Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NOTCH1_chr9_136489433_136551048	136535671	T T	TGGAGGGG others(759): Show TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGG TGCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	324	0.0031	766	c.140 others(783): Show c.140+8352_140+8353insCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCTCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTG CCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC TCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTACT others(759): Show CTTGTACTACAGTATAGTATACTATACTACAGTATAGTATACTATACTAC AGTATAGTATACTATACTACAGTATAGTATACTATACTACAGTATAGTAT ACTATACTACAGTATAGTATACTATACTACAGTATAGTATACTATACTAT ACTACAGTATAGTATACTATACTATACTACAGTATAGTATACTATACTAT ACTACAGTATAGTATACTATACTATACTACAGTATAGTATACTATACTAT ACTACAGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTAT ACTACAGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTAT ACTACAGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTAT ACTACAGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTAT ACTACAGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTAT ACTACAGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTAT ACTACAGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTAT ACTACAGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTAT ACTACAGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTAT ACTACAGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTAT ACTACAGTATAGTATAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0096 a0005c0006t0011g0096	1	318	0.0031	766	c.-27 others(785): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTATAG TATACTATACTGTAGTATAGTATAGTATACTATACTGTAGTATAGTATAG TATACTATACTGTAGTATAGTATAGTATACTATACTGTAGTATAGTATAG TATACTATACTGTAGTATAGTATACTATACTGTAGTATAGTATACTATAC TGTAGTATAGTATACTATACTGTAGTATAGTATACTATACTGTAGTATAG TATACTATACTGTAGTATAGTATACTATACTGTAGTACAA	OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4			chr17	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(759): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	766	c.70 others(777): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PIEZO1_chr16_88710338_88790220	88729486	A A	ACAAAAAC others(759): Show ACAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACC CACAGCCCCATCTGCCACAGAGGGAACCTCGTGACCCAAAAACAAAGTGA CCCTCGATGCTGGGGAACCCAGGACATTCTGAACCCACAGCCCCATCTGC CACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGCTGGGG AACCCAGGACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTT GCGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCT GAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACAA AGTGACCCTCGATGTTGGGGAACCCAGGACATGCTGATCTCACAGCCCCA TCTGCCACAGAGGGAACCTCGTGACACAAAAACAAAGTGACCCTCGATGC TGGGGAACCCAGGACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGA ACCTCGTGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGAC ATTCTGAACCCACAGCCCCCATCTGCCACAGAGGGAACCTCGCGACCCAA AAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACGTGCTGAACCCACA GCCCCATCTGCCACAGAGGGAACCTCGCGACACAAAAACAAAGTGACCCT CGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCCATCTGCCACA GAGGGAACCTCGCGACC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0005 a0005	a0005c0118 a0005c0118	a0005c0118t0001 a0005c0118t0001	a0005c0118t0001g0197 a0005c0118t0001g0197	1	282	0.0036	766	c.319 others(785): Show c.3197-1826_3197-1825insGGTCGCGAGGTTCCCTCTGTGGCAGA TGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACT TTGTTTTTGTGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTC AGCACGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGC GAGGTTCCCTCTGTGGCAGATGGGGGCTGTGGGTTCAGAATGTCCTGGGT TCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCACGAGGTTCCCTCTGT GGCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGG GTCACTTTGTTTTTGTGTCACGAGGTTCCCTCTGTGGCAGATGGGGCTGT GAGATCAGCATGTCCTGGGTTCCCCAACATCGAGGGTCACTTTGTTTTTG GGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGCATGTCC TGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGCAAGGTTCCC TCTGTGGCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCAT CGAGGGTCACTTTGTTTTTGGGTCGCGAGGTTCCCTCTGTGGCAGATGGG GCTGTGGGTTCAGAATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGT TTTTGGGTCACGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGCA TGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTTTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PISD_chr22_31613491_31667215	31640903	T T	TTTTTTTT others(759): Show TTTTTTTTTTTTTTTGAGATGTAATGTGGCTGGGCACGGAGGCTCATGCC TGTAACCCCAACACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTTA GGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATAAATACAAAA ATTAACCGGGCATGGTGGCAGGCGTGCACCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGTGAGTTGAGATC ATGCCATTGCATTCCAGCCTGGACGACAGAGTGAGACTCTGTCAAAACAA AACAAAACAAAACAAAACAAAACAAAAAAAAATCTAATGTGTTTTTTGAA GTCAGTAACTGCTCCATGTTATGGCTGGTCTATCCCAGCAATGGACTTTT CATTCCTTTAATGACTCATTCTGTGAAGATAAGTGCAGAGAATCTATTAA GATGTTAAAACTGGCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAA AAATTAGCCAGGTATGGTGGCTCATGCCTGTAGTCCCAGCTACTCAGGAG GCTTGAGCCCAGGAGTTCAAGACTGCAGTGAGCTGTGATGGTGCCACTGC ACTCCAGCCTGGGCAATAGAGCAAGACCCTGTGTCTTAAAAAAAGTCTTT AAGATAATCTATAGATCTGCTACAGCAAATATTTAGGGCATAAATATGTC TTAAAACTTTCTAGAAGCTAATGTGAAAGAGAAATTTATCAGTTACACAA TCCGGCTACTGGGACTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	328	0.0031	766	c.321 others(783): Show c.321+7197_321+7198insCAGTCCCAGTAGCCGGATTGTGTAACTG ATAAATTTCTCTTTCACATTAGCTTCTAGAAAGTTTTAAGACATATTTAT GCCCTAAATATTTGCTGTAGCAGATCTATAGATTATCTTAAAGACTTTTT TTAAGACACAGGGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGCACC ATCACAGCTCACTGCAGTCTTGAACTCCTGGGCTCAAGCCTCCTGAGTAG CTGGGACTACAGGCATGAGCCACCATACCTGGCTAATTTTTGTAGAGATG AGGTCTTGCTATGTTGCCCAGGCTGCCAGTTTTAACATCTTAATAGATTC TCTGCACTTATCTTCACAGAATGAGTCATTAAAGGAATGAAAAGTCCATT GCTGGGATAGACCAGCCATAACATGGAGCAGTTACTGACTTCAAAAAACA CATTAGATTTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGACA GAGTCTCACTCTGTCGTCCAGGCTGGAATGCAATGGCATGATCTCAACTC ACTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGATTACAGGTGCACGCCTGCCACCATGCCCGGTTAATTTTTGTATTTA TGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGT GATCCGCCCACCTCAGCCTCCCAAAGTGTTGGGGTTACAGGCATGAGCCT CCGTGCCCAGCCACATTACATCTCAAAAAAAAAAAAAA	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PKP3_chr11_389209_409908	401808	G G	GGCCCCGC others(759): Show GGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCTGCCCCGCT CACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0155 a0001c0003t0001g0155	1	216	0.0046	766	c.173 others(785): Show c.1737+1103_1737+1104insGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCA CCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCA CACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCA GCCCCGCTCACACCTGCCCCGCTCACCCCCGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
POLG_chr15_89311320_89339824	89325073	T T	TGAGAGAG others(759): Show TGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGTGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGTGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0190 a0002c0002t0001g0191	2	398	0.0050	766	c.194 others(783): Show c.1949+376_1949+377insTCTCACTCTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCTCTCACTCACTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTC ACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCAC TCTCTCACTCACTCACTCACTCACTCTCACTCACTCTCTCACTCACTCTC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTC ACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTC TCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCTCTC ACTCACTCTCTCACTCTCTCACTCACTCACTCACTCACTCTCACTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACACTCACTCACTCACTCACTCACTCTC TCACTCTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCAC TCACTCACTCACTCACTCTCACTCACTCACTCTCTCACTCACTCACTCAC TCACTCACTCTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCAC TCACTCACTCACTCACTCACTCACTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PRKCZ_chr1_2045411_2190395	2106663	T T	TGTCACCA others(759): Show TGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGG GCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTCAGCAAGCCCC TCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGG CGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCC TCCGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAG CAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTG ACTCTTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCA GGCCAGGTGACTCTCAGCAAGCCCCTCCACACGTGTCACCAGGCCAGGTG ACTCTTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCA GGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGT GTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGAC CTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTG GGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCC CTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTC AGCAAGCCCCTCCACAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0275 a0001c0003t0001g0275	1	286	0.0035	766	c.335 others(785): Show c.335-28597_335-28596insCACCAGGCCAGGTAACTCTCAGCAAG CCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTC TTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCC AGGTGACTCTCAGCAAGCCCCTCCACACGTGTCACCAGGCCAGGTAACTC TCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTGACTCTTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACGTGTGTC ACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCA CACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCGGTGGGCGA GGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTCAGCAAGCCCCTCCA CACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCGGTGGGCGA GGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCT GGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAA GCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACT CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGC CAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCACACGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133982	T T	TCTCTCCC others(759): Show TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	227	0.0044	766	c.25 others(777): Show c.2550_*2551insCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2270		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	492360	T T	TCCTCCCG others(759): Show TCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGC CCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGG CCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCC CGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACC CGAGGCCGCCCAGAGCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0170 a0001c0002t0026g0170	1	295	0.0034	766	c.126 others(785): Show c.1265+3361_1265+3362insCTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCC GGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACC CGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCT TCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCG CCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBPMS_chr8_30379541_30577256	30388413	C C	CTATAGCT others(759): Show CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	304	0.0033	766	c.66+ others(781): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(759): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG GAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGT GTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGG CGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAG GAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGG CGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	412	0.0024	766	c.205 others(781): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACT GCCCACGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC ACTCCCCACGCCGACCCCTCCTCACTCCCCACTGCACACGCCGACCCCTC CTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACGCCGACCC CTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCC ACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTC CCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCC CTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1288857	C C	CCCTGCTC others(759): Show CCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCG TCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CCCTGCTCCGTCCCGTG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0027 a0002c0003t0002g0027	1	290	0.0035	766	c.166 others(783): Show c.1662+820_1662+821insCCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SIGIRR_chr11_400716_419999	401808	G G	GGCCCCGC others(759): Show GGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCTGCCCCGCT CACCCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	242	0.0041	766	c.40 others(777): Show c.4087_*4088insGAGCGGGGCCGGGGGTGAGCGGGGCAGGTGTGAG CGGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTG AGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGT GAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGC CGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAG CGGGGCGGGTGTGAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3907		chr11	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(759): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGA GGAGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGA GGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGA GGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAA GGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAG GAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0179 a0001c0005t0005g0179	1	350	0.0029	766	c.624 others(781): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCT CCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTC CTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCT TTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCT TTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCT CCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCT CCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCC CCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCT CCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTC CTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SREBF1_chr17_17806334_17841986	17831079	A A	AGCCACCT others(759): Show AGCCACCTGCCCACTGCCTCCTTGGACCCACTCCCAGCACCCTCCTCTCC ATCCCCCCAACCCTGTCCCTTCAGATGCATTAGGGCTGAACCCCTGGGGG CTCAAAGGCAGCAAATCATACAGCCTCCATCTCCTGCTTTTCAAGGGAGG CCCCCACAGTTCAGAGAGGGCAAGATACTTTCCCTAGGAGCAACAGCAAT GCGTGGTCGCACTGGGAGGACTTTCTGCTGCCCTGGGGTTAGACAGGCTG GATGCAGAGGCAGAAAAGGGCATGGGAAGGGGAACATGTCTGATAGGCGA GACCCCTCAGGCTCCACCCCTGAGGGGCTGTCAACACGGGAATGAGGGAG AAGGGGCACCATACCAGAGCAGGCTCTGCCTGAGGTGGGGGTTCTGGATA AATGGGCAATATCACACGAGGGGCATGTTTGGCAATCCTTGCATGTCTTG AATGCCATGCTGAGGCAAGGGAACTTCTTTTTTTTTTTTTTTTGAGATGG AGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCA CTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACTATGTTAGCCAGGATGGTCTCCATC TCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAAGTGCTGGGATTA CAGGCATGAGCCACCGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	352	0.0028	766	c.91+ others(781): Show c.91+5647_91+5648insGCGGTGGCTCATGCCTGTAATCCCAGCACT TTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATGGAGACCATC CTGGCTAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATCG CACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAA AAAAAAAAAAGAAGTTCCCTTGCCTCAGCATGGCATTCAAGACATGCAAG GATTGCCAAACATGCCCCTCGTGTGATATTGCCCATTTATCCAGAACCCC CACCTCAGGCAGAGCCTGCTCTGGTATGGTGCCCCTTCTCCCTCATTCCC GTGTTGACAGCCCCTCAGGGGTGGAGCCTGAGGGGTCTCGCCTATCAGAC ATGTTCCCCTTCCCATGCCCTTTTCTGCCTCTGCATCCAGCCTGTCTAAC CCCAGGGCAGCAGAAAGTCCTCCCAGTGCGACCACGCATTGCTGTTGCTC CTAGGGAAAGTATCTTGCCCTCTCTGAACTGTGGGGGCCTCCCTTGAAAA GCAGGAGATGGAGGCTGTATGATTTGCTGCCTTTGAGCCCCCAGGGGTTC AGCCCTAATGCATCTGAAGGGACAGGGTTGGGGGGATGGAGAGGAGGGTG CTGGGAGTGGGTCCAAGGAGGCAGTGGGCAGGTGGC	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17831079	A A	AGCCACCT others(759): Show AGCCACCTGCCCACTGCCTCCTTGGACCCACTCCCAGCACCCTCCTCTCC ATCCCCCCAACCCTGTCCCTTCAGATGCATTAGGGCTGAACCCCTGGGGG CTCAAAGGCAGCAAATCATACAGCCTCCATCTCCTGCTTTTCAAGGGAGG CCCCCACAGTTCAGAGAGGGCAAGATACTTTCCCTAGGAGCAACAGCAAT GCGTGGTCGCACTGGGAGGACTTTCTGCTGCCCTGGGGTTAGACAGGCTG GATGCAGAGGCAGAAAAGGGCATGGGAAGGGGAACATGTCTGATAGGCGA GACCCCTCAGGCTCCACCCCTGAGGGGCTGTCAACACGGGAATGAGGGAG AAGGGGCACCATACCAGAGCAGGCTCTGCCTGAGGTGGGGGTTCTGGATA AATGGGCAATATCACACGAGGGGCATGTTTGGCAATCCTTGCATGTCTTG AATGCCATGCTGAGGCAAGGGAACTTCTTTTTTTTTTTTTTTTGAGATGG AGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCA CTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACTATGTTAGCCAGGATGGTCTCCATC TCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAAGTGCTGGGATTA CAGGCATGAGCCACCGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(79): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02809.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03492.hp2 HG03704.hp1 HG06807.hp1 NA18942.hp2 NA18956.hp2 NA18964.hp1 NA18966.hp1 NA18979.hp2 NA18984.hp2 NA18998.hp1 NA19004.hp2 NA19009.hp2 NA19030.hp1 NA19060.hp1 NA19074.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0009 a0018 a0020	a0001c0001 a0001c0010 a0001c0022 others(5): Show a0001c0001 a0001c0010 a0001c0022 a0002c0003 a0006c0011 a0009c0020 a0018c0023 a0020c0024	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(20): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0047 a0001c0010t0002 a0001c0022t0002 a0002c0003t0021 a0002c0003t0036 a0006c0011t0008 a0006c0011t0030 a0009c0020t0002 a0018c0023t0002 a0020c0024t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 others(67): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0007g0035 a0001c0001t0007g0048 a0001c0001t0007g0050 a0001c0001t0007g0053 a0001c0001t0007g0068 a0001c0001t0007g0070 a0001c0001t0008g0084 a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0129 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0013g0135 a0001c0001t0017g0124 a0001c0001t0019g0075 a0001c0001t0024g0030 a0001c0001t0025g0076 a0001c0001t0026g0062 a0001c0001t0028g0086 a0001c0001t0029g0089 a0001c0001t0031g0090 a0001c0001t0047g0134 a0001c0010t0002g0031 a0001c0010t0002g0071 a0001c0022t0002g0056 a0002c0003t0021g0082 a0002c0003t0021g0083 a0002c0003t0036g0150 a0006c0011t0008g0088 a0006c0011t0030g0085 a0009c0020t0002g0055 a0018c0023t0002g0037 a0020c0024t0002g0069	82	352	0.2330	766	c.91+ others(781): Show c.91+5647_91+5648insGCGGTGGCTCATGCCTGTAATCCCAGCACT TTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATGGAGACCATC CTGGCTAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATCG CACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAA AAAAAAAAAAGAAGTTCCCTTGCCTCAGCATGGCATTCAAGACATGCAAG GATTGCCAAACATGCCCCTCGTGTGATATTGCCCATTTATCCAGAACCCC CACCTCAGGCAGAGCCTGCTCTGGTATGGTGCCCCTTCTCCCTCATTCCC GTGTTGACAGCCCCTCAGGGGTGGAGCCTGAGGGGTCTCGCCTATCAGAC ATGTTCCCCTTCCCATGCCCTTTTCTGCCTCTGCATCCAGCCTGTCTAAC CCCAGGGCAGCAGAAAGTCCTCCCAGTGCGACCACGCATTGCTGTTGCTC CTAGGGAAAGTATCTTGCCCTCTCTGAACTGTGGGGGCCTCCCTTGAAAA GCAGGAGATGGAGGCTGTATGATTTGCTGCCTTTGAGCCCCCAGGGGTTC AGCCCTAATGCATCTGAAGGGACAGGGTTGGGGGGATGGAGAGGAGGGTG CTGGGAGTGGGTCCAAGGAGGCAGTGGGCAGGTGGC	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17831079	A A	AGCCACCT others(759): Show AGCCACCTGCCCACTGCCTCCTTGGACCCACTCCCAGCACCCTCCTCTCC ATCCCCCCAACCCTGTCCCTTCAGATGCATTAGGGCTGAACCCCTGGGGG CTCAAAGGCAGCAAATCATACAGCCTCCATCTCCTGCTTTTCAAGGGAGG CCCCCACAGTTCAGAGAGGGCAAGATACTTTCCCTAGGAGCAACAGCAAT GCGTGGTCGCACTGGGAGGACTTTCTGCTGCCCTGGGGTTAGACAGGCTG GATGCAGAGGCAGAAAAGGGCATGGGAAGGGGAACATGTCTGATAGGCGA GACCCCTCAGGCTCCACCCCTGAGGGGCTGTCAACACGGGAATGAGGGAG AAGGGGCACCATACCAGAGCAGGCTCTGCCTGAGGTGGGGGTTCTGGATA AATGGGCAATATCACACGAGGGGCATGTTTGGCAATCCTTGCATGTCTTG AATGCCATGCTGAGGCAAGGGAACTTCTTTTTTTTTTTTTTTTGAGATGG AGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCA CTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACTATGTTAGCCAGGATGGTCTCCATC TCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAAGTGCTGGGATTA CAGGCATGAGCCACCGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG01934.hp1 others(22): Show HG01109.hp2 HG01891.hp1 HG01934.hp1 HG02109.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0015	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0005c0008 a0007c0009 a0015c0021	a0001c0001t0001 a0001c0001t0011 a0001c0001t0016 others(10): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0016 a0001c0001t0027 a0001c0001t0040 a0001c0001t0043 a0001c0001t0046 a0001c0002t0005 a0001c0002t0023 a0001c0004t0020 a0005c0008t0005 a0007c0009t0011 a0015c0021t0005	a0001c0001t0001g0144 a0001c0001t0011g0159 a0001c0001t0011g0172 others(21): Show a0001c0001t0001g0144 a0001c0001t0011g0159 a0001c0001t0011g0172 a0001c0001t0011g0173 a0001c0001t0016g0147 a0001c0001t0016g0148 a0001c0001t0016g0149 a0001c0001t0027g0081 a0001c0001t0040g0169 a0001c0001t0043g0174 a0001c0001t0046g0158 a0001c0002t0005g0016 a0001c0002t0005g0136 a0001c0002t0005g0138 a0001c0002t0005g0141 a0001c0002t0023g0142 a0001c0002t0023g0143 a0001c0004t0020g0079 a0001c0004t0020g0080 a0005c0008t0005g0137 a0005c0008t0005g0140 a0007c0009t0011g0145 a0007c0009t0011g0146 a0015c0021t0005g0139	25	352	0.0710	766	c.91+ others(781): Show c.91+5647_91+5648insGCGGTGGCTCATGCCTGTAATCCCAGCACT TTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATGGAGACCATC CTGGCTAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATCA CACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAA AAAAAAAAAAGAAGTTCCCTTGCCTCAGCATGGCATTCAAGACATGCAAG GATTGCCAAACATGCCCCTCGTGTGATATTGCCCATTTATCCAGAACCCC CACCTCAGGCAGAGCCTGCTCTGGTATGGTGCCCCTTCTCCCTCATTCCC GTGTTGACAGCCCCTCAGGGGTGGAGCCTGAGGGGTCTCGCCTATCAGAC ATGTTCCCCTTCCCATGCCCTTTTCTGCCTCTGCATCCAGCCTGTCTAAC CCCAGGGCAGCAGAAAGTCCTCCCAGTGCGACCACGCATTGCTGTTGCTC CTAGGGAAAGTATCTTGCCCTCTCTGAACTGTGGGGGCCTCCCTTGAAAA GCAGGAGATGGAGGCTGTATGATTTGCTGCCTTTGAGCCCCCAGGGGTTC AGCCCTAATGCATCTGAAGGGACAGGGTTGGGGGGATGGAGAGGAGGGTG CTGGGAGTGGGTCCAAGGAGGCAGTGGGCAGGTGGC	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17831079	A A	AGCCACCT others(759): Show AGCCACCTGCCCACTGCCTCCTTGGACCCACTCCCAGCACCCTCCTCTCC ATCCCCCCAACCCTGTCCCTTCAGATGCATTAGGGCTGAACCCCTGGGGG CTCAAAGGCAGCAAATCATACAGCCTCCATCTCCTGCTTTTCAAGGGAGG CCCCCACAGTTCAGAGAGGGCAAGATACTTTCCCTAGGAGCAACAGCAAT GCGTGGTCGCACTGGGAGGACTTTCTGCTGCCCTGGGGTTAGACAGGCTG GATGCAGAGGCAGAAAAGGGCATGGGAAGGGGAACATGTCTGATAGGTGA GACCCCTCAGGCTCCACCCCTGAGGGGCTGTCAACACGGGAATGAGGGAG AAGGGGCACCATACCAGAGCAGGCTCTGCCTGAGGTGGGGGTTCTGGATA AATGGGCAATATCACACGAGGGGCATGTTTGGCAATCCTTGCATGTCTTG AATGCCATGCTGAGGCAAGGGAACTTCTTTTTTTTTTTTTTTTGAGATGG AGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCA CTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACTATGTTAGCCAGGATGGTCTCCATC TCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAAGTGCTGGGATTA CAGGCATGAGCCACCGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0290 a0002c0003t0034g0290	1	352	0.0028	766	c.91+ others(781): Show c.91+5647_91+5648insGCGGTGGCTCATGCCTGTAATCCCAGCACT TTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATGGAGACCATC CTGGCTAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATCG CACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAA AAAAAAAAAAGAAGTTCCCTTGCCTCAGCATGGCATTCAAGACATGCAAG GATTGCCAAACATGCCCCTCGTGTGATATTGCCCATTTATCCAGAACCCC CACCTCAGGCAGAGCCTGCTCTGGTATGGTGCCCCTTCTCCCTCATTCCC GTGTTGACAGCCCCTCAGGGGTGGAGCCTGAGGGGTCTCACCTATCAGAC ATGTTCCCCTTCCCATGCCCTTTTCTGCCTCTGCATCCAGCCTGTCTAAC CCCAGGGCAGCAGAAAGTCCTCCCAGTGCGACCACGCATTGCTGTTGCTC CTAGGGAAAGTATCTTGCCCTCTCTGAACTGTGGGGGCCTCCCTTGAAAA GCAGGAGATGGAGGCTGTATGATTTGCTGCCTTTGAGCCCCCAGGGGTTC AGCCCTAATGCATCTGAAGGGACAGGGTTGGGGGGATGGAGAGGAGGGTG CTGGGAGTGGGTCCAAGGAGGCAGTGGGCAGGTGGC	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(759): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATATAATACACATTA TATATTATATATAATACACATTATATATTATATAATACACATTATATATT ATATATAATACACATTATATATATAATACACATTATATATTATATATAAT ACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02615.hp1 HG03710.hp1 others(1): Show HG02080.hp2 HG02615.hp1 HG03710.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0053 a0001c0001t0001g0166 a0001c0001t0001g0203 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0166 a0001c0001t0001g0203 a0001c0001t0003g0057	4	360	0.0111	766	c.62 others(777): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATATAATATATAATGTGTATTATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATATTATATATAATGTGTATTATATAATATATAATGTGTATTATA TATTTTAGATATATATAATGTATAATATGTATATAATATATAATATATAA TATGTATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATTATATATAATATATAATACATAT AATATGTATATTATATATATAATATATAATATATAATACATATAATATGT ATATTATATATATAATATATAATATATAATACATATAATATGCATATTAT ATATAATATATTATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(759): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATATA ATACACATTATATATTATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATATAATACACATTA TATATTATATATAATACACATTATATATTATATAATACACATTATATATT ATATATAATACACATTATATATATAATACACATTATATATTATATATAAT ACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG02145.hp2 others(15): Show HG00609.hp2 HG00639.hp1 HG02145.hp2 NA18945.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp1 NA18987.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp2 NA19001.hp1 NA19007.hp2 NA19065.hp1 NA19085.hp1 NA19086.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0001c0003 a0003c0012 others(1): Show a0001c0001 a0001c0003 a0003c0012 a0012c0015	a0001c0001t0001 a0001c0001t0011 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0003t0002 a0003c0012t0002 a0012c0015t0002	a0001c0001t0001g0043 a0001c0001t0011g0125 a0001c0003t0002g0010 others(13): Show a0001c0001t0001g0043 a0001c0001t0011g0125 a0001c0003t0002g0010 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0201 a0001c0003t0002g0204 a0001c0003t0002g0207 a0001c0003t0002g0225 a0003c0012t0002g0234 a0012c0015t0002g0187	18	360	0.0500	766	c.62 others(777): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATATTATATATAATGTGTATTATATAATATATAATGTGTATTATA TATTTTAGATATATATAATGTATAATATGTATATAATATATAATATATAA TATGTATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATTATATATAATATATAATACATAT AATATGTATATTATATATATAATATATAATATATAATACATATAATATGT ATATTATATATATAATATATAATATATAATACATATAATATGCATATTAT ATATAATATATTATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(759): Show CTATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATATA ATACACATTATATATTATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATATAATACACATTA TATATTATATATAATACACATTATATATTATATAATACACATTATATATT ATATATAATACACATTATATATATAATACACATTATATATTATATATAAT ACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18962.hp2 NA18992.hp1 NA18954.hp1 NA18962.hp2 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0022 a0001c0003t0002g0206 a0001c0003t0002g0022 a0001c0003t0002g0206	3	360	0.0083	766	c.62 others(777): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATATTATATATAATGTGTATTATATAATATATAATGTGTATTATA TATTTTAGATATATATAATGTATAATATGTATATAATATATAATATATAA TATGTATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATTATATATAATATATAATACATAT AATATGTATATTATATATATAATATATAATATATAATACATATAATATGT ATATTATATATATAATATATAATATATAATACATATAATATGCATATTAT ATATAATATATTATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
THEG_chr19_356747_381026	377288	C C	CCGTGCCC others(759): Show CCGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCC CCCCCCGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCT CCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCC AGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCC TGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCC TCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCC ACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0254 a0004c0005t0004g0254	1	370	0.0027	766	c.-13 others(777): Show c.-1319_-1318insAGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGT GGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAG GCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGAGGCACGGGGG GGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCA CACAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGAG GCACGGGGGGGGAGAGGCTGGGTGGGGGCACG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1263		chr19	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(759): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	766	c.28 others(777): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(759): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	272	0.0037	766	c.28 others(777): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(759): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATATAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATACATAAAAATTATATATATATTATATATATATA AAAATTATATATATATAATATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	766	c.29 others(777): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATATAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATACATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATAATATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(759): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATAATA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02273.hp1 HG01943.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	272	0.0074	766	c.29 others(777): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATAATATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(759): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATAATA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA TAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	272	0.0037	766	c.29 others(777): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATAATATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATATAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238871160	A A	ACCCCACA others(759): Show ACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACACC ACACACACATCACATACCACACACACATCACATACCACACACAAACCACA CACCACACACACACCACACACCCCACACACACATCACATACCACACACAA ACCACACACCCAACACACACATCACACACCACACACCCCACACACACATC ACATACCACACACAAACCACACACCCTACACACACCACACACCCCACACA CACATCACACACCACACACACCACACACACCCCACACACACCACACACAC ACATCACATACCACACACCCGACACACGCCACACACACACCACACACCCC ACGCACACATCACATACCACACACAAACCACACACCCTACACACACCACA CACCCCACACACACCACACACACACACCACACACACATCACATACCACAC ACAAACCACACACCCCCACACACCCCACACACCCCACACACACCACACAC CCCACACACACACCACACACCCCACACACACATCACATACCACACACAAA CCACACACCCCACACACCCCACACACCACACACACACCACACACACATCA CATACCACACACAAACCACACACCCTACACGCACCACACACCCCACACAC ACCACACACCCGACACACGCCACACACACACCACACACCCCACGCACACA TCACATACCACACACAAACCACACACCCTACACACCCCACACACCCCACA CACACCACACACCACAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	338	0.0030	766	c.35 others(785): Show c.35+22439_*35+22440insCACACAAACCACACACCCTACACACC CCACACACACCACACACACATCACATACCACACACACATCACATACCACA CACAAACCACACACCACACACACACCACACACCCCACACACACATCACAT ACCACACACAAACCACACACCCAACACACACATCACACACCACACACCCC ACACACACATCACATACCACACACAAACCACACACCCTACACACACCACA CACCCCACACACACATCACACACCACACACACCACACACACCCCACACAC ACCACACACACACATCACATACCACACACCCGACACACGCCACACACACA CCACACACCCCACGCACACATCACATACCACACACAAACCACACACCCTA CACACACCACACACCCCACACACACCACACACACACACCACACACACATC ACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCACAC ACACCACACACCCCACACACACACCACACACCCCACACACACATCACATA CCACACACAAACCACACACCCCACACACCCCACACACCACACACACACCA CACACACATCACATACCACACACAAACCACACACCCTACACGCACCACAC ACCCCACACACACCACACACCCGACACACGCCACACACACACCACACACC CCACGCACACATCACATACCACACACAAACCACACACCCTACACACCCCA CACACCCCACACACACCACACACCACACCCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(759): Show TAATAATATAATATATATTATTATATATAATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATAATAATAT ATATATATTATTATATATAATTATATATAATAATATAATATATATTATTA TATATAATTATATATAATAATATAAATATATTATTATATATTATTATATA TAATAATATAATATATATTATATATTATTATATATAATAATATAATATAT ATTATATATTATTATATATAATAATATAATATATATTATATATTATTATA TATAATAATATAATATATATTATTATATATTATTATATATAATAATATAA TATATATTATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAATATATATTATTATATATAATAATATAATATATATTA TTATATATTATTATATATAATAATATAATATATATTATTATATATAATAA TATAATATATATTATTATATATTATTATATATAATAATATAATATATATT ATTATATATTATTATATATAATAATATAATATATATTATTATATATTATT ATATATAATAATATAATATATATTATTATATATAATAATATAATATATAT TATTATATATTATTATATATAATAATATAATATATATTATTATATATTAT TATATATAATAATATAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	238	0.0042	766	c.392 others(783): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATTATTATATATAATAATATATAATAATATATATTATATTATTATATAT AATAATATATATTATATTATTATATATAATAATATATAATAATATATATT ATATTATTATATATAATAATATATATTATATTATTATATATAATAATATA TAATAATATATATTATATTATTATATATAATAATATATATTATATTATTA TATATAATAATATATAATAATATATATTATATTATTATATATAATAATAT ATAATATATATTATATTATTATATATAATAATATATAATATATATTATAT TATTATATATAATAATATATAATATATATTATATTATTATATATAATAAT ATATAATAATATATTTATATTATTATATATAATTATATATAATAATATAT ATTATATTATTATATATAATTATATATAATAATATATATATATTATTATT ATATATAATAATATATATTATATTATTATATATAATTATATATAATAATA TATATTATATTATTATATATAATTATATATAATAATATATATTATATTAT TATATATAATTATATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(759): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATTATATATAATATATATTATATATAATATATAATATATAATATATATTA TATATAATAATATAATATATAATATACATTATATAATAATATAATATATA ATATACATTATATAATAATATAATGTATATTATATAATAATAATGTAATA TATAACATATATTATATAATAATAATATAATATATATTATATAATTAATA TAATATATAATATATATTATATAATAATAATATAAGATATATTATATAAT TAATATAATATATAATATATATTATATAATTAATATAATATATAATATAT ATTATATAATTAATATAATATATATAATAATTATATAATATAGTATATAA TATATATTATATAATAATAATATAATATATATAATAATTATATAATATTA GAATATATATTATACAATAATAATATAATATATATTATACAATAATAATA TAATATATATATAATTATATAATATAATATATATAATAATAATATAATAT AATATATAATATATATTATATAATAATATAATATAATATATAATATATAT TATATAATAATATAATATATAATATATATTATATAATAATATAATATATA ATATATATTATATAATAATATAATATAATATATAATATATATTATATAAT AATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	218	0.0092	766	c.55+ others(781): Show c.55+2822_55+2823insATATTATATATTATATTATTATATAATATA TATTATATATTATATTATATTATTATATAATATATATTATATATTATATT ATTATATAATATATATTATATATTATATTATTATATAATATATATTATAT ATTATATTATATTATTATATAATATATATTATATATTATATTATATTATT ATTATATATATTATATTATATAATTATATATATATTATATTATTATTGTA TAATATATATTATATTATTATTGTATAATATATATTCTAATATTATATAA TTATTATATATATTATATTATTATTATATAATATATATTATATACTATAT TATATAATTATTATATATATTATATTAATTATATAATATATATTATATAT TATATTAATTATATAATATATATTATATATTATATTAATTATATAATATA TCTTATATTATTATTATATAATATATATTATATATTATATTAATTATATA ATATATATTATATTATTATTATATAATATATGTTATATATTACATTATTA TTATATAATATACATTATATTATTATATAATGTATATTATATATTATATT ATTATATAATGTATATTATATATTATATTATTATATATAATATATATTAT ATATTATATATTATATATAATATATATTATATATAATATATTATATATAA TATATATTATATATTATATATTATATTATATAATTATTATATATTGCATT ATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(759): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGTGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGG AGGGAGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGA GAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGAGGG AGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAGGGGAGGGAAGGGGAGGG AGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAG CGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGGAGG GAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGA GGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGG GGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGG AGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAA GGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAA AGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	290	0.0035	766	c.205 others(785): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTCA CTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCTCCCTCCCCT TCCCTCCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTC CCCTCCCCTCCCTCCCTTCCCTCCCTCCCTCCCCTCACTTCTCTCCCTCC CTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCTCCCTCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTCCCTTCCCTCCCCTCCCTCCCCTCCCTC CCCTTCCCTCCACTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCT CCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTC ACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCAC TTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(759): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATATGATATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCAT ACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATAT GCTATATATCACATGTGATATATATGCTATATATCACATGTGATATATAT GCTATATATCACATGTGATATATATGCTATATATCACATGTGATATATAT GCTATATATCACATGTGATATATATGCTATATATCACATGTGATATATAT GCTATATATCACATGTGATATATATGCTATATATCACATGTGATATATAT GCTATATATCACATGTGATATATATGCTATATATCACATATATCACATGT GATATATAGCATATGTGATATATATGATATATGTGATATATATCATATGT GATATATATGATATATATCACATATATATGATATATATCACATATATATC ATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	350	0.0029	766	c.-34 others(777): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCACATATCACATATCATATGATATATATCACATGTGATATATAGCA TATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGATA TATATCATATATATCACATATGATATATAGCATATGTGATATATATCATA TATATCACATATGCTATATAGCATATGTGATATATATCATATATATCACA TATGCTATATAGCATACGTGATATATATCATATATATCATATATGATGTA TAGCATGATATATATGCTATATATCACATGTGATATATATGCTATATATC ACATGTGATATATATGCTATATATCACATGTGATATATATGCTATATATC ACATGTGATATATATGCTATATATCACATGTGATATATATGCTATATATC ACATGTGATATATATGCTATATATCACATGTGATATATATGCTATATATC ACATGTGATATATATGCTATATATCACATGTGATATATATGCTATATATC ACATATATCACATGTGATATATAGCATATGTGATATATATGATATATGTG ATATATATCATATGTGATATATATGATATATATCACATATATATGATATA TATCACATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838786	C C	CCCCCCCA others(760): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGGGCCGACCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGTACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGGCAGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	336	0.0030	767	c.361 others(786): Show c.3614+2502_3614+2503insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGGCCGACCCC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGAC AGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCTACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGTGGGGGTACTGACCCCCCCATCTCCCTCCCGGAC GGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAACCCCCC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(760): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCCACCCATCAATTCAC CCGTCCACTCATCCATCCACCCCACCCATTCATCCATTCACCACCCATTC ATCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCAC CCATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTC ATCCATTCACCCATCCATCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCACTCATCCATCCACCCATCCATTCAT CCATTCACCCACCCATTCATCCATCACCCATCCATTCATCCATTCGCCCA CCCATTCATCCATCCACCCATCCATTCATCCATTCACCCATCCATTCATC CATTCACCCATCCATTCATCCATCCACCCATCCATTCATCCATTCACCCA CCCACTCATCCATCCACACCATCCATTCGCCCACCCATTTCCTACCATTA ATTCACCCACCCTTCCACCACCCACCCACCCATCCATATCCCACCCACCC ATTCACCCATCCATTCATCCATCCACCACACCCACACCATTCACCCACCC ACCCAGCCATCTCACCCATTCACCATCCACTCATCCATTCACCTATCCAC CCACCCCATCCACTCATC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0015 a0015	a0015c0063 a0015c0063	a0015c0063t0088 a0015c0063t0088	a0015c0063t0088g0228 a0015c0063t0088g0228	1	262	0.0038	767	c.775 others(782): Show c.775-337_775-336insGATGAGTGGATGGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAAT GGTGTGGGTGTGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGTAGGAA ATGGGTGGGCGAATGGATGGTGTGGATGGATGAGTGGGTGGGTGAATGGA TGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGATGAATGGATG GGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGCGAATGGA TGAATGGATGGGTGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAGTGGTGGGTGAATGGATGAATGGATGGGTGGATGGATG AATGGGTGGGTGAATGGATGATGGATGGGTGAATGGATGAATGGATGGGT GGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGA ATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGTG AATGGATGAATGGGTGGGGTGGATGGATGAGTGGACGGGTGAATTGATGG GTGGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGGT GAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGA GTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AGXT_chr2_240863824_240885500	240872327	G G	GAGGAGGG others(760): Show GAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCG TGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAA CATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGG TGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACAT GCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAG TTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAG GAGGGTGAGAGTTCGTGAACATGGAGGCGGAGTGTGAGAGTTCGTGAACA TGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTG AGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGTGAACATGCAGGA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTG AACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGAT GAGAGTTCGTGAACATGC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	444	0.0023	767	c.525 others(782): Show c.525-646_525-645insGTGAGAGTTCGTGAACATGCAGGAGGAGGA GGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGT GAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGC AGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGA GGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAG AGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGG AGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAA CATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGTGTGA GAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCG TGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG GTGAGAGTTCGTGAACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGA GGCGGAGGAGGATGAGAGTTCGTGAACATGCAGGAGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGXT_chr2_240863824_240885500	240872327	G G	GAGGAGGG others(760): Show GAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCG TGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAA CATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGG TGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGG GTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTC GTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGGAG GGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAGAGTTCGTGAACA TGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTG AGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGTGAACATGCAGGA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTG AACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGAT GAGAGTTCGTGAACATGC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	444	0.0023	767	c.525 others(782): Show c.525-646_525-645insGTGAGAGTTCGTGAACATGCAGGAGGAGGA GGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGT GAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGC AGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGA GGAGGGTGAGAGTTCGTGAACATGCAGGAGGGTGAGAGTTCGTGAACATG CAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGG AGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACAT GTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGA GAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCG TGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG GTGAGAGTTCGTGAACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGA GGCGGAGGAGGATGAGAGTTCGTGAACATGCAGGAGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(760): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0087 a0001c0001t0005g0087	1	268	0.0037	767	c.136 others(784): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGTGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(760): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	268	0.0037	767	c.136 others(784): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGTGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(760): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	268	0.0037	767	c.136 others(784): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(760): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00642.hp1 others(15): Show HG00280.hp2 HG00323.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG02622.hp2 HG02970.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG04204.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019	a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0050 others(15): Show a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0094 a0001c0001t0003g0102 a0001c0001t0005g0019 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0103 a0001c0001t0007g0039 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0105 a0001c0001t0019g0020	18	268	0.0672	767	c.136 others(784): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGTGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(760): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(1): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120	4	268	0.0149	767	c.136 others(784): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(760): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00673.hp1 others(29): Show HG00423.hp1 HG00609.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01106.hp1 HG01192.hp1 HG01257.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02129.hp1 HG02165.hp1 HG03017.hp1 HG03927.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18950.hp2 NA18970.hp2 NA18971.hp2 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19066.hp1 NA19088.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0014 a0001c0001 a0001c0002 a0004c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 a0004c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(29): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0263 a0001c0001t0003g0040 a0001c0001t0013g0063 a0001c0001t0015g0066 a0001c0001t0017g0069 a0001c0002t0001g0071 a0004c0014t0001g0262	32	268	0.1194	767	c.136 others(784): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGTGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(760): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAATGGGCGGGAAATT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	268	0.0037	767	c.136 others(784): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGTGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAATGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	965181	C C	CGGGAAAT others(760): Show CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGG TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCC CAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGG AAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGA AATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAA CGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAA AGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTG GAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGAT GGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATA ATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTA AAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGC GGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCAT GGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGT GGAAAGCATGGAACGGGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 HG03579.hp2 HG02886.hp1 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0227 a0001c0002t0004g0254 a0001c0002t0004g0255 a0001c0002t0004g0227 a0001c0002t0004g0254 a0001c0002t0004g0255	3	268	0.0112	767	c.137 others(784): Show c.137-4949_137-4948insATGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGG TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCC CAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGG AAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGA AATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAA CGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAA AGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTG GAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGAT GGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATA ATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTA AAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGT GGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	965240	C C	CGGGAAAT others(760): Show CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGG TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCC CAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGG AAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGA AATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAA CGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAA AGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTG GAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGAT GGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATA ATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTA AAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGC GGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCAT GGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGT GGAAAGCATGGAACGGGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19060.hp1 NA18952.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0077 a0001c0001t0001g0079	2	268	0.0075	767	c.137 others(784): Show c.137-4882_137-4881insCATGGAACGGGCGGGAAATTAAAGGAAA TAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGTGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARFRP1_chr20_63693647_63712976	63693732	T T	TCCACCTT others(760): Show TCCACCTTCACCCACCACCACCTCCACCACCACCTCCACCACCTCCACCT CCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCTCC ACCACCACCACCACCACCACCTCCACCACCTCCACCTCCACCACCACCTC CACCTTCACCACCACCACCACCACCTCCACCACCACCACCACCACCACCA CCACCTCCACCACCACCACCACCTCCACCTTCACCACCACCACCACCACC TCCACCACCACCACCACCACCACCTCCACCTTCACCACCACCTCCACCTC CACCACCACCTCCACCTCCACCACCACCACCACCACCACCACCACCACCA CCTCCACCTCCACCACCACCACCACCTCCACCTTCACCACCACCACCACC ACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCACCACCACCTC CACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCT CCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCTCC ACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCAC CTCCACCACCTCCACCACCACCACCACCACCTCCACCACCTCCACCTCCA CCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCACCTCC ACCACCACCTCCACCACCTCCACCACCCACCTCCACCACCACCTCCACCA CCACCTCCTCCACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	296	0.0034	767	c.67 others(778): Show c.6710_*6711insTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGT GGAGGTGGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTG GTGGAGGTGGAGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGAGGTGGT GGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGG AGGTGGAGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTG GTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGAGGTGGTGGT GGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGG TGGTGGTGGAGGTGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGTG AAGGTGGAGGTGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGAGGTGGAGGTGGTGG TGAAGGTGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGAAGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGAAGGTGGAGGTGGTGGTGGAGG TGGAGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGTGGA GGTGGTGGTGGAGGTGGTGGTGGGTGAAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4914		chr20	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(760): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0164 a0001c0002t0009g0164	1	292	0.0034	767	c.207 others(788): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGG GGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGG GGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(760): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGACACCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0167 a0001c0002t0010g0167	1	292	0.0034	767	c.207 others(788): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGA CACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGG GGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGG GGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(760): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATGGG AGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGAGAGCT GGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCT CTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTAC GGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAG AGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGA GCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAG GTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTG GAGAGCTGGGGTGCGAGGGTGCAGACGTACGGAGGGAATGGCGGATGGGT GAGCGTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	434	0.0023	767	c.513 others(782): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCG GATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGAGAGCTGGGGTGC GAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCG CCTGTGGGGGTGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGA ATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGG TGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGA GCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGA GGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCT GGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGT CTGAGCGCCTGTGGGGGTGGAGAGCTGGGGTGCGAGGGTGCAGACGTACG GAGGGAATGGCGGATGGGTGAGCGTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar

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