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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(761): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACA CATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACA TCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATA CCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCC CTCCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0228 a0001c0001t0158g0228	1	260	0.0039	768	c.54 others(779): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGAACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTC CCCCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC CCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTC CAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCA GGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG GCACATCCCCCCTCCCTCCAGGGGACACATCCCC		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding					323		chr13	TogoVar
TNS1_chr2_217794791_218007995	217809480	G G	GATGGATG others(761): Show GATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGCATGGA TGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGCATGGATGGATGGATAGGTGCATGGA TGGATGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATG CATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGCATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATG GATGGATGCATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGA TGGATGCATGGATGGATGGATGGATAGGTGCATGGATGGATGCATGGATG GATGGATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGA TGGATGGATGCATGCATGGATGGATGGATAGGTGCATGGATGGATGCATG GATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGA TAGGTGCATGGATGGATGC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0004 a0004c0011t0004	a0004c0011t0004g0142 a0004c0011t0004g0142	1	244	0.0041	768	c.527 others(785): Show c.5273+342_5273+343insGCATCCATCCATGCACCTATCCATCCAT CCATCCATGCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCACCTATCCATCCATCCATGCATGCATCCATCCATCCATCCAT CCATGCATCCATCCATGCACCTATCCATCCATCCATCCATCCATCCATGC ATCCATCCATGCACCTATCCATCCATCCATCCATGCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATCCATCCATGCATCCATCCATCCATCC ATCCATCCATCCATGCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATCCATCCATCCATCCATCCATGCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCAT CCATCCATCCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCACCTATCCATCCATCCATCCATCCATCCATCCATCCATGCAC CTATCCATCCATCCATGCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATCCATCCATCCATCCATCCATCCATCCATCCATGCAT CCATCCATGCATCCATCCATGCACCTATCCATCCATCCAT		TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32						chr2	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(761): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0015 a0003c0006t0015	a0003c0006t0015g0020 a0003c0006t0015g0020	1	174	0.0058	768	c.41- others(785): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATAT		TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870633	C C	CCACACAC others(761): Show CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCTACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCTACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACCCTACACAC ACCACACCCCACACACACCACACCCCATACACACCACACCCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	338	0.0030	768	c.35 others(787): Show c.35+21901_*35+21902insACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCTACACACACCA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCTACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCTACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCCACACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3B_chrX_8459830_8471510	8467026	T T	TGGTGTGT others(761): Show TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGA GGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0036 a0014c0020t0036	a0014c0020t0036g0001 a0014c0020t0036g0001	1	271	0.0037	768	c.64 others(777): Show c.643_*644insGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG GGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGA		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					517		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(761): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACATATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	408	0.0025	768	c.53+ others(783): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACATATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATA		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23						chr20	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(761): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTATAATATAGTTATAATATATAAATATATATTAT AACTATATTAAATATATAAATTATATAATATATATTATATATTGTATATT ATATAATTTATATAATATATTATATGTTATATAATATATATTATATATTG TATATATTATATTATATATTATATATTTTATATATCATATATAGTATGCT ATATAATATATATTTTTATATATTATATAGTATACTATATATTTTTATAT ATTATATAGTATACTATATAATATATATTTTTATATATTATATATAATAT ATATAATTATATATCATATATATTTATATAATATATGATATATAATATAT AATATATATTATGTATTATATAATTATATAAAATATATCATATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATAATATATTATAAATAATATATTA TATATTATATAATATATTATAAATAATATATTATATATTATATTATATAT TATAAATAATATATTATATATTATATTATATATTATAAATAATATATTAT ATATTATAAATAATATATTATATATAATATGTTATATATTATAAATAATA TATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp2 NA20300.hp1 HG02809.hp2 HG03130.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 a0001c0001t0002 a0001c0001t0003 a0001c0001t0025	a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0025g0282 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0025g0282	3	302	0.0099	768	c.-1- others(785): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTATAATATAGTTATAATA TATAAATATATATTATAACTATATTAAATATATAAATTATATAATATATA TTATATATTGTATATTATATAATTTATATAATATATTATATGTTATATAA TATATATTATATATTGTATATATTATATTATATATTATATATTTTATATA TCATATATAGTATGCTATATAATATATATTTTTATATATTATATAGTATA CTATATATTTTTATATATTATATAGTATACTATATAATATATATTTTTAT ATATTATATATAATATATATAATTATATATCATATATATTTATATAATAT ATGATATATAATATATAATATATATTATGTATTATATAATTATATAAAAT ATATCATATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATAATATAT TATAAATAATATATTATATATTATATAATATATTATAAATAATATATTAT ATATTATATTATATATTATAAATAATATATTATATATTATATTATATATT ATAAATAATATATTATATATTATAAATAATATATTATATATAATATGTTA TATATTATAAATAATATATTATATATAATATGTTATATAT		ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
ZDHHC11B_chr5_705355_789729	736305	C C	CTGCCAAA others(761): Show CTGCCAAATTTATTTTTTTTTATTCTTTATTTTTTTTTTTTTATTGATCA TTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATAGGACAATA GTGGAGGGAAGGTCAACAGAAAAACAAGTGAACAAAGGTCTCTGGCTTTC CTAGGCAGAGGACCCAGCGGCCTTCCCCAGTGTTTGTGTCCCTGGGTACT TGAGATTAGGGAGTGGTGATGACTCTTAATGAGCATGCTGCCTTCAAGCA TCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGA GTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCATA GATCAACAGGATCCCAAGGCAGAATTTTTCTTAGTACAGAACAAAATGAA AAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACCATCCGATT TCTCAATCTTTTCCCCACCTTTCCCCCTTTTCTATTCCACAAAACCGCCA TTGTCATCATGGCCCGTTCTCAGTGAGCTGTTGGGTACACCTTCCAGACG GGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGG GCAGAGGCACCCCCCACCTCCCAGATGCGGCAGCTGGCCGGGTGGAGGTG CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGAGGTGCCCCC CACCTCCCTCCTGGACGGGGCGGCCGGCCGGGTGGGGGCTGACCCCCCAC CTCCCTCCCGGACGGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp1 HG02896.hp1 others(3): Show HG02280.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03471.hp2 NA20129.hp1	a0001 a0001	a0001c0024 a0001c0025 a0001c0047 others(1): Show a0001c0024 a0001c0025 a0001c0047 a0001c0048	a0001c0024t0019 a0001c0025t0016 a0001c0047t0016 others(1): Show a0001c0024t0019 a0001c0025t0016 a0001c0047t0016 a0001c0048t0016	a0001c0024t0019g0131 a0001c0024t0019g0132 a0001c0025t0016g0195 others(3): Show a0001c0024t0019g0131 a0001c0024t0019g0132 a0001c0025t0016g0195 a0001c0025t0016g0197 a0001c0047t0016g0205 a0001c0048t0016g0198	6	271	0.0221	768	c.936 others(785): Show c.936-2467_936-2466insTCCCCCGTCCGGGAGGGAGGTGGGGGGT CAGCCCCCACCCGGCCGGCCGCCCCGTCCAGGAGGGAGGTGGGGGGCACC TCCACCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGCACCTCCAC CCGGCCAGCTGCCGCATCTGGGAGGTGGGGGGTGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGAA GGTGTACCCAACAGCTCACTGAGAACGGGCCATGATGACAATGGCGGTTT TGTGGAATAGAAAAGGGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATG GTTGCTGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTG TTCTGTACTAAGAAAAATTCTGCCTTGGGATCCTGTTGATCTATGACCTT ACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTA AATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAG GCAGCATGCTCATTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAG GGACACAAACACTGGGGAAGGCCGCTGGGTCCTCTGCCTAGGAAAGCCAG AGACCTTTGTTCACTTGTTTTTCTGTTGACCTTCCCTCCACTATTGTCCT ATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATA AAAAAAAAAAAATAAAGAATAAAAAAAAATAAATTTGGCA		ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	10/13						chr5	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(761): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCC TCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTC CCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCC CCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCC TCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCC CCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	322	0.0031	768	c.4-1 others(781): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTC TCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCT CTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTC CCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCAT CTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCA CCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC		ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(761): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCC CTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCTCCTCCTCCCTCC CCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCTTC TCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTC CTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTC CTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCC CTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCC TCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCC CCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCT CCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCC CCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCC CCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCC TCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCC CCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0179 a0001c0001t0005g0179	1	322	0.0031	768	c.4-1 others(781): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCC TTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCTC CTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCTCCCCTC CCCCTTCCTTCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCC CCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTC CCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCC TTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCC CTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCC CCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCT CCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTC TCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCC CTTCTCCTCCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCAT CTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCA CCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC		ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(761): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCA TCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCT TCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTC CCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTC TCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTTCCCTCCTCCC TCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCCT CCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCA TCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCC CCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCC TCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCC CCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01943.hp2 HG01070.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0188 a0001c0002t0004g0189	2	322	0.0062	768	c.4-1 others(781): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCC CCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCC CCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCC CTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTT CCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCC CCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCT TCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTC CCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTC CCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCAT CTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCA CCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC		ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(761): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCAT CCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCTT CCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTCC CCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCC TCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTTCCCCTTCCTCCTC TCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTTCCCTCCTCCC TCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCCT CCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCA TCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCC CCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCC TCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCC CCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0192 a0001c0002t0003g0192	1	322	0.0031	768	c.4-1 others(781): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCTCCCCTCCTTCCCCCCTCCCCTCC CCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCC CCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCC CTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCC TCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTC CTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTTCC CCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCT TCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTC CCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTC CCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCAT CTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCA CCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC		ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(762): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTC AGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCA CCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCT CAGTCCACTCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCC ACTCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACC TCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTC CACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18982.hp2 NA19010.hp1 NA18952.hp2 NA18982.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0162 a0001c0001t0013g0048 a0001c0001t0013g0049 a0001c0001t0006g0162 a0001c0001t0013g0048 a0001c0001t0013g0049	3	337	0.0089	769	c.61+ others(784): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGG GTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGGCTGAGGT GATGGGGGGGGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTG GGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGA CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGG TGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGG GGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGG ACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGAC TGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(762): Show GTACTATATATATTTTATATATAGTATGTACTATATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACATTGTATATACTATA TATATATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTT ATGTATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTA TGTACTATATATATTTTATACATAGTATATACACTGTATATACTATATAT ATTTTATACATAGTATATACAGTGTATATACTATATATTTTATATATAGT ATATACACTGTATATACTATATATATTTTATATATAGTATATACACTGTA TATACTATATATATTTTATATATAGTATATACACTGTATATACTATATAT ATTTTATATATAGTATATACACTGTATATACTATATATATTTTATATATA GTATATACACTGTATATACTATATATATTTTATATATAGTATATACACTG TATATACTATATATATTTTATATATAGTATATACACTGTATATACTATAT ATATTTTATATATAGTATATACACTGTATATACTATATATATTTTATATA TAGTATATACACTGTATATACTATATATATTTTATATATAGTATATACAC TGTATATACTATATATATTTTATATATAGTATATACACTGTATATACTAT ATATATTTTATATATAGTATATACACTGTATATACTATATATATTTTATA TATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA20300.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0019 a0001c0001t0005g0010 a0001c0001t0002g0019 a0001c0001t0005g0010	2	182	0.0110	769	c.505 others(788): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTGTATATACTATATATAAAATATATATAGTA TATACAGTGTATATACTATATATAAAATATATATAGTATATACAGTGTAT ATACTATATATAAAATATATATAGTATATACAGTGTATATACTATATATA AAATATATATAGTATATACAGTGTATATACTATATATAAAATATATATAG TATATACAGTGTATATACTATATATAAAATATATATAGTATATACAGTGT ATATACTATATATAAAATATATATAGTATATACAGTGTATATACTATATA TAAAATATATATAGTATATACAGTGTATATACTATATATAAAATATATAT AGTATATACAGTGTATATACTATATATAAAATATATATAGTATATACAGT GTATATACTATATATAAAATATATATAGTATATACAGTGTATATACTATA TATAAAATATATAGTATATACACTGTATATACTATGTATAAAATATATAT AGTATATACAGTGTATATACTATGTATAAAATATATATAGTACATACTAT ACATAAAATATATATATAGTATATACAATGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATATAGT ATATACAATGTACATACTATATATAAAATATATATAGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(762): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0155 a0001c0002t0009g0155	1	292	0.0034	769	c.207 others(790): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCCGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGAC GGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP9B_chr18_79064394_79383283	79146424	T T	TGGCGGTG others(762): Show TGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTG GCGGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGC GGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGACGG TGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGAAGCTGGCGGTG TGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTG CAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGGA GAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGA GTGACTGAAGGTGCAAGCTGCATGTCAGGGGAGCTGCCGGTGTGGAGAGT GACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGA CTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACT GAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGA AGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAG GTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTTGACTGAAGG TGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCACAGTGACTGAAGGTG CAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCA GGCTGCATGTCGGGGGAGCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0258 a0002c0002t0004g0258	1	298	0.0034	769	c.726 others(786): Show c.726+2582_726+2583insTGAAGGTGCAGGCTGCATGTCGGGGGAG CTGGCGGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCT GGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGA CGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGAAGCTGGCG GTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGT GTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGT GGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGC AGAGTGACTGAAGGTGCAAGCTGCATGTCAGGGGAGCTGCCGGTGTGGAG AGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAG TGACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTG ACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGAC TGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTG AAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTTGACTGA AGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCACAGTGACTGAAG GTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGT GCAGGCTGCATGTCGGGGGAGCCGGCGGTGTGGAGAGTGAC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(762): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAG GGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGG AGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCG GGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGG AGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGG GCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGA GGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGG AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGG ACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACG GAGGGAGGGAGGGCGGGACGGAGGGTGGGAGGGAGGGAGGGATGGAGGGA GGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	410	0.0024	769	c.465 others(784): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCATC CCTCCCTCCCTCCCACCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCC CTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCATCCCTCC CGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTC CGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC TCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCC CTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCC CTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCG CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCC CTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCT CCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCC CTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC		C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10						chr20	TogoVar
CCS_chr11_66588185_66611019	66598463	G G	GAGATTGT others(762): Show GAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCT CAAAAAAATAAAAAAATAAATTTAAAAAAATAGAGAAAGAAAATAGATTG GTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTAAGGGATATAGGATTT CCTTTCCTTTTATTTTATTTTATTTTATTTTATTTTATTTTAGAGACGGA GTCTCACTTTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCAC TGCAACCTCCGCCTCCTGGGTTCAAGCAGTTCTTGTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGTGTGCACCCCCTTGTCTGGCAAATTTTTATAT TTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAACCTC CTGACCTCAGGTGATCCACCCATGTCGCCCTCCCAAACTGCTGGGATTAC AGGCGTGAGCCACCGCACCCGGCCTATTTTGTTCTTTTTGTTTGTTTTAT TCCGTATCGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCATTGACATGG TGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATT ACCTGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCA TCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTAGCAG GTGGAGGTTGCAGTGAGCCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(53): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG01496.hp1 HG01934.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18939.hp1 NA18940.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18967.hp1 NA18971.hp1 NA18978.hp1 NA18984.hp1 NA18985.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19067.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0010 a0003c0003 others(1): Show a0001c0001 a0001c0010 a0003c0003 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0010t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0010t0005 a0003c0003t0001 a0007c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0003g0081 a0001c0010t0005g0080 a0003c0003t0001g0027 a0007c0007t0001g0007	56	404	0.1386	769	c.113 others(784): Show c.113-649_113-648insTGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACTCCATCTCAAAAAAATAAAAAAATAAATTTAAAAAAATAGAG AAAGAAAATAGATTGGTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTA AGGGATATAGGATTTCCTTTCCTTTTATTTTATTTTATTTTATTTTATTT TATTTTAGAGACGGAGTCTCACTTTTTCACCCAGGCTGGAGTGCAGTGGT GCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAGTTCTTG TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCCCCTTGTCT GGCAAATTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAG GCTGGTCTCAACCTCCTGACCTCAGGTGATCCACCCATGTCGCCCTCCCA AACTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTATTTTGTTCT TTTTGTTTGTTTTATTCCGTATCGGAGTCTTGCTCTGTCACCCAGGCTGG AGTGCATTGACATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGC CAAGGTGGGTGGATTACCTGAGGCCAGGGGTTCGAGACCAGCCTGGCCAA CATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGG TGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATT GCTTGAATCTAGCAGGTGGAGGTTGCAGTGAGCCAAGAT		CCS	ENSG00000173992.9	transcript	ENST00000533244.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(762): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCC TCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTC CCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCT CCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCC CCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCC TCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCT TCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTC CTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCT CCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0129 a0001c0007t0007g0129	1	270	0.0037	769	c.162 others(790): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCT CCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTC TTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCC TCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTC CCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCT CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCC CCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTC CTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCC CTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCC TCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(762): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA GGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAG GACCCGGCGGCCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG01891.hp2 HG03225.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0002 a0005c0023t0002	a0005c0023t0002g0138 a0005c0023t0002g0163 a0005c0023t0002g0138 a0005c0023t0002g0163	2	292	0.0069	769	c.106 others(788): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG GCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCA GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(762): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGG AAGGGGGCAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGC AGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGG GAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0170 a0003c0008t0001g0170	1	344	0.0029	769	c.85- others(786): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTG CCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTG CCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL6A1_chr21_45976770_46010048	45988420	G G	GGGGGTCC others(762): Show GGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGG GGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGT CCAGATGGAGGGGACGGCTGGGTCCAGATGGAGGGGATGTCGGGGCTCCA GATGGAGGGGACGGCAGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATG GAAGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGCTCCAGATGGAG GGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGG ACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG CGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGG GCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAG ATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATG GAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGG GGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT GTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC GGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGG CTCCAGATGGAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0086 a0001c0009t0002g0086	1	128	0.0078	769	c.805 others(784): Show c.805-661_805-660insGTCCAGATGGAGGGGACGTCGGGGCTCCAG ATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATG GAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCTGGGTCCAGATGGAGG GGATGTCGGGGCTCCAGATGGAGGGGACGGCAGGGTCCAGATGGAGGGGA CGGCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGATGGAGGGGATGTC GGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGATGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGG AGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGG GACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAC GGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC GGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG TCCAGATGGAGGGGATGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCC AGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGATGTCGGGGCTCCAGATGGAGGGGACGGCGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(762): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGACAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp1 HG02109.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0183 a0001c0001t0001g0057 a0001c0001t0001g0183	2	198	0.0101	769	c.105 others(788): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGACAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA CACACACACACACACACACACACACACACACACACACAGACAG		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(762): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	198	0.0051	769	c.105 others(788): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA CACACACACACACACACACACACACACACACACACACAGACAG		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(762): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18989.hp1 NA18972.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0161 a0001c0001t0001g0162	2	198	0.0101	769	c.105 others(788): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA CACACACACACACACACACACACACACACACACACACAGACAG		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(762): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA GAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGA GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGA GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG01515.hp2 others(9): Show HG01261.hp1 HG01361.hp2 HG01515.hp2 HG02300.hp2 HG02717.hp2 HG03130.hp1 NA18906.hp1 NA18952.hp2 NA18955.hp2 NA18984.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(9): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0002c0002t0001g0071	12	198	0.0606	769	c.105 others(788): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGA GACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACT GACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGG AGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAG ACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACA GAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACG GACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACA CACACACACACACACACACACACACACACACACACACAGACAG		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(762): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGG CAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGA GAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAA GAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAG ACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAG AAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGA CAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACA GAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACA CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	198	0.0051	769	c.105 others(788): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGA CAGAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGA GAGACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGA CTGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAG GGAGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGAC AGACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGA CAGAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGA CGGACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAA CACACACACACACACACACACACACACACACACACACAGACAG		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EYS_chr6_63714980_65712226	64295518	A A	AAGCAGAA others(762): Show AAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGCAGAAGAA GAAGCAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGC AGAAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGCAGCAG AAGAAGAAGAAGCAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAGCAGAA GAAGAAGCAGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGA AGAAGAAGCAGAAGAAGAAGCAGAAGAAGCAGAAGAAGAAGAAGAAGCAG AAGAAGAAGAAGCAGAAGAAGCAGAAGAAGAAGCAGAAGAAGCAGAAGAA GCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGA AGAAGCAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAG AAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAA GCAGAAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGCAGAAGAAGA AGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGCAGAAGAAGAAG CAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAGCAGAAGA GGAAGAAGAAGCGGAAGCGGAAGAGGAAGCGGAAGAGGAAGAGGAAGAGG AAGAGAGGAAGAGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0015 a0011c0010t0001g0015	1	24	0.0417	769	c.619 others(790): Show c.6191+11451_6191+11452insCTTCCTCCTCTTCCTCTCTTCCTC TTCCTCTTCCTCTTCCGCTTCCTCTTCCGCTTCCGCTTCTTCTTCCTCTT CTGCTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTC TTCTTCTGCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTT CTTCTGCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTTCTGCTTCT TCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTC TTCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTT CTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCT TCTGCTTCTTCTGCTTCTTCTTCTGCTTCTTCTGCTTCTTCTTCTTCTGC TTCTTCTTCTTCTTCTGCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTT CTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTTCTGCTGCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTGCTTCTTCTTCTTCTGC TGCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTTCTTCTGCTT CTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTGCTTCTTCT TCTGCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCT		EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42						chr6	TogoVar
FLT3_chr13_27998274_28105576	27999085	A A	ATGTATAT others(762): Show ATGTATATACATATATATATGTATATACATATATATATGTATATACATAT ATATATATGTATATACATATAAATATATATGTATATACATATAAATATAT ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT ATACATATAAATATATATGTATGTATATTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATTTATATACATATA AATATATATTTACATACATATAAATATATATTTACATACATATAAATATA TACATTTATATACATATAAATATATACATATATACATATAAATATATATT TATATACATATAAATATATATATTTATATATATTTATATATATATAAATA TATATATATTTATATATATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATACATATAAATATATATTTATATACATA TAAATATATAATTATATACATATAAATATATATAATTATATACATATAAA TATATATTTATATACATATAAATATATATTTATATACATATAAATTTATA TACATATAAATATAAATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0021 a0021	a0021c0033 a0021c0033	a0021c0033t0001 a0021c0033t0001	a0021c0033t0001g0200 a0021c0033t0001g0200	1	292	0.0034	769	c.49 others(780): Show c.4966_*4967insAATATTTATATTTATATGTATATAAATTTATATG TATATAAATATATATTTATATGTATATAAATATATATTTATATGTATATA ATTATATATATTTATATGTATATAATTATATATTTATATGTATATAAATA TATATTTATATGTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA TAAATATATATAAATATATATATTTATATGTATATAAATATATATTTATA TGTATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTA TGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAATATACATACATATATATTTATATGTATATACATATATATTT ATATGTATATACATATATATTTATATGTATATACATATATATTTATATGT ATATACATATATATTTATATGTATATACATATATATATATGTATATACAT ATATATATGTATATACATATATATATGTATATACA		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4188		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(762): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCTCTCCCTCCCTCCCCT TCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCTC TCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTCC CTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCT CTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCC CCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTC TCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCT CTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCT CCATCCTCCCCTCTCTTCCTCCGTCTCCCCCTCTCCCCCCCCTCCTTCTC TCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCCC CCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTT CTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCCCCTTTCCCTCCC TCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCTCCCCCCTCTCCCTCT CCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTCT GTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03654.hp2 HG00099.hp1 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0102 a0001c0002t0008g0219 a0001c0002t0002g0102 a0001c0002t0008g0219	2	230	0.0087	769	c.126 others(786): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGGA AAGGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGG GGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAG AGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGA GGGGGGGGAGAGGGGGAGACGGAGGAAGAGAGGGGAGGATGGAGAGAGGG GAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCG GGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGA GCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAG GGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAG GGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGA GGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGT AGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGGAGG GAGGGAGAGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGA GAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13						chr21	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(762): Show TAGTAACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAA TATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA19085.hp2 NA18972.hp1 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0194 a0003c0003t0002g0196 a0003c0003t0002g0194 a0003c0003t0002g0196	2	268	0.0075	769	c.-28 others(780): Show c.-2852_-2851insAGTAACTATATTAATAATATAGTATATTAATATA TAGTAACTATATTAATATATAGTAACTATATTAATATAGTTAGTATATAT TAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAA		GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding					2351		chr4	TogoVar
HNRNPC_chr14_21204147_21274442	21260117	G G	GTGAACCC others(762): Show GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAATAGTCAGGTGTTGTGGTGCATGTCTGTAATCCCAGCTATAC AGGAGGCTGAGGCCAGAGGATAGCTTGAACCCAGGGGGTCAAGGCTGCAG TGAGCCTTGTTAATGTCACTGCAGTCCAGCCTGGGTGACAGAACAAGACC CTGTCTCAAAAAATAAAAATAAAAGGAAAATCTGATGTCACTTTCCAGTT TAGAATATTTCTAAAATGGCTCAACATTGGTTTCTGGATAAAATATAAAT TCCTTGGCATGTATGGCAATCAAACTTTTATTCTCTGGCCTTAAGATTCA TTTCAGTACACTACCTCTCTTAAAAGGATCCCGTCGGCCAGGCACAGTGG CTCACGCCAGTAATTCCAACTTTGGGAGGCCGAGGTGAGCTGATCTCAAG GTCAGGAGTTCAAGACCAGCCTCGCCAAGATGAAACCCCGTCTCTACTAA AAATATAAAAATTAGCCAGGTAGCCGGGCGCGGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGGTCAGGAGATCC AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAG GCTGAGGCAGGAGAATGGCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	388	0.0026	769	c.-37 others(786): Show c.-37+3193_-37+3194insTGCCATTCTCCTGCCTCAGCCTCCTGAG TAGCAGGGACTACAGGCGCCCACCACCACACCTGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTGGATCTCC TGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACCGCGCCCGGCTACCTGGCTAATTTTTATATTTTTAGTAGA GACGGGGTTTCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTTGAGAT CAGCTCACCTCGGCCTCCCAAAGTTGGAATTACTGGCGTGAGCCACTGTG CCTGGCCGACGGGATCCTTTTAAGAGAGGTAGTGTACTGAAATGAATCTT AAGGCCAGAGAATAAAAGTTTGATTGCCATACATGCCAAGGAATTTATAT TTTATCCAGAAACCAATGTTGAGCCATTTTAGAAATATTCTAAACTGGAA AGTGACATCAGATTTTCCTTTTATTTTTATTTTTTGAGACAGGGTCTTGT TCTGTCACCCAGGCTGGACTGCAGTGACATTAACAAGGCTCACTGCAGCC TTGACCCCCTGGGTTCAAGCTATCCTCTGGCCTCAGCCTCCTGTATAGCT GGGATTACAGACATGCACCACAACACCTGACTATTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA		HNRNPC	ENSG00000092199.19	transcript	ENST00000553300.6	protein_coding	2/8						chr14	TogoVar
HNRNPC_chr14_21204147_21274442	21260117	G G	GTGAACCC others(762): Show GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAATAGTCAGGTGTTGTGGTGCATGTCTGTAATCCCAGCTATAC AGGAGGCTGAGGCCAGAGGATAGCTTGAACCCAGGGGGTCAAGGCTGCAG TGAGCCTTGTTAATGTCACTGCAGTCCAGCCTGGGTGACAGAACAAGACC CTGTCTCAAAAAATAAAAATAAAAGGAAAATCTGATGTCACTTTCCAGTT TAGAATATTTCTAAAATGGCTCAACATTGGTTTCTGGATAAAATATAAAT TCCTTGGCATGTATGGCAATCAAACTTTTATTCTCTGGCCTTAAGATTTA TTTCAGTACACTACCTCTCTTAAAAGGATCCCGTCGGCCAGGCACAGTGG CTCACGCCAGTAATTCCAACTTTGGGAGGCCGAGGTGAGCTGATCTCAAG GTCAGGAGTTCAAGACCAGCCTCGCCAAGATGAAACCCCGTCTCTACTAA AAATATAAAAATTAGCCAGGTAGCCGGGCGCGGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGGTCAGGAGATCC AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAG GCTGAGGCAGGAGAATGGCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	388	0.0026	769	c.-37 others(786): Show c.-37+3193_-37+3194insTGCCATTCTCCTGCCTCAGCCTCCTGAG TAGCAGGGACTACAGGCGCCCACCACCACACCTGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTGGATCTCC TGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACCGCGCCCGGCTACCTGGCTAATTTTTATATTTTTAGTAGA GACGGGGTTTCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTTGAGAT CAGCTCACCTCGGCCTCCCAAAGTTGGAATTACTGGCGTGAGCCACTGTG CCTGGCCGACGGGATCCTTTTAAGAGAGGTAGTGTACTGAAATAAATCTT AAGGCCAGAGAATAAAAGTTTGATTGCCATACATGCCAAGGAATTTATAT TTTATCCAGAAACCAATGTTGAGCCATTTTAGAAATATTCTAAACTGGAA AGTGACATCAGATTTTCCTTTTATTTTTATTTTTTGAGACAGGGTCTTGT TCTGTCACCCAGGCTGGACTGCAGTGACATTAACAAGGCTCACTGCAGCC TTGACCCCCTGGGTTCAAGCTATCCTCTGGCCTCAGCCTCCTGTATAGCT GGGATTACAGACATGCACCACAACACCTGACTATTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA		HNRNPC	ENSG00000092199.19	transcript	ENST00000553300.6	protein_coding	2/8						chr14	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(762): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGAAGGGAGAAAGGAAGAGGGGAGGAGGAGGAAGAAAG GAAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0094 a0001c0001t0033g0094	1	386	0.0026	769	c.-46 others(780): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTTCCTCCTC CTCCCCTCTTCCTTTCTCCCTTCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTT TCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTT TCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTC CCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTC CCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCC CTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTC CCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCC TCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC		KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding					4566		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228711	A A	ACACTCAC others(762): Show ACACTCACCCGAAAGATCCCTCTCCACCCCCCTACCACCAAACACTCACC TGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCT CTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCC AACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCA CTCACCCGAAAGATCCCTCTCCACCCCCCTACCACCACTCACCCGAAAGA TCCCTCCCCATCCCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCT CCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCCTACCACCACTCACCCG AAAGATCCCTCCCCATCCCCCCCAACCACCAAACACTCACCTGAGAGATC CCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTTCACCCC CCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCAACCACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTC CACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCACACC ACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCAACCACCAAACACTC ACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATC CCTCTCCACCCCCCAACCAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0300 a0001c0001t0032g0300	1	398	0.0025	769	c.64+ others(786): Show c.64+11928_64+11929insGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTT GGTGGTTGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTGTGGG GGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGA TCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGG TTGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAA GAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTC AGGTGAGTGTTTGGTGGTTGGGGGGGATGGGGAGGGATCTTTCGGGTGAG TGGTGGTAGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGG GTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGAT CTCTCAGGTGAGTGTTTGGTGGTTGGGGGGGATGGGGAGGGATCTTTCGG GTGAGTGGTGGTAGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATG GCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGGA TGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCT TTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTG TTTGGTGGTAGGGGGGTGGAGAGGGATCTTTCGGGTGAGTG		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228891	A A	ACCCCCGC others(762): Show ACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCA CCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGAT CCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCA CCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACC CGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATC CCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCC CCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACCACT CACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATC CCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCC CAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCA CCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGA TCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTTCACC CCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCCACCACT CACCCGAAAGATCCCTCTCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0123 a0001c0001t0057g0123	1	398	0.0025	769	c.64+ others(786): Show c.64+11748_64+11749insGGAGAGGGATCTTTCGGGTGAGTGGTGG GGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGA GGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGA TGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTC AGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTG GTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGG GGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGG GATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCA GGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGG TGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGG GGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGG		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
LHFPL3_chr7_104323603_104913561	104824176	A A	ATATATAT others(762): Show ATATATATAATATATATATTATATATTATATATATAATATATATATTATA TATTATATATATAATATATAATATATATTATATATATTATATTATATATT ATATATATAATATATTATATATTATATATATATTATATAATATATTATAT ATTATATATATATTATATTATATATTATATATAATTATATATATTTTATA TATTATATATTATATATTATATATTATATATTATATATATTATATATTAT ATATTATATATTATATATATTATATATTATATATTATATTTTATATATAT TATATATTATATATACAATTATATATATTATATATATTATATATTATATA TATTATATATTATATAATATATAATATATATTATATATTATATATTATAT AATATATATATAATATATTATATATTATATATTATATAATATATTATATA TAATATATATTATATATTATATATTATATAATATATAATATATAATATAT ATTATATATATAATATATTATATAATATATTATATATATAATATATTATA TAATATATTATATATATAATATATATTATATATAATATATATAATTGTAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAA TATATATAATATATAATATATAATATATAATATATATAATATATAATATA TAATATATAATATATAATATATAAAATATATATATAAAATATATTATGTA TTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	86	0.0116	769	c.683 others(788): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATATATATAATATATAATATATATTATATATATTATATT ATATATTATATATATAATATATTATATATTATATATATATTATATAATAT ATTATATATTATATATATATTATATTATATATTATATATAATTATATATA TTTTATATATTATATATTATATATTATATATTATATATTATATATATTAT ATATTATATATTATATATTATATATATTATATATTATATATTATATTTTA TATATATTATATATTATATATACAATTATATATATTATATATATTATATA TTATATATATTATATATTATATAATATATAATATATATTATATATTATAT ATTATATAATATATATATAATATATTATATATTATATATTATATAATATA TTATATATAATATATATTATATATTATATATTATATAATATATAATATAT AATATATATTATATATATAATATATTATATAATATATTATATATATAATA TATTATATAATATATTATATATATAATATATATTATATATAATATATATA ATTGTATATATAATATATAATATATAATATATAATATATATAATATATAA TATATAATATATATAATATATAATATATAATATATAATATATATAATATA TAATATATAATATATAATATATAATATATAAAATATATATATAAAATATA TTATGTATTATATATTATATAATATATTATATATAATATATAT		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(762): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACGTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	296	0.0034	769	c.368 others(786): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTACGTGGCCCGGTATG TAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGG TATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(762): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18939.hp2 NA18951.hp1 others(4): Show HG00438.hp2 NA18939.hp2 NA18951.hp1 NA18954.hp1 NA18985.hp2 NA18993.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0017 a0001c0001 a0002c0003 a0002c0017	a0001c0001t0001 a0002c0003t0002 a0002c0017t0002 a0001c0001t0001 a0002c0003t0002 a0002c0017t0002	a0001c0001t0001g0200 a0002c0003t0002g0051 a0002c0003t0002g0063 others(4): Show a0001c0001t0001g0200 a0002c0003t0002g0051 a0002c0003t0002g0063 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0017t0002g0123	7	296	0.0237	769	c.368 others(786): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATG TAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGG TATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(762): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18943.hp2 NA18942.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0182 a0001c0001t0010g0213 a0001c0001t0001g0182 a0001c0001t0010g0213	2	296	0.0068	769	c.368 others(786): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATG TAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGG TATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(762): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACTGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0105 a0003c0005t0002g0105	1	296	0.0034	769	c.368 others(786): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCAGTATG TAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGG TATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(762): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AAGAAGTTAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	228	0.0044	769	c.337 others(788): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAGAAGTTAAAAAAAAAAAAAAGAGTTTTGCTTCT		LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP3K19_chr2_134959491_135052447	135033464	A A	ACACCCCG others(762): Show ACACCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGATGACCCCCCCACCT CCCTCCCGGAAGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCCCCCCTCACCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGTGGCTGGCCG GGCAGAGGGGCTCCCCACCTCCCAGCAGGGGTGGCTGGGCAGAGGCGCCC CCCACCCCCCGGACGGGGCGGCCGGCCGGGGGGGCTAACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CTGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCTG GCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCGGGCG GGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0101 a0001c0002t0003g0101	1	334	0.0030	769	c.-28 others(788): Show c.-283-2965_-283-2964insGAGGTGGGGGGGTCAGCCCCCGCCCG GCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAGGCC AGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC ACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTTAGCCCCCCCGGCCGGCCGCCCCGTCCGGGGGGTGGGGGGCGC CTCTGCCCAGCCACCCCTGCTGGGAGGTGGGGAGCCCCTCTGCCCGGCCA GCCACCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCATCCGGGAGGTGAGGGGGGCCTCTGCCCAGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCGCCCGGCCAGCCACCCCTTCCGGGAGGGAGGTGG GGGGGTCATCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGGTG		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12						chr2	TogoVar
MBD3L3_chr19_7051207_7063676	7061789	A A	AATTATAT others(762): Show AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAAATTATATAT AATATAGAATATAATTATATAATATATAATTATATTCTATATAGAATATA ATTATATAATATATAATTATATTCTATAGAATATAATTATATAATATATA ATTATATTCTATAGAATATAATTATATAATATATAATTATATTCTATAGA ATATAATTATATAATATATAATTATATTCTATATTATATAATTATAATAT AATTATATAATATAATTATATTATATATAATTATATTAAATATATTATAT AATATATAATTATATTATATATTATATAATATATAATTATAATTATATAT TATATAATATATAATTATATTATATATTATATAATATATAATTATATTAT ATAATATATAATATATAATATAATTATATATTATATAATATATAATTATA TTATATATTATAATACATTTAATATAATTATATGATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	769	c.-31 others(780): Show c.-3185_-3184insGAATATAATTATATTATATATAATTATATATAGA ATATAATTATATATTATAACATATTATATATAATTATATTATAGATTATG ATCTATAATATAATTATATATAATATGTTATAATATAATTATATATAATA TATTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCT ATCATATAATTATATTAAATGTATTATAATATATAATATAATTATATATT ATATAATATATAATTATATTATATATTATATATTATATAATATAATTATA TATTATATAATATATAATATAATTATATATTATATAATATATAATTATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATTTA ATATAATTATATATAATATAATTATATTATATAATTATATTATAATTATA TAATATAGAATATAATTATATATTATATAATTATATTCTATAGAATATAA TTATATATTATATAATTATATTCTATAGAATATAATTATATATTATATAA TTATATTCTATAGAATATAATTATATATTATATAATTATATTCTATATAG AATATAATTATATATTATATAATTATATTCTATATTATATATAATTTATA TATTATATAATTATATTATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3114		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061789	A A	AATTATAT others(762): Show AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAAATTATATAT AATATAGAATATAATTATATAATATATAATTATATTCTATATAGAATATA ATTATATAATATATAATTATATTCTATAGAATATAATTATATAATATATA ATTATATTCTATAGAATATAATTATATAATATATAATTATATTCTATAGA ATATAATTATATAATATATAATTATATTCTATATTATATAATTATAATAT AATTATATAATATAATTATATTATATATAATTATATTAAATATATTATAT AATATATAATTATATTATATATTATATAATATATAATTATAATTATATAT TATATAATATATAATTATATTATATATTATATAATATATAATTATATTAT ATAATATATAATATATAATATAATTATATATTATATAATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02135.hp2 HG02165.hp1 others(14): Show HG00609.hp2 HG02135.hp2 HG02165.hp1 HG03490.hp2 HG03491.hp1 NA18612.hp2 NA18945.hp2 NA18951.hp2 NA18960.hp2 NA18964.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp2 NA18994.hp2 NA19000.hp2 NA19064.hp1 NA19088.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0001 a0006c0008t0001 a0002c0002t0001 a0006c0008t0001	a0002c0002t0001g0004 a0002c0002t0001g0006 a0006c0008t0001g0016 a0002c0002t0001g0004 a0002c0002t0001g0006 a0006c0008t0001g0016	17	288	0.0590	769	c.-31 others(780): Show c.-3185_-3184insGAATATAATTATATTATATATAATTATATATAGA ATATAATTATATATTATAACATATTATATATAATTATATTATAGATTATG ATCTATAATATAATTATATATAATATGTTATAATATAATTATATATAATA TATTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCT ATAATATAATTATATTAAATGTATTATAATATATAATATAATTATATATT ATATAATATATAATTATATTATATATTATATATTATATAATATAATTATA TATTATATAATATATAATATAATTATATATTATATAATATATAATTATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATTTA ATATAATTATATATAATATAATTATATTATATAATTATATTATAATTATA TAATATAGAATATAATTATATATTATATAATTATATTCTATAGAATATAA TTATATATTATATAATTATATTCTATAGAATATAATTATATATTATATAA TTATATTCTATAGAATATAATTATATATTATATAATTATATTCTATATAG AATATAATTATATATTATATAATTATATTCTATATTATATATAATTTATA TATTATATAATTATATTATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3114		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061789	A A	AATTATAT others(762): Show AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAAATTATATAT AATATAGAATATAATTATATAATATATAATTATATTCTATATAGAATATA ATTATATAATATATAATTATATTCTATAGAATATAATTATATATTATATA ATTATATTCTATAGAATATAATTATATAATATATAATTATATTCTATAGA ATATAATTATATAATATATAATTATATTCTATATTATATAATTATAATAT AATTATATAATATAATTATATTATATATAATTATATTAAATATATTATAT AATATATAATTATATTATATATTATATAATATATAATTATAATTATATAT TATATAATATATAATTATATTATATATTATATAATATATAATTATATTAT ATAATATATAATATATAATATAATTATATATTATATAATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA19062.hp1 NA18986.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	2	288	0.0069	769	c.-31 others(780): Show c.-3185_-3184insGAATATAATTATATTATATATAATTATATATAGA ATATAATTATATATTATAACATATTATATATAATTATATTATAGATTATG ATCTATAATATAATTATATATAATATGTTATAATATAATTATATATAATA TATTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCT ATAATATAATTATATTAAATGTATTATAATATATAATATAATTATATATT ATATAATATATAATTATATTATATATTATATATTATATAATATAATTATA TATTATATAATATATAATATAATTATATATTATATAATATATAATTATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATTTA ATATAATTATATATAATATAATTATATTATATAATTATATTATAATTATA TAATATAGAATATAATTATATATTATATAATTATATTCTATAGAATATAA TTATATATTATATAATTATATTCTATAGAATATAATTATATAATATATAA TTATATTCTATAGAATATAATTATATATTATATAATTATATTCTATATAG AATATAATTATATATTATATAATTATATTCTATATTATATATAATTTATA TATTATATAATTATATTATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3114		chr19	TogoVar
MUC4_chr3_195741771_195816929	195788110	T T	TCGGTGAC others(762): Show TCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCT GGTGACAGGAAGAGGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCG GTGACCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGT GACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGA CAGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACA GGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGG AAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAA GAGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGA GGGGTGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGG GGTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGG TGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTG GTGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGT GTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGT CACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGA CCTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGATGGGTGGTGTCATC TGTGGAAGCTGAAGAAAGGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18974.hp2 NA18974.hp2	a0132 a0132	a0132c0128 a0132c0128	a0132c0128t0001 a0132c0128t0001	a0132c0128t0001g0170 a0132c0128t0001g0170	1	249	0.0040	769	c.346 others(778): Show c.3469_3470insGCCTTTCTTCAGCTTCCACAGATGACACCACCCATC TTCCTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTT CCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTG TCACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACACTAACTCAGCATCCACAGGTGACACCACCCCTCTTCATGTCACCGAC GCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCT TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTT CCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCC TCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTC AGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAG TGTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTA TCTACAGGACAGGCCACCCCCTCTTCCTGTCACCAGCCTTTCCTCAGCAT CCACTGGTGACACCACGCCGCTTCCTGTCACCG	p.Asp others(6): Show p.Asp1157fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3581/16756	3469/16239	1157/5412			chr3	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(762): Show TAGTAACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAA TATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0275	1	422	0.0024	769	c.195 others(786): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATATACTAACTATATTAATATAGTTACTATATATTAATATA GTTACTATATATTAATATACTATATTATTAATATAGTTACT		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17						chr4	TogoVar
NPBWR2_chr20_64098802_64112565	64105547	T T	TGGTGGGG others(762): Show TGGTGGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGGGGGTG GGCGTGATGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGATGAT GGGGGTGGTGGTGGGGGTGATGGTGGGGGTGGTGGTGGGCGTGATGATGG GGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGGGGGTGGGG GTGGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGATGGGGGTGGGCAT GATGATGGGCGTGATGATGGGGGTGGTGGTGGGGGTGATGGTGGGGGTGG TGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGG GTGATGGTGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGATGGTGGA TGTGATGGGGGTGGGCATGATGATGGGCGTGATGATGGGGGTGGTGGTGG GGGTGATGGTGGGGGTGGTGGTGGGCGTGATGATGGGGGTGATGGTGGGG GTGGTGGTGGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGGG GGTGGGCGTGATGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGA TGATGGGGGTGGTGGGGGTGGGCGTGATGGTGGATGTGATGGGGGTGGGC ATGATGATGGGCATGATGATGGGCGTGATGATGGGGGTGATGGTGGGGGT GGTGGTGGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGCGTGATGATGG GGGTGATGGTGGGGGTGGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0063 a0001c0002t0086g0063	1	355	0.0028	769	c.28 others(778): Show c.282_*283insCACCACCCCCACCATCACCCCCATCATCACGCCCAC CCCCACCCCCACCATCACCCCCACCCCCACCACCACCCCCACCATCACCC CCATCATCACGCCCATCATCATGCCCATCATCATGCCCACCCCCATCACA TCCACCATCACGCCCACCCCCACCACCCCCATCATCACGCCCATCATCAT GCCCACCCCCATCACATCCACCATCACGCCCACCCCCATCACCCCCACCC CCACCCCCACCATCACCCCCACCCCCACCACCACCCCCACCATCACCCCC ATCATCACGCCCACCACCACCCCCACCATCACCCCCACCACCACCCCCAT CATCACGCCCATCATCATGCCCACCCCCATCACATCCACCATCACGCCCA CCCCCATCACCCCCACCCCCACCCCCACCATCACCCCCACCCCCACCACC ACCCCCACCATCACCCCCATCATCACGCCCACCACCACCCCCACCATCAC CCCCACCACCACCCCCATCATCACGCCCATCATCATGCCCACCCCCATCA CATCCACCATCACGCCCACCCCCATCACCCCCACCCCCACCCCCACCATC ACCCCCACCCCCACCACCACCCCCACCATCACCCCCATCATCACGCCCAC CACCACCCCCACCATCACCCCCACCACCACCCCCATCATCACGCCCATCA TCATGCCCACCCCCATCACATCCACCATCACGCCCACCCCCATCACCCCC ACCCCCACCCCCACCATCACCCCCACCCCCACC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				282		chr20	TogoVar
NXN_chr17_794310_984776	841411	T T	TGACCACG others(762): Show TGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGC ATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCC GCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCC CCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCAT GCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAG GTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGA CCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATC TCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGA GCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCG CATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGG GCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTC CCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCAC AGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCAC ACCCACAGGCAGGTCCCCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0238 a0001c0001t0031g0238	1	242	0.0041	769	c.361 others(788): Show c.361-15334_361-15333insGGGGGGACCTGCCTGTGGGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGT GGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCG CTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGG GGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGA TGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCT GCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGT GAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTG TGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar

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