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
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(413): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATG TATGTATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATG CAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACAT ACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTATACT GTATATATACACTATACAGTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0254 a0001c0007t0001g0254	1	118	0.0085	420	c.-75 others(439): Show c.-75+17711_-75+17712insTACTGTATAGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTA TACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATAC ACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACATACAGTATACATACATAC AGTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTACA CAGTATACATGCTGTACACAGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(413): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATG CAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACAT ACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTATACT GTATATATACACTATACAGTA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0118 a0001c0002t0003g0118	1	118	0.0085	420	c.-75 others(439): Show c.-75+17711_-75+17712insTACTGTATAGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTA TACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATAC ACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACATACAGTATACATACATACAGTATACATACATACAGTATACATGC TGTACACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP4_chr19_55831540_55886855	55850252	A A	AGGCTGCG others(413): Show AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCG AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0215 a0002c0003t0003g0215	1	381	0.0026	420	c.-65 others(437): Show c.-65-1750_-65-1749insGTCCGAGGCTGCGGTGTAATGTCCGAGG CTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTA ATGTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATGTCCGAGG CTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTA ATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGG CTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTA CTTCCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGG CTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTA ATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(413): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	420	c.91+ others(433): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(413): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0015 a0004c0005t0004g0015	1	8	0.1250	420	c.175 others(441): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108163992	G G	GGGGTAAT others(413): Show GGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGA GAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGT GGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC TGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGA GAGGTCATACCAGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGG TGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATA CTGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTG AGAGGTCATACTGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03927.hp2 HG03834.hp1 HG03927.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0009 a0001c0014t0009	a0001c0014t0009g0066 a0001c0014t0009g0191 a0001c0014t0009g0066 a0001c0014t0009g0191	2	189	0.0106	420	c.346 others(439): Show c.3466+2928_3466+2929insACCCCACCCAGTATGACCTCTCACTA CCCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCAGTATGA CCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCA CCCGGTATGACCTCTCATTACCGCCACCCCACCTGGTATGACCTCTCACT ACCCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCAGTATG ACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCC ACCCAGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACT ACCCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(413): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAA GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAG AGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAG GGAGAAGGAGAGGGAGAAGGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA20805.hp2 HG01169.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0261 a0001c0001t0002g0093 a0001c0001t0002g0261	2	247	0.0081	420	c.-12 others(437): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197877	G G	GGGAGAAG others(413): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAAGGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	285	0.0035	420	c.-12 others(437): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
PALD1_chr10_70473767_70573450	70554949	T T	TCCCCTCC others(413): Show TCCCCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCT TCCCCCTCCTCCCCCTCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCC CTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCC CCCTCCTTCCCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCC CTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCC TCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACT CCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCC ACTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0002 a0011c0017t0002	a0011c0017t0002g0300 a0011c0017t0002g0300	1	292	0.0034	420	c.226 others(439): Show c.2262+7505_2262+7506insCCTCCCCCTCCTCCCCCTCCCTTCCC CCTCCTCCCCCTCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCTTCCC CCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCC CTCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCC CTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCC CTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCC ACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCBP3_chr21_45638725_45947450	45902253	A A	ACTGCAGA others(413): Show ACTGCAGACACTGGGGCCAGTGTTCCCCTATCGTAGGTGGCCTGGCCTCC AAGGCTGGACGCTGCAGACACTGGGGCCAGTGTTCCCCTATCGTAGGTGG CCTGGCCTCCAAGGCTGGATGCTGCAGACACTGGGGCCAGTGTTCCCCTA TCGTAGGTGGCCTGGCCTCCAAGGCTGGACGCTGCAGACACTGGGGCCAG TGTTCCCCTATCGTAGGTGGCCTGGCCTCCAAGGCTGGATGCTGCAGACA CTGGGGCCAGTGTTCCCCTATCGTAGGTGGCCTGGCCTCCAAGTCTGGAC GCTGCAGACACTGGGGCCAGTGTTCCCCTATCGTAGGTGGCCTGGCCTCC AAGGCTGGACGCTGCAGACACTGGGGCCAGTGTTCCCCTATCGTAGGTGG CCTGGCCTCCAAGGCTGGATG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0216 a0001c0001t0022g0216	1	25	0.0400	420	c.339 others(437): Show c.339+1246_339+1247insTCCAAGGCTGGATGCTGCAGACACTGGG GCCAGTGTTCCCCTATCGTAGGTGGCCTGGCCTCCAAGGCTGGACGCTGC AGACACTGGGGCCAGTGTTCCCCTATCGTAGGTGGCCTGGCCTCCAAGGC TGGATGCTGCAGACACTGGGGCCAGTGTTCCCCTATCGTAGGTGGCCTGG CCTCCAAGTCTGGACGCTGCAGACACTGGGGCCAGTGTTCCCCTATCGTA GGTGGCCTGGCCTCCAAGGCTGGACGCTGCAGACACTGGGGCCAGTGTTC CCCTATCGTAGGTGGCCTGGCCTCCAAGGCTGGATGCTGCAGACACTGGG GCCAGTGTTCCCCTATCGTAGGTGGCCTGGCCTCCAAGGCTGGACGCTGC AGACACTGGGGCCAGTGTTCCCCTATCGTAGGTGGCCTGGCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45910134	C C	CGCCCACT others(413): Show CGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATAC AGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCC AGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACA CACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGG CCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGA CCCCCCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGAT ACGGACCCCCCCCCACCCACTGCCCAGATATGGACCTGGCCACCTACTGC CCAGATACGGACCCCCCGCCA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	258	0.0039	420	c.471 others(435): Show c.471+648_471+649insGCCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGG CCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGA CCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAG ATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGC TTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCC ACCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATATGGACCC CCCCCACCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATAT GGACCTGGCCACCTACTGCCCAGATACGGACCCCCCGCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(413): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGAT AGATAGATAGATGTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 NA19240.hp2 HG02055.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	183	0.0109	420	c.-26 others(431): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATACATCTATCTATCTATCGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATATGTC TATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(413): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	420	c.-26 others(431): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCGF3_chr4_700832_775089	725678	C C	CGCTGTGG others(413): Show CGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGG CTGTGTGGGCTGCAGAGGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGG GCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGA GGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCT GTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTC TGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGT GGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGT GGGCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCC GAGGGCTGCTGTGGGCTCTGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0042 a0001c0001t0051g0042	1	299	0.0033	420	c.-18 others(439): Show c.-189-4911_-189-4910insCGCTGTGGCTGTGTGGGCTGCAGAGG GCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGT GGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTG CGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGG CTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGG GCTGCCGAGGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGA GGGCTGCTGTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCT GTGGGCTCTGCGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTC TGTGCTGTGGCTGTGTGGGCTGCCGAGGGCTGCTGTGGGCTCTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNT_chr21_46319156_46450769	46413142	A A	ACCCGGGA others(413): Show ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGA GGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCC ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCGCGAGGTCCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0060 a0060	a0060c0048 a0060c0048	a0060c0048t0001 a0060c0048t0001	a0060c0048t0001g0185 a0060c0048t0001g0185	1	66	0.0152	420	c.615 others(437): Show c.6150+200_6150+201insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCC CACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAG GCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGG AGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCA AGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFC_chr4_156755454_156976799	156825575	T T	TGAAGAAG others(413): Show TGAAGAAGAAGAAGAAGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGA AGGAGAAGAAGGAGAAGAAGGAGAAGGAGAAGAAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGGAGAA GAAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0173 a0001c0001t0009g0173	1	193	0.0052	420	c.315 others(439): Show c.315-14559_315-14558insCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTCCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTC TCCTTCTTCTCCTTCTTCTCCTTCTTCTCTTCTTCTTCTTCTTC	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(413): Show CAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAATGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAA AAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	202	0.0050	420	c.20- others(435): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTCTTTT CTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCATTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(413): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0213 a0002c0018t0001g0213	1	57	0.0175	420	c.25 others(431): Show c.2520_*2521insAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGG GTCAGGGCCCGGGGAAGGGGGGCTCTCGGGCATGAGTGGGGGTCAGGGCC CGGGGAAGGGGGGCTCTCGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTC AGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(413): Show AATTATATAATTATATATATAATTATATAATTATATATTATTTATTATAT AATATATAATTATATAATTATATATTATTTATTATATAATATATAATTAT ATAATTATATATTATTTATTATATAATTATATATTATTTATTATATAATA TATAATTATATATTATTTATTATATAATATATAATTATATATTATTTATT ATATAATTATATATTATGTATTATATAATATATAATTATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATAATTATA TATTATTTATTACATAATTATATATTATTTATTACATAAGTATATATCAC TTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATTAT TTATTATATAATTGTATATAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0013 a0004c0013t0001g0013	1	83	0.0120	420	c.862 others(437): Show c.862+3416_862+3417insATTATATAATTATATATATAATTATATA ATTATATATTATTTATTATATAATATATAATTATATAATTATATATTATT TATTATATAATATATAATTATATAATTATATATTATTTATTATATAATTA TATATTATTTATTATATAATATATAATTATATATTATTTATTATATAATA TATAATTATATATTATTTATTATATAATTATATATTATGTATTATATAAT ATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTA TTATATAATTATATAATTATATATTATTTATTACATAATTATATATTATT TATTACATAAGTATATATCACTTATTATATAATTGTATATAATTATTTAT TATATAATTGCATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGAGGGGG others(413): Show GGAGGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGG AGGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAG GGGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGC AGGGGAGCGGCGGGCAGGGGAGTGGCGGGCGGGGCGGGGAGGAGGGGAGG GAGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGC AGCGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAG GGGCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGA GAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGA GAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	273	0.0037	420	c.-26 others(429): Show c.-269_-268insTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCC TCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCTTC CTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCC GCCCCGCCCGCCACTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCGT CCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCC CTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGC CGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCCTC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		202		chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937114	A A	ACAACACC others(413): Show ACAACACCCCCACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAAC CCCACATGCCACAACACCCCCACAATCGACCCCAAATGCGCCATCACCCC CGCAATCAACCCCACATGCCACAACACCCCCGCAATCGACCCCAAATGCG CCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCGAC CCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAACACCCC CACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCC ACAACACCCCCGCAATCGACCCCAAATGTGCCATCACCCCCGCAATCAAC CCCACATGCCCCAACACCCCCGCAATCGACCCCAAATGTGCCATCACCCC CGCAATCAACCCCACATGCCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18962.hp2 HG02056.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	2	363	0.0055	420	c.226 others(435): Show c.226-655_226-654insGGGCATGTGGGGTTGATTGCGGGGGTGATG GCACATTTGGGGTCGATTGCGGGGGTGTTGGGGCATGTGGGGTTGATTGC GGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGG GGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGTGTTG TGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGC GGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGG GGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATG GCGCATTTGGGGTCGATTGTGGGGGTGTTGTGGCATGTGGGGTTGATTGC GGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGTGTTG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(413): Show AGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0291 a0001c0002t0011g0291	1	210	0.0048	420	c.227 others(437): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3162937	G G	GCGCAGAA others(413): Show GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAA GCCCCTAGCTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCT GGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGG CTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCT AGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAG AGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp1 HG02976.hp2 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0055 a0001c0008t0085 a0001c0004t0055 a0001c0008t0085	a0001c0004t0055g0004 a0001c0008t0085g0003 a0001c0004t0055g0004 a0001c0008t0085g0003	2	174	0.0115	420	c.38- others(437): Show c.38-23141_38-23140insGCGCAGAAGCCCCCGGCTCTAGAGGGCT TTGGGAGAGGGGATGTGCGCAGAAGCCCCTAGCTCTAGAGGGCTTTGGGA GAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGA GGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGAT GTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGT GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCC GCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGC AGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAG AAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3162937	G G	GCGCAGAA others(413): Show GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAA GCCCCTGGCTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCT GGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGG CTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCT AGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAG AGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01081.hp1 others(21): Show HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG02145.hp1 HG02273.hp1 HG02280.hp2 HG02622.hp1 HG02723.hp2 HG02738.hp1 HG02970.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03710.hp1 HG03831.hp1 HG06807.hp1 NA18906.hp2 NA18950.hp2 NA18966.hp1 NA19079.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0013 a0001c0026 a0001c0029 a0002c0003 a0002c0007 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0001c0001t0056 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0029 a0001c0006t0011 a0001c0006t0024 a0001c0008t0002 a0001c0009t0067 a0001c0013t0041 a0001c0026t0001 a0001c0029t0065 a0002c0003t0001 a0002c0007t0024 a0003c0005t0001	a0001c0001t0001g0055 a0001c0001t0001g0125 a0001c0001t0001g0165 others(21): Show a0001c0001t0001g0055 a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0003g0168 a0001c0001t0022g0040 a0001c0001t0056g0204 a0001c0002t0001g0121 a0001c0002t0002g0180 a0001c0002t0003g0120 a0001c0002t0017g0202 a0001c0004t0004g0051 a0001c0004t0007g0038 a0001c0004t0010g0034 a0001c0004t0029g0044 a0001c0006t0011g0039 a0001c0006t0024g0026 a0001c0008t0002g0059 a0001c0009t0067g0145 a0001c0013t0041g0025 a0001c0026t0001g0160 a0001c0029t0065g0131 a0002c0003t0001g0142 a0002c0007t0024g0070 a0003c0005t0001g0171	24	196	0.1224	420	c.38- others(437): Show c.38-23141_38-23140insGCGCAGAAGCCCCCGGCTCTAGAGGGCT TTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCTCTAGAGGGCTTTGGGA GAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGA GGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGAT GTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGT GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCC GCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGC AGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAG AAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3162937	G G	GCGCAGAA others(413): Show GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAA GCCCCTGGCTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCT GGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGG CTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCT AGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAG AGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0097 a0001c0001t0008g0097	1	173	0.0058	420	c.38- others(437): Show c.38-23141_38-23140insGCGCAGAAGCCCCCGGCTCTAGAGGGCT TTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCTCTAGAGGGCTTTGGGA GAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGA GGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGAT GTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGT GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGC AGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAG AAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(413): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCCGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTAC CGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0059 a0002c0003t0059	a0002c0003t0059g0037 a0002c0003t0059g0037	1	122	0.0082	420	c.387 others(439): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCCGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(413): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCCCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTAC CGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0034 a0001c0004t0010g0034	1	122	0.0082	420	c.387 others(439): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCCCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(413): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0057 a0001c0022t0057	a0001c0022t0057g0138 a0001c0022t0057g0138	1	122	0.0082	420	c.387 others(439): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMA1_chr14_93713298_93793485	93722106	G G	GTGGTGGT others(413): Show GTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGG TAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGT GGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCT GGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTG GTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0220 a0001c0001t0006g0220	1	391	0.0026	420	c.360 others(435): Show c.360-561_360-560insTCACCCCATTACCACCAGCATCACCACTAC CACCACCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATT ACCACCAGCATCACCACTACCACCATCACCCCATTACCACCAGCATCACC ACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCACC CCATTACCACCAGCATCACCACTACCACCATCACCCCATTACCACCAGCA TCACCACTACCACCATCACCCCATTACCACCAGCATCACCACTACCACCA CCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCAC CAGCATCACCACTACCACCATCACCCCATTACCACCAGCATCACCACTAC CACCACCACCCCATTACCACCAGCATCACCACTACCACCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PROZ_chr13_113153648_113177386	113161883	T T	TCCCCCCA others(413): Show TCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAG GTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	351	0.0028	420	c.259 others(435): Show c.259+915_259+916insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACAT CCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113161972	A A	ACATCCTC others(413): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACCTCC TCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	295	0.0034	420	c.260 others(437): Show c.260-1015_260-1014insCCGTCCCTGCCACCTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCTCCCCACATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACCTCCT CACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCT CCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGC TCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCC CCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162135	T T	TCCCCACA others(413): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCT CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	374	0.0027	420	c.260 others(435): Show c.260-834_260-833insCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC TCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162180	C C	CCCCATCC others(413): Show CCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACCTCCT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	324	0.0031	420	c.260 others(435): Show c.260-828_260-827insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162224	C C	CCATCCTC others(413): Show CCATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACGTCCCCCCATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCGCCCCA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	146	0.0068	420	c.260 others(435): Show c.260-767_260-766insCTCCCCGTCCCTGCCACGTCCCCCCATCCT CCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGC TCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCC CCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCT GCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGC CCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATC CTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCT GCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGT CCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAG	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162428	C C	CGCCCCAC others(413): Show CGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACGTCCCCCCATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19002.hp2 NA18994.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0186 a0001c0001t0002g0187	2	324	0.0062	420	c.260 others(435): Show c.260-581_260-580insGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGCTCCCCGTCCCTGC CACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCC CTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCT CCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGC TCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCC CCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCT GCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTC CCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACG	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7			chr13	TogoVar
PROZ_chr13_113153648_113177386	113162723	T T	TCCCCACA others(413): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCTCATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	234	0.0043	420	c.260 others(435): Show c.260-240_260-239insACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162723	T T	TCCCCACA others(413): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCT CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTC AGGTCCCCATCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	234	0.0043	420	c.260 others(435): Show c.260-240_260-239insACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCCCATCCTCCTCCTGCTCAGGTCCCCATCCCTGCCACCGCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133778	T T	TCTCCACC others(413): Show TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	207	0.0048	420	c.23 others(431): Show c.2346_*2347insCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2066		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392594	G G	GTGGTGAT others(413): Show GTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGAT GGTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGG TGGTAATGGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATG GTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGG TGGTGATGATGGTGATGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	364	0.0027	420	c.-46 others(431): Show c.-4633_-4632insTGGTGATAATGGTGATGGTGATGGTGGTGGTAAT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGGTGATAACGGTGA TGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTAAT GGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGG TGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTG GTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGT GATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGG TGATGATGGTGATGGTGGTGATGATGGTGATGGTGA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4605		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51696849	A A	ACACACAC others(413): Show ACACACACAGGTCCACACACATACACACAGGTCCACACACATACACAGGC CCACACACATACACACACAGGTCCACGCACATCCACACACACCGGTCCAC GCACATCCACACACAGGTCCACACACATACACACACACAGGTCCACACAC ATCCCCACACACACACACACACACACACACAGGTCCACACACATCCACAC ACAGGCCCACACACATCCACACACACAGGTCCACACACATCCACACACAC AGGTCCACACACATCCACATACACAGTTCCACACACAACCACACACAGGT CCACACACATCCACACACAGGTCCATGCACATACACACACAGGTCCACAC ACATACACATACACAGTTCCACACACATCCACACACAAGTCCACACACAT CCACACGCACGTCCACGCATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02559.hp1 others(10): Show HG01884.hp2 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA19043.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0007 a0010 a0024 a0030	a0001c0001 a0002c0002 a0004c0004 others(5): Show a0001c0001 a0002c0002 a0004c0004 a0007c0006 a0010c0012 a0010c0045 a0024c0049 a0030c0042	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0007c0006t0001 a0010c0012t0001 a0010c0045t0001 a0024c0049t0003 a0030c0042t0001	a0001c0001t0001g0047 a0002c0002t0001g0039 a0002c0002t0001g0040 others(10): Show a0001c0001t0001g0047 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0053 a0004c0004t0001g0037 a0007c0006t0001g0042 a0007c0006t0001g0043 a0007c0006t0001g0045 a0007c0006t0001g0046 a0010c0012t0001g0038 a0010c0045t0001g0052 a0024c0049t0003g0014 a0030c0042t0001g0044	13	111	0.1171	420	c.165 others(439): Show c.165-42090_165-42089insGATGCGTGGACGTGCGTGTGGATGTG TGTGGACTTGTGTGTGGATGTGTGTGGAACTGTGTATGTGTATGTGTGTG GACCTGTGTGTGTATGTGCATGGACCTGTGTGTGGATGTGTGTGGACCTG TGTGTGGTTGTGTGTGGAACTGTGTATGTGGATGTGTGTGGACCTGTGTG TGTGGATGTGTGTGGACCTGTGTGTGTGGATGTGTGTGGGCCTGTGTGTG GATGTGTGTGGACCTGTGTGTGTGTGTGTGTGTGTGTGTGGGGATGTGTG TGGACCTGTGTGTGTGTATGTGTGTGGACCTGTGTGTGGATGTGCGTGGA CCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGTATGTGTGTGGGCCTG TGTATGTGTGTGGACCTGTGTGTATGTGTGTGGACCTGTGTGTG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(413): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0001 a0001c0055t0001	a0001c0055t0001g0172 a0001c0055t0001g0172	1	333	0.0030	420	c.205 others(435): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCAC CGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCT CACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0152 a0004c0006t0001g0152	1	221	0.0045	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCTCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGGTCGGCGTGG GTAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGG GTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGAGT GAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0155 a0005c0016t0001g0155	1	221	0.0045	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCCTCCTCACTCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCACCG CCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCA CTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTACCCACGCCGA CCCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(104): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG03491.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18955.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18980.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18991.hp1 NA18997.hp1 NA19002.hp2 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0005 a0008 a0009 a0012 a0014 a0017 a0018 a0019 a0021 a0032 a0033 a0035	a0001c0001 a0002c0002 a0002c0005 others(17): Show a0001c0001 a0002c0002 a0002c0005 a0002c0020 a0002c0046 a0002c0067 a0004c0008 a0005c0007 a0005c0016 a0008c0012 a0009c0013 a0012c0019 a0014c0027 a0017c0026 a0018c0057 a0019c0056 a0021c0058 a0032c0047 a0033c0065 a0035c0061	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(18): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0002c0020t0001 a0002c0046t0001 a0002c0067t0001 a0004c0008t0001 a0005c0007t0001 a0005c0007t0002 a0005c0016t0001 a0008c0012t0001 a0009c0013t0001 a0012c0019t0001 a0014c0027t0001 a0017c0026t0001 a0018c0057t0001 a0019c0056t0001 a0021c0058t0001 a0032c0047t0001 a0033c0065t0001 a0035c0061t0001	a0001c0001t0001g0122 a0002c0002t0001g0001 a0002c0002t0001g0002 others(42): Show a0001c0001t0001g0122 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0214 a0002c0005t0001g0037 a0002c0005t0001g0140 a0002c0005t0001g0142 a0002c0020t0001g0135 a0002c0020t0001g0190 a0002c0020t0001g0191 a0002c0046t0001g0137 a0002c0067t0001g0241 a0004c0008t0001g0017 a0004c0008t0001g0025 a0004c0008t0001g0199 a0005c0007t0001g0048 a0005c0007t0001g0219 a0005c0007t0001g0223 a0005c0007t0002g0054 a0005c0016t0001g0157 a0005c0016t0001g0158 a0008c0012t0001g0044 a0008c0012t0001g0200 a0008c0012t0001g0201 a0009c0013t0001g0018 a0009c0013t0001g0217 a0012c0019t0001g0042 a0012c0019t0001g0194 a0014c0027t0001g0215 a0014c0027t0001g0216 a0017c0026t0001g0212 a0018c0057t0001g0192 a0019c0056t0001g0189 a0021c0058t0001g0195 a0032c0047t0001g0138 a0033c0065t0001g0235 a0035c0061t0001g0202	107	327	0.3272	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp1 HG03209.hp2 HG02258.hp2 HG03041.hp1 HG03209.hp2	a0004 a0004	a0004c0006 a0004c0050 a0004c0006 a0004c0050	a0004c0006t0001 a0004c0050t0001 a0004c0006t0001 a0004c0050t0001	a0004c0006t0001g0038 a0004c0050t0001g0151 a0004c0006t0001g0038 a0004c0050t0001g0151	3	223	0.0135	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCTCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0221 a0005c0007t0001g0221	1	221	0.0045	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0001 a0017c0026t0001	a0017c0026t0001g0213 a0017c0026t0001g0213	1	221	0.0045	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCTCTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513804	G G	GAGGGGTC others(413): Show GAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0024 a0024	a0024c0051 a0024c0051	a0024c0051t0001 a0024c0051t0001	a0024c0051t0001g0148 a0024c0051t0001g0148	1	353	0.0028	420	c.205 others(435): Show c.2059-93_2059-92insACTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCT CCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCAC GCCGACCCCTCCTCACTCCCCACTGCCCACGCTGACCCCT	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(413): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA20805.hp1 HG04228.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0094 a0001c0004t0001g0167 a0001c0001t0001g0094 a0001c0004t0001g0167	2	200	0.0100	420	c.205 others(432): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	30	0.0333	420	c.36 others(431): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGG GGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar

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