATATAATAGGTATATTTTATATATAATAGGTA TATTAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3373		chr20	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(683): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAAAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0155 a0001c0001t0063g0155	1	264	0.0038	690	c.189 others(707): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAAAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

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