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
LHFPL3_chr7_104323603_104913561	104824253	A A	ATATTATA others(778): Show ATATTATATATTATATATATAATATATATATTATATATTATATATTATAT ATAATATATATATTATATATTATATATTATATATATAATATATATATTAT ATATTATATATTATATATATAATATATATATTATATATTATATATTATAT ATATTATATATATATTATATATTATATAATATATATATTATATATTATAT ATATTATATTATATATTATATATATAATATATTATATTATATATATTATA TAATATATTATATATTATATATATATTATATAATATATTATATATAATTA TATATATTTTATATATTATATATTATATATTATATATTATATATTATATA TTATATTATATATAATTATATATATTTTATATATTATATATTATATATTA TATATTATATATTATATATATTATATATTATATATTATATATTATATATT ATATATTATATATTATATATACAATTATATATATTATATATATTATATAT TATATATATTATATTATATAATATATTATATATATAATATATATTATATA TTATATATTATATAATATATTATATATATAATATATATTATATATTATAT ATTATATAATATATTATATATATAATATATATTATATATTATATATTATA TAATATGTTATATATATAATATATATTATATATTATATATTATATAATAT ATTATATATATAATATATATTATATAATATATATTATATATATATTATAT ATATAATATATATTATATAATATATATTATATAAAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	67	0.0149	785	c.683 others(804): Show c.683-81934_683-81933insTATTATATATTATATATATAATATAT ATATTATATATTATATATTATATATAATATATATATTATATATTATATAT TATATATATAATATATATATTATATATTATATATTATATATATAATATAT ATATTATATATTATATATTATATATATTATATATATATTATATATTATAT AATATATATATTATATATTATATATATTATATTATATATTATATATATAA TATATTATATTATATATATTATATAATATATTATATATTATATATATATT ATATAATATATTATATATAATTATATATATTTTATATATTATATATTATA TATTATATATTATATATTATATATTATATTATATATAATTATATATATTT TATATATTATATATTATATATTATATATTATATATTATATATATTATATA TTATATATTATATATTATATATTATATATTATATATTATATATACAATTA TATATATTATATATATTATATATTATATATATTATATTATATAATATATT ATATATATAATATATATTATATATTATATATTATATAATATATTATATAT ATAATATATATTATATATTATATATTATATAATATATTATATATATAATA TATATTATATATTATATATTATATAATATGTTATATATATAATATATATT ATATATTATATATTATATAATATATTATATATATAATATATATTATATAA TATATATTATATATATATTATATATATAATATATATTATATAATATATAT TATATAAAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104824253	A A	ATATTATA others(778): Show ATATTATATATTATATATATAATATATATATTATATATTATATATTATAT ATAATATATATATTATATATTATATATTATATATATAATATATATTATAT ATTATATATTATATATATAATATATATATTATATATTATATATTATATAT ATTATATATATATTATATATTATATAATATATATATTATATATATAATAT ATTATATTATATATTATATATATAATATATTATATTATATATATTATATA ATATATTATATATTATATATATATTATATAATATATTATATATAATTATA TATATTTTATATATTATATATTATATATTATATATTATATATTATATATT ATATTATATATAATTATATATATATTATATATTATATATTATATATTATA TATTATATATTATATATATTATATATTATATATTATATATTATATATATT ATATATTATATATTATATATACAATTATATATATTATATATATTATATAT TATATATATTATATTATATAATATATTATATATATAATATATATTATATA TTATATATTATATAATATATTATATATATAATATATATTATATATTATAT ATTATATAATATATTATATATATAATATATATTATATATTATATATTATA TAATATATTATATATATAATATATATTATATATTATATATTATATAATAT ATTATATATATAATATATATTATATAATATATATTATATATATATTATAT ATATAATATATATTATATAATATATATTATATAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	67	0.0149	785	c.683 others(804): Show c.683-81934_683-81933insTATTATATATTATATATATAATATAT ATATTATATATTATATATTATATATAATATATATATTATATATTATATAT TATATATATAATATATATTATATATTATATATTATATATATAATATATAT ATTATATATTATATATTATATATATTATATATATATTATATATTATATAA TATATATATTATATATATAATATATTATATTATATATTATATATATAATA TATTATATTATATATATTATATAATATATTATATATTATATATATATTAT ATAATATATTATATATAATTATATATATTTTATATATTATATATTATATA TTATATATTATATATTATATATTATATTATATATAATTATATATATATTA TATATTATATATTATATATTATATATTATATATTATATATATTATATATT ATATATTATATATTATATATATTATATATTATATATTATATATACAATTA TATATATTATATATATTATATATTATATATATTATATTATATAATATATT ATATATATAATATATATTATATATTATATATTATATAATATATTATATAT ATAATATATATTATATATTATATATTATATAATATATTATATATATAATA TATATTATATATTATATATTATATAATATATTATATATATAATATATATT ATATATTATATATTATATAATATATTATATATATAATATATATTATATAA TATATATTATATATATATTATATATATAATATATATTATATAATATATAT TATATAAAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHPP_chr10_124456823_124619141	124507236	G G	GGTAGACA others(778): Show GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGAT AGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGT ATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGATAGGGAGGATTTCAGGTGGGGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	207	0.0048	785	c.624 others(802): Show c.624+9112_624+9113insACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGA TTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTT CAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCA GGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAG GTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGG TGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGG GGAGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507256	G G	GGGGGGTA others(778): Show GGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGG GGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGG GGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGAG TAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGAGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAG GGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGT ATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	198	0.0051	785	c.624 others(802): Show c.624+9133_624+9134insTAGGCAGGATTTCAGGTCGGGGGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGG AGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGA TTTCAGGTGGGGAGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAG GTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGG TGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGG TGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGT GTGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(778): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03139.hp2 HG03209.hp1 HG02897.hp2 HG03139.hp2 HG03209.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0019 a0001c0001 a0014c0019	a0001c0001t0001 a0014c0019t0001 a0001c0001t0001 a0014c0019t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0014c0019t0001g0097 a0001c0001t0001g0087 a0001c0001t0001g0088 a0014c0019t0001g0097	3	200	0.0150	785	c.337 others(804): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGT TTTGCTTCT	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(778): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0095 a0001c0013t0001g0095	1	198	0.0051	785	c.337 others(804): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGT TTTGCTTCT	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(778): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCT CCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	4	0.2500	785	c.114 others(804): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTC CCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCC CCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCC TCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(778): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTTAAACTATATAGTTTATAGTTT TAAACTATATAGTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTTAAACTATATAGTTTATAGTTTTA AACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAA AACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAC TATATAGTTTATATAGTTTAAACTATATAGTTTATATAGTTTAAACTATA TAGTTTATATAGTTTAAACTATATAGTTTATATAGTTTTAAACTATATAG TTTATATAGTTTTAAACTATATAGTTTAAACTATATAGTTTTAAACTAGT TTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAA ACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGT AGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACT AGTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	38	0.0263	785	c.342 others(804): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAA CTATATATAAACTAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAA ACTATATAAACTATATAGTTTAAAACTATATAAACTATATAGTTTAAACT ATATAAACTATATAGTTTAAACTATATAAACTATATAGTTTAAACTATAT AAACTATATAGTTTAAACTATATAAACTATATAGTTTTAAACTATATAAA CTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACT ATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAA CTATATAGTTTAAAACTATAAACTATATAGTTTAAAACTATATAGTTTAA AACTATAAACTATATAGTTTAAAACTATATAGTTTAAAACTATAAACTAT ATAGTTTAAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAACT ATATAGTTTAAAACTATAAACTATATAGTTTAAAACTATATAGTTTAAAA CTATAAACTATATAGTTTAAAACTATATAGTTTAAAACTATAAACTATAT AGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
PCDH15_chr10_53797771_54806231	54332334	A A	ATATTATT others(778): Show ATATTATTATATATAATATAATATAATCTATATTATATATTATTATATAT AATATATAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATATTATTATATATAATATATAATCTATATTATATATTATTATAT ATAATATAATATAATCTATATTATATATTATTATATATAATATAATATAA TCTATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATAATATAATCTATATTATATATTATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATATAATCTATA TTATATATTATTATATATAATATAATATAATCTATATATTATTATATATA ATATAATATAATCTATATTATATATTATTATATATAATATAATATAATCT ATATTATATATTATTATATATAATATAATATAATCTATATTATATATTAT TATATATAATATAATATAATCTATATTATATATTATTATATATAATATAA TATAATCTATATTATATATTATTATATATAATATAATCTATATTATATAT TATTATATATAATATAATCTATATTATATATTATTATATATAATATAATC TATATTATATATTATTATATATAATATAATCTATATTATATATTATTATA TATAATATAATCTATATTATATATTATTATATATAATATAATCTATATTA TATATTATTATATATAATATAATCTATATTATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0015 a0002c0002t0005g0015	1	90	0.0111	785	c.595 others(802): Show c.595-2629_595-2628insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATATAATAATATATAATATAGATT ATATTATATATAATAATATATAATATAGATTATATTATATATAATAATAT ATAATATAGATTATATTATATATAATAATATATAATATAGATTATATTAT ATATAATAATATATAATATAGATTATATTATATATAATAATATATAATAT AGATTATATTATATTATATATAATAATATATAATATAGATTATATTATAT TATATATAATAATATATAATATAGATTATATTATATTATATATAATAATA TATAATATAGATTATATTATATTATATATAATAATATATAATATAGATTA TATTATATTATATATAATAATATATAGATTATATTATATTATATATAATA ATATATAATATAGATTATATTATATTATATATAATAATATATAATATAGA TTATATTATATTATATATAATAATATATAATATAGATTATATTATATTAT ATATAATAATATATAATATAGATTATATTATATTATATATAATAATATAT AATATAGATTATATTATATTATATATAATAATATATAATATAGATTATAT TATATTATATATAATAATATATAATATAGATTATATATTATATATAATAA TATATAATATAGATTATATTATATTATATATAATAATATATAATATAGAT TATATATTATATATAATAATATATAATATAGATTATATTATATTATATAT AATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332334	A A	ATATTATT others(778): Show ATATTATTATATATAATATAATATAATCTATATTATATATTATTATATAT AATATATAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATATTATTATATATAATATATAATCTATATTATATATTATTATAT ATAATATAATATAATCTATATTATATATTATTATATATAATATAATATAA TCTATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATAATATAATCTATATTATATATTATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATATAATCTATA TTATATATTATTATATATAATATAATATAATCTATATATTATTATATATA ATATAATATAATCTATATTATATATTATTATATATAATATAATATAATCT ATATTATATATTATTATATATAATATAATATAATCTATATTATATATTAT TATATATAATATAATATAATCTATATTATATATTATTATATATAATATAA TATAATCTATATTATATATTATTATATATAATATAATCTATATTATATAT TATTATATATAATATAATCTATATTATATATTATTATATATAATATAATC TATATTATATATTATTATATATAATATAATCTATATTATATATTATTATA TATAATATAATCTATATTATATATTATTATATATAATATAATCTATATTA TATATTATTATATATAATATAATCTATATTATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0015 a0002c0006t0001g0015	1	84	0.0119	785	c.595 others(802): Show c.595-2629_595-2628insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATATAATAATATATAATATAGATT ATATTATATATAATAATATATAATATAGATTATATTATATATAATAATAT ATAATATAGATTATATTATATATAATAATATATAATATAGATTATATTAT ATATAATAATATATAATATAGATTATATTATATATAATAATATATAATAT AGATTATATTATATTATATATAATAATATATAATATAGATTATATTATAT TATATATAATAATATATAATATAGATTATATTATATTATATATAATAATA TATAATATAGATTATATTATATTATATATAATAATATATAATATAGATTA TATTATATTATATATAATAATATATAGATTATATTATATTATATATAATA ATATATAATATAGATTATATTATATTATATATAATAATATATAATATAGA TTATATTATATTATATATAATAATATATAATATAGATTATATTATATTAT ATATAATAATATATAATATAGATTATATTATATTATATATAATAATATAT AATATAGATTATATTATATTATATATAATAATATATAATATAGATTATAT TATATTATATATAATAATATATAATATAGATTATATATTATATATAATAA TATATAATATAGATTATATTATATTATATATAATAATATATAATATAGAT TATATATTATATATAATAATATATAATATAGATTATATTATATTATATAT AATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(778): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	218	0.0046	785	c.129 others(802): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(778): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19081.hp2 HG00621.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0154 a0001c0001t0002g0156	2	219	0.0091	785	c.129 others(802): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCAG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(778): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCT GAATAGATCTTTTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0107 a0001c0003t0001g0107	1	50	0.0200	785	c.129 others(802): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAAAAG ATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PERM1_chr1_970198_987093	977065	C C	CAACCCCG others(778): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCCGCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	169	0.0059	785	c.215 others(802): Show c.2150-442_2150-441insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGG GAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGG GAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTG CGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGG GAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGGTGGCGGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGG AGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG TGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCC CGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(778): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTG TGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGG GTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTG AGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGG GCGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATG CACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGG AGGGGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGAT GCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGA GGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGG ATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGG GGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	34	0.0294	785	c.299 others(800): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCC CCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACA CCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCCCCCCTCCCCCAGACTCAGTGCATCCCC ACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCC CAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCC CCACACCCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTC CCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCA TCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACGCCCCCCCT CCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTG CATCCCCATGCCCCGCCCTCTCCCCAGACTCAGTGCATCCCCACGCCCCG CCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(778): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTC ACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC TCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGT AGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCCGGACGGGGCAGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	4	0.2500	785	c.328 others(804): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCACCACTTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGG CGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCAC TTCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCCGGACGGG GCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGG CGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGC GACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGG CTGACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(778): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTC ACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCACC TCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGT AGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	4	0.2500	785	c.328 others(804): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGG CGCCCCTCACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCAC TTCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGG CAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGG CTGACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(778): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	140	0.0071	785	c.309 others(804): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCCTCCCTCCCTGCCTTCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTC CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCC TCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHN1_chr1_961482_980865	977065	C C	CAACCCCG others(778): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCCGCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	185	0.0054	785	c.24 others(796): Show c.2490_*2491insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTGCCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC G	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1201		chr1	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(778): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCGTGGGGAGGAGGGGAAGGC ATGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGCGAGGGGAGGAGG GGGCCGCGTGGGGAGGAGGGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGG GAGGAGGGGAAGGCTTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGAGCC GCGTGGGGAGGAGGGGGCCACATGGGGAGGAGGCGCCGCGTGGGGAGGAG GGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGG GGAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCC GTGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGA GGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGAGGGCCGCGTG GGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGC CGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGG AGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGCCGCGTG GGGAGGAGGGGGCCGCGTGGGGAGGAGGGGCCGCGTGGGGAGGAGGGGGC CGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGG AGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGT GGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	3	0.3333	785	c.159 others(802): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCACGCGGCCCCC TCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGC GGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTC CCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCTCCTCCCCACGCGGCCCC CTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGCGCCTCCTCCCCACGC GGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTC CCCACGCGGCCCCCTCCTCCCCACACGGCGCCTCCTCCCCACGCGGCCCC CTCCTCCCCACGCGGCCCTCTCCTCCCCACGCGGCCCCCTCCTCCCCACG CGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCT CCCCACACGGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGCCCC CCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTC ACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCATGTGGCCCCCTCCT CCCCACGCGGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTC CCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCA CGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCATGTGGCCCCCTC CTCCCCATGCCTTCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGCCT TCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(778): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC GTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGA GGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTG GGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGCC GCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCGCGTGGGGAGGA GGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGCCGCGTGGG GAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAG GCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGA GGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGCCGCGTGG GGAGGAGGCGCCGTGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGCCG CGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAG GGGGCCGCGTGGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGGGCTGTGTG GGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0052 a0001c0010t0002g0052	1	3	0.3333	785	c.159 others(802): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCTCGCGGCCCC CTCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCC TCCCCACGCGGCCCCCTCCTCCCCACACGGCGCCTCCTCCCCACACGGCG CCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGCGCCTCCTCCCCACG CGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGCCCCCCTCCT CCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCC CCCTCCTCCCCACGCGGCGCCTCCTCCCCACACGCCCCCTCCTCCCCACG CGGCACCCTCCTCCCCACGCGGCCCCCTCCTCTCCTCACGGCCCCCTCCT CCCCACGCGGCGCCTCCTCCCCACACGCCCCCTCCTCCCCACGCGGCACC CTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACG CGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCTCCT CTCCTCACGGCCCCCTCCTCCCCACGCGGCTCCCTCCTCCCCTCGCGGCC CCCTCCTCCCCAAGCCTTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCT CACAGCCCCCTCCTCCCCACGTGGCCCCCTCCTCCCCACGCGGCCCCCTC CTCCCCTCGCGGCCCGCTCCTCCCCATGTGGCCCCCTCCTCCCCACGCCT TCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1073078	G G	GAGCCCCC others(778): Show GAGCCCCCAGCACACGGGTATCACACTTAACGCAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATG CAGCCCCCAGTGAGCCTCCAGCACACGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	100	0.0100	785	c.224 others(802): Show c.2241+554_2241+555insGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTGCGTTAAGTGTGATGCCCGTGTGCTGGGGGCTCACT GGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTG CATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCC GTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGAGGCTCACT GGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTGC ATAAGTGTGATACCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGT GATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCG TGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCAC TGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTG CATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCC GTGTGCTGGGGGCTCACTGGGGGCTGCGTTAAGTGTGATACCCGTGTGCT GGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098103	A A	ACACCCAG others(778): Show ACACCCAGCCCCCCACAACCCTCTGCAAGCCCAGCCCCCCTCTAACCCTC TGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAAC CCTCTGCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCT CTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCA GGCCCCCTTTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACA CCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACC CTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCT AACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCC CTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGC CCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACC CAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCA CGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTC TGCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAA CCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0004 a0003c0027t0004	a0003c0027t0004g0029 a0003c0027t0004g0029	1	118	0.0085	785	c.125 others(802): Show c.125-3856_125-3855insAGCAGAGGGTTAGAGGGGGGCTGGGTGT GCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGG GCTGGGCGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAG GGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGC AGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGC ATGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAA AGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGG TTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAG AGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTG GGCGTGCAGAGGGTTAGAGGGGGGCTGGGCTTGCAGAGGGTTGTGGGGGG CTGGGTG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(778): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAA TATATATAATATATATATTATATATATTATATATATTATATATAATATAA ATATATTATATATAATATATATAATATAAATATATTATATATATTATATA TAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATAATATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATATTATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	132	0.0076	785	c.-70 others(802): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATTTATATTA TATATAATATATATAATATATTTATATTATATATAATATATATAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATATTATATA TAATATATTTATATTATATATAATATATATAATATATATAATATATATAT TATATATATTATATATAATATATATATTATATATATTATATATAATATAT TTATATTATATATTATATATAATATATTTATATTATATATTATATATAAT ATATTTATATTTATATAATATATAATATATTTATATTTATATATAATATA TATAATATATTTATATTTATGTATAATATATATAATATATTTATATTTAT GTATAATATATATAATATATTTATATTTATGTATAATATATATAATATAT TTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(778): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGACGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGTGGGTGGGAGGGAGGGAGAGGGAGGGTGGGA GGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGG CAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGG GAGGCAGGGAGGCAGGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGG CAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGA GGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGG GAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGG CAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGGGG GAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp2 HG02055.hp1 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0026 a0002c0044 a0001c0026 a0002c0044	a0001c0026t0004 a0002c0044t0007 a0001c0026t0004 a0002c0044t0007	a0001c0026t0004g0067 a0002c0044t0007g0101 a0001c0026t0004g0067 a0002c0044t0007g0101	2	3	0.6667	785	c.227 others(804): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTCCCTGCC TCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCACCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCG TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCACCC TCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCGCTCCCTC CCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCTCTCCC TGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTATG others(778): Show TGTGTATGCACATATATACATATATACACATATGTGTACATATGTGTATA TATACATATATATACACATATATATGTATATATACACATATGTGTATATG TATATATGTATATATACACATATGTGTATATATGTATATATACACATATG TGTATATATGTATATATACATATACACATATATGTATATATACATAGGTG TATATATGTGTTATATATACACATAGGTGTATATATGTGTTATATATACA CATAGGTGTATATATGTGTTATATATACACATAGGTGTATATATGTGTTA TATATACACATAGGTGTATATATGTGTTATATATACACATAGGTGTATAT GTATATATGTATATATACACATATGTGTATATGTATATATGTATATACAC ATATGTGTATATGTATATATGTATATATACACATATGTGTATATATGTAT ATATACATATACACATATGTGTATATATAACACATATATACATATTCACA TATGTGTATATACATATATACATATACACATATGTGTATATACATATATA CATATACACATATGTGTATATATACATATATACATATACACCTATGTGTA TATATAACACATATATACACCTATGTGTATATATAACACATATATACACC TATGTGTATATATAACACATATATACACCTATGTGTATATATAACACATA TATACACCTATGTGTATATATAACACATATATACACCTATGTGTATATAT AACACATATATACATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0113	1	220	0.0045	785	c.158 others(804): Show c.1582-2869_1582-2868insGTGTATGCACATATATACATATATAC ACATATGTGTACATATGTGTATATATACATATATATACACATATATATGT ATATATACACATATGTGTATATGTATATATGTATATATACACATATGTGT ATATATGTATATATACACATATGTGTATATATGTATATATACATATACAC ATATATGTATATATACATAGGTGTATATATGTGTTATATATACACATAGG TGTATATATGTGTTATATATACACATAGGTGTATATATGTGTTATATATA CACATAGGTGTATATATGTGTTATATATACACATAGGTGTATATATGTGT TATATATACACATAGGTGTATATGTATATATGTATATATACACATATGTG TATATGTATATATGTATATACACATATGTGTATATGTATATATGTATATA TACACATATGTGTATATATGTATATATACATATACACATATGTGTATATA TAACACATATATACATATTCACATATGTGTATATACATATATACATATAC ACATATGTGTATATACATATATACATATACACATATGTGTATATATACAT ATATACATATACACCTATGTGTATATATAACACATATATACACCTATGTG TATATATAACACATATATACACCTATGTGTATATATAACACATATATACA CCTATGTGTATATATAACACATATATACACCTATGTGTATATATAACACA TATATACACCTATGTGTATATATAACACATATATACATATACACATATGT GTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(778): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTA TTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGT AGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGA TGGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTG GTGACGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGT GGTGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGGTGA TGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTATTCCCA GTGATAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGTGGTATT CCTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGGTAGTAC CCCTGGTGGTGGTGATTATGAAAATGGCTATGTCAGTGATGCTGATTGTG ATGGTGACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTGATGGCT ATGGTGGTGATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	121	0.0083	785	c.-78 others(804): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGACAGTAGTACTCCCGGTGATGGTGTCAGTGGTGG GGATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTG GTGGGGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGTGTC AGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAGTGATGG TGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGG ATGGTGATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGATGGTGAT GGTGGTGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGGGGAGAG TGGTGGTGATGATGGTAGTACCCCTGGTGGTGGTGATTATGAAAATGGCT ATGTCAGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGTGATGGG GTAATGAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAATGGAGAT GGTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL8_chr22_50013575_50063298	50028765	C C	CCTCGTAA others(778): Show CCTCGTAAAGACCCCCATCACACCATCCTGAAGACCCCCACACACACTCG TAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGA CCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCCATCACACC GTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTG AAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCC CACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACA CCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCC ACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp2 HG01106.hp2 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0048 a0003c0003t0001g0045 a0003c0003t0001g0048	2	154	0.0130	785	c.225 others(804): Show c.2251+1664_2251+1665insTGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACG AGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGT GTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGG TCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTT AGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGG TGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGAT GGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGGT CTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ZDHHC9_chrX_129798288_129848886	129842566	T T	TAAAACCT others(778): Show TAAAACCTCCCTCCCGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCA ACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAG AAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGT CTGTGTGGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTA AGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCA ACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGAT TAAGGGCGGTGCAAGATGTGCTTTGTTAAACAAATGCTTGAAGGCAGCAT GCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACA AACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTT TGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCC TGCCAAATACCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAAT AAATTAAAAAAAATAAAAAATAAAAAATAAAATAAATAAATAAATAAATA AATAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	256	0.0039	785	c.-13 others(802): Show c.-135-487_-135-486insTTTTTTTTTTTTTTTTTTTTTTTTTATT TATTTATTTATTTATTTATTTATTTATTTTATTTTTTATTTTTTATTTTT TTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGT ATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACA AGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCC GCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCT TAACGAGCATGCTGCCTTCAAGCATTTGTTTAACAAAGCACATCTTGCAC CGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAG CACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGA ATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTT CCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTC CCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAA TGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCC GGAGGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCGGGAGGG AGGTTTT	ZDHHC9	ENSG00000188706.13	transcript	ENST00000357166.11	protein_coding	2/10			chrX	TogoVar
ZNF627_chr19_11592483_11624161	11613137	C C	CCCCCCCT others(778): Show CCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCTCCCTCCTTCCCCCC TCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCC CCCTTCCTCATCCCCTTCCCCTCCCCTCTCCTCCTCCTCCCTCCCCCCTC CCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCC CCTCCCCTCCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCC TCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTC CCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCCTTCCCCTTCCCCTTCC TCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCC TCCCTCCCCTCCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCT CCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCC CCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCT CCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCCTCCTC TTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCCTCTCCCCTCCC CTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTC CCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCC CTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	270	0.0037	785	c.4-1 others(798): Show c.4-1385_4-1384insCTCCCCTCCCCTCCTTCCCCCCTCCCCTCTCC CTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCC CCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCTCCCCTCTCCTCCTCCT CCCTCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCCTTCCTCCTCCCCTTCCTCCTCTCC TCCTCCCTCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCCTTCC CCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTC CCCCTTCCCTCCTCCCTCCCCTCCCCCCTTCCCTCCTTCCTCCCCTCCCC CTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCC CCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCT CCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCTC CTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCC CTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCC CTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCA CCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCC CCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(778): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCA TCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCT TCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTC CCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTC TCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCCC TCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCC CTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCT CTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTT CCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCT CCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTC CCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp2 others(50): Show HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01943.hp1 HG02004.hp2 HG02056.hp1 HG02145.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03225.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18945.hp2 NA18960.hp2 NA18966.hp2 NA18970.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA19004.hp2 NA19068.hp1 NA19079.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009	a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0001c0002t0004 a0001c0005t0006 a0001c0009t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 others(42): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0006g0170 a0001c0002t0003g0171 a0001c0002t0003g0173 a0001c0002t0004g0169 a0001c0002t0004g0180 a0001c0002t0004g0181 a0001c0002t0004g0184 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0274 a0001c0005t0006g0213 a0001c0009t0002g0064	53	61	0.8689	785	c.4-1 others(798): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCC CCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCC CCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCC CTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTT CCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCC CCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCT ACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTC CTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCT CCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCT CCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCT CCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATC TTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCT CCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCT CCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(778): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCA TCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCT TCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTC CCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTC TCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCCC TCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCC CTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTT TCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCT CTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTT CCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCT CCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTC CCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	9	0.1111	785	c.4-1 others(798): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCC CCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCC CCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCC CTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTT CCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCC CCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCT ACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTC CTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCT CCCCTCCCCTTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCT CCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCT CCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATC TTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCT CCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCT CCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAMTS16_chr5_5135330_5325304	5305385	A A	ACACATCC others(779): Show ACACATCCCACACCACACACACACTTCCCACACCACACACACACACACTT CCCACACCACACACACACAAATCCCACACCCAAATCCCACACCAGACACA CACACATCCCACACCACACACACACCACACACACCACACCACAGACACAC ACATCCCACACCACACACCCCCCACACACACACATCCCACACCACACACA GACATCCCACACCACACACACATCCCACACCACACACACACACATCCCGC ACCACACACTCACACATCCCACACCACACATACACATCCCACACCACACA CACATACCACACCACACACACACACATCCCACAGCACACACACATCCCAC ACCACACACATCCACACCACACACACACACATCCCACACCAGACACACAC ATCCCACACACACACACACATCCCACATCACACACACACACATCACAAAC ACACATCCCACACCACACACACATCCCACACCACACACACACATCCCACA CACACACACACCCACCACACACACACACATCCCACACCACACACACAATC CCACACCACACACACACACAATCCCACACCACACACACACATCCCATACC ACACACACATCCCACGCCACACACACACACACACCCCACACCACACACAC ATCCCACACCACACACATCCACACCACACACACACATCCCACACCACACA TACACACACACATCCCATACCACACACATCCCACACCACACACACATCCC ACACCACACACACATCCCACACCACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0076 a0002c0076	a0002c0076t0020 a0002c0076t0020	a0002c0076t0020g0279 a0002c0076t0020g0279	1	214	0.0047	786	c.318 others(805): Show c.3187-1119_3187-1118insCACATCCCACACCACACACACACTTC CCACACCACACACACACACACTTCCCACACCACACACACACAAATCCCAC ACCCAAATCCCACACCAGACACACACACATCCCACACCACACACACACCA CACACACCACACCACAGACACACACATCCCACACCACACACCCCCCACAC ACACACATCCCACACCACACACAGACATCCCACACCACACACACATCCCA CACCACACACACACACATCCCGCACCACACACTCACACATCCCACACCAC ACATACACATCCCACACCACACACACATACCACACCACACACACACACAT CCCACAGCACACACACATCCCACACCACACACATCCACACCACACACACA CACATCCCACACCAGACACACACATCCCACACACACACACACATCCCACA TCACACACACACACATCACAAACACACATCCCACACCACACACACATCCC ACACCACACACACACATCCCACACACACACACACCCACCACACACACACA CATCCCACACCACACACACAATCCCACACCACACACACACACAATCCCAC ACCACACACACACATCCCATACCACACACACATCCCACGCCACACACACA CACACACCCCACACCACACACACATCCCACACCACACACATCCACACCAC ACACACACATCCCACACCACACATACACACACACATCCCATACCACACAC ATCCCACACCACACACACATCCCACACCACACACACATCCCACACCACAC ACACACACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72456223	A A	AGTATGTA others(779): Show AGTATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTAT ATATAGTATGTACTCTATATATTTTATATATAGTATGTACTATATATTTT ATATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATATT TTATATATAGTATGTACTATATATATTTTATATATAGTATGTACATTGTA TATACTATATATATATTTTATGTATAGTATGTACTATATATATTTTATGT ATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATAT ATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATA GTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTG TATGTACTATATATATTTTATGTATAGTATATATACT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0081	1	159	0.0063	786	c.505 others(805): Show c.505-41253_505-41252insAGTATATATACTATACATAAAATATA TATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATAC AGTATATATACTATACATAAAATATATATAGTACATACAGTATATATACT ATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATA TATATAGTACATACAGTATATATACTATACATAAAATATATATAGTACAT ACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATATA CTATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAA TATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTAC ATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATA TACTATACATAAAATATATATAGTACATACAGTATATATACTATACATAA AATATATATAGTACATACTATACATAAAATATATATATAGTATATACAAT GTACATACTATACATAAAATATATATAGTACATACTATACATAAAATATA TATATAGTATATACAATGTACATACTATATATAAAATATATATAGTACAT ACTATATATAAAATATATATAGTACATACTATATATAAAATATATAGTAC ATACTATATATAAAATATATAGTACATACTATATATAAAATATATAGAGT ACATACTATATATAAAATATATAGAGTACATACTATATATAAAATATATA GAGTACATAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADARB1_chr21_45069580_45231560	45156122	T T	TCCACCCA others(779): Show TCCACCCATCATCACCTATCATCCATCATCCATTCATCCACCCATCCATC CACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCCACCCA CCCACCCACCCATCATCACCCATCACCCATCATCTATCTATCCATCCATC CACCCATCCATCATTACCCATCATCCATCTATCCATGCACCCACCCACCA TCACCCATCATCCACCCACCCAACCACCCACCATCACCCATCATCCATCA TCCATTCATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATCC ATCCACCCACCCATCATCACCTATCATCCATCATCCATTCATCCATCCAT CCATCCACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCC ACCCACCCACCCATCATCACCCATCACCCATCATCTATCCAGCCATCCAT CCACCCACCCATCATCACCCATCACCCATCATCCATCCATCCATCCACCC ACCCATCATCACCCATCACCCATCATCCATCTATCCATCCACCCACCCAT CATCACCCATCACCCATCATCCATCCATCCATCCACCCACCCATCATCAC CCATCACCCATCATCTATCTATCCATCCATCCACCCACCCATCATTACCC ATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACCCAC CCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCATCT GCCCACCCACCCATCATCCATTCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03669.hp1 HG00741.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0044 a0001c0001t0003 a0001c0001t0044	a0001c0001t0003g0280 a0001c0001t0044g0290 a0001c0001t0003g0280 a0001c0001t0044g0290	2	18	0.1111	786	c.-47 others(805): Show c.-47-15449_-47-15448insCCCATCCATCCACCTACCCATCATCA CCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCACCCATCAT CACCCATCACCCATCATCTATCTATCCATCCATCCACCCATCCATCATTA CCCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACC CACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCA TCTGCCCACCCACCCATCATCCATTCATCCATCCATCCACCCACCCATCA TCACCTATCATCCATCATCCATTCATCCATCCATCCATCCACCTACCCAT CATCACCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCATCA TCACCCATCACCCATCATCTATCCAGCCATCCATCCACCCACCCATCATC ACCCATCACCCATCATCCATCCATCCATCCACCCACCCATCATCACCCAT CACCCATCATCCATCTATCCATCCACCCACCCATCATCACCCATCACCCA TCATCCATCCATCCATCCACCCACCCATCATCACCCATCACCCATCATCT ATCTATCCATCCATCCACCCACCCATCATTACCCATCATCCATCTATCCA TGCACCCACCCACCATCACCCATCATCCACCCACCCAACCACCCACCATC ACCCATCATCCATCATCCATTCATCCATCCATCTGCCCACCCACCCATCA TCCATTCATCCATCCATCCACCCACCCATCATCACCTATCATCCATCATC CATTCATCCA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(779): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATCCACCCATCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCACTCATCCATCCACCCATCCATTCGCCCACCCATT TACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCACCCATCCAT ATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCCACCCACCC ATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCCAC CCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCACT CATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0023 a0023	a0023c0042 a0023c0042	a0023c0042t0001 a0023c0042t0001	a0023c0042t0001g0025 a0023c0042t0001g0025	1	7	0.1429	786	c.775 others(801): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGG TGGGTATATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGG GTAGGTAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGGTGGGT GAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGATGA ATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGT GAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGGATGA ATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGT GGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGATGA ATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGT GGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGA GTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGGGT GGGTGGTGGAACGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCGAA TGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGATGG GTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(779): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATTAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATCCACCCATCCATTCATCCATTCACCCATCCATTCA TCCATTCACCCACCCACTCATCCATCCACCCATCCATTCGCCCACCCATT TACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCACCCATCCAT ATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCCACCCACCC ATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCCAC CCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCACT CATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0144 a0002c0011t0003g0145 a0002c0011t0003g0144 a0002c0011t0003g0145	2	8	0.2500	786	c.775 others(801): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGG TGGGTATATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGG GTAGGTAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGGTGGGT GAATGGATGAATGGATGGGTGAATGGATGAATGGATGGGTGGATGGATGA ATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGT GAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGGATGA ATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGT GGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGATGA ATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGT GGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGA GTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGGGT GGGTGGTGGAAGGGTGGGTGAATGGATGGGTTAATAAATGGGTGGGCGAA TGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGATGG GTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581231	T T	TATGTATA others(779): Show TATGTATACGTATACACACATATACGTATACGTATACACACATATACGTA TACGTATACACACATATACGTATACGTATACACACATATACGTATACGTA TACACACATATACGTATACGTGTACACACATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACGCACACATATACACGTATATA CGTATACGTGTACGCACATATATATACACGTATATACGTATACGTGTACG CACACGTATATACGTATACGTGTACGCACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACA CGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACATACACGTATATACGTATACGTGTACACACACA TACACGTATATACGTATACGTGTACACACACATACACGTATATACCTATA CGTGTACACACATATACCTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0014 a0001c0002t0013g0014	1	161	0.0062	786	c.48- others(803): Show c.48-70767_48-70766insTGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTATACACACATATACGTATACGTATA CACACATATACGTATACGTATACACACATATACGTATACGTGTACACACA TATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACG CACACATATACACGTATATACGTATACGTGTACGCACATATATATACACG TATATACGTATACGTGTACGCACACGTATATACGTATACGTGTACGCACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACATACACGTATATA CGTATACGTGTACACACACATACACGTATATACGTATACGTGTACACACA CATACACGTATATACCTATACGTGTACACACATATACCTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(779): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATTATATATATTATATACATATAATATATATTCTCATATATAT TATATATACTCATATATATAATATATATTCTCATATATATATATTATATA TTCTCATATATATAATATATATATTCTCATATATAATATATATTCTCATA TATATAATATATACTCATATATTATATATATTCTCATATATTATATATAT ACTCATATATAATGTATATATTCTAATATATAATATATATTTTCTCATTT ATATAATATATATTCTCATATATAATATATATTCTCATATATGACATATT ATATATATTCTCATATATATTATATATTCTCATATATAATATATATTCTC ATATAATATATTATATATGCTCATATAATATATTATATATGCTCATATAT AATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAA TATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATA TATTATATATGCTCATATATAATATATTATATATGCTCATATAATATATT ATATATGCTCATATATAATATATTATGTATGCTCATATATAATATATTAT GTATGCTCATATATAATATATTATGTATGCTCATATATAATATATTATGT ATGAGCATATATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	10	0.1000	786	c.10 others(799): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATAATATAT TATATGAGAATATATATTATATATGAGAATATATAATATATATGAGAATA TATATAATATGTCATATATGAGAATATATATTATATATGAGAATATATAT TATATAAATGAGAAAATATATATTATATATTAGAATATATACATTATATA TGAGTATATATATAATATATGAGAATATATATAATATATGAGTATATATT ATATATATGAGAATATATATTATATATGAGAATATATATATTATATATAT GAGAATATATAATATATATATATGAGAATATATATTATATATATGAGTAT ATATAATATATATGAGAATATATATTATATGTATATAATATATATAATAT ATAATATATAATATATAATATATAATATATAATATATACATATATACATA TAATATATAAACATATAATATATAATATATACATGTAATATATATTATAT ATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AP3D1_chr19_2095988_2156566	2128633	C C	CGCTCCGA others(779): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCC CCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCC GACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCA CAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0325 a0001c0003t0002g0325	1	261	0.0038	786	c.806 others(801): Show c.806+456_806+457insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTG TGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCC GGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTC GGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGG GCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGC TCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTG CAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAG CGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCG GGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCA CGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGG CGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(779): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGGAGAGGATGAAGGGGAAGGGGGGAAAACAGAGGGAGAGGATGAAGGGG AAGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGA GGGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGA AGGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGTGGAAGGG GGATGGGGAAGGGGGAAGGGGGATGAGGAAGGGGGAAGGGGGATGGGGAA GGGGGATAGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGG AAGGGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGAT GGGGAAGGGGGATGGGGAAGGGGAGGGGGAGGGGGAAGGGGAGGGGGAGG GGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGGGGAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	3	0.3333	786	c.787 others(801): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCCCC CTTCCCCATCGACCTTCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCT ATCCCCCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTC CCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCC CTTCCCCTCCCCTTCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCC CCTCCCCCTTCCCCACCCCATCCCCCTTCCCTATCCCCCTCCCCTCCCCC CTCCCCATCCCCTCCCCCTCCCCCTTCCCCACCCCCATCCCCCTTCCCCA TCCCCCTTCGCCTCCCCCTCCCCTCCACCTCCCCATCCCCTCCACCTCCC CATCCCCTCCACGTCCCCCTCCCCTCCAACCTCCCCCTCCCCTCCAACCT CCCCCTTCCCCTTCATCCTCTCCCTCTGTTTTCCCCCCTTCCCCTTCATC CTCTCCCTCTGTTTTCCCCCTTCTCTTTCCCCTCCCCTTCCCCTCCCCTT TCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCTTTCCCCTCCCCTTTCCC CTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTCCCCTCCCGTTTCCCCTC CCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTTTCCCTCTCCCTCCTCCC CTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(779): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGTGGTGTGGTGATGTGGTGTGGTGATGAT GGTGTGGTGGTGATGATGTGGTGATGTGATGGTATGGTGATGATGGTGTG GTGATGATGATGTGGTGGTGGATGGTGATGTGATGTGGTGTGATGGTGAT GGTGATGATGTGTGTGGTGATGTGGTGATGGTGTGATGGTGTGGTGATGA TGGTGTGATGTGATGGTGATGGGTATTGATGGTGATGATGGTGATGGTGA TGATGTGATGGTGATGATGGTGATGATGGTGATAGTTATGATGGTGATGG TGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATG TGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTG ATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGATGGTGATGATGGTGATGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATGACGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGGAGATGGAGATGTTGGTGATGATGGTGATGGT GGTGATGATGTGATGGTAATGGTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	196	0.0051	786	c.963 others(803): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCTCCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCGTCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCACCATCATC ACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC CATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCA TCACCATCACATCATCACCATCACCATCATCACCATCATCACCATCATCA ACATCATCACCATCACCATCATAACTATCACCATCATCACCATCATCACC ATCACATCATCACCATCACCATCATCACCATCAATACCCATCACCATCAC ATCACACCATCATCACCACACCATCACACCATCACCACATCACCACACAC ATCATCACCATCACCATCACACCACATCACATCACCATCCACCACCACAT CATCATCACCACACCATCATCACCATACCATCACATCACCACATCATCAC CACCACACCATCATCACCACACCACATCACCACACCACATCATCACCATC ACATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACT ATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATCAC CATCATCACCATCACCATCATCACCATCATCACCATCACATCATCACCGT CACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C7orf50_chr7_992006_1143247	1129019	C C	CGTCACCC others(779): Show CGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTG GCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC AATCTCAGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCAC CCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGG GCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	266	0.0038	786	c.-1- others(801): Show c.-1-1634_-1-1633insAGGGTGGGATGAGCCGAGATGGCGCCACTG CACTCCAGCCCGGGTGACAGGGTGGGATGAGCCGAGATCGTGCCACTGCA CTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATTGTGCCACTGCACTCC AGCCCGGGTGACGGTGAGATGAGCCGAGATGGCGCCACTGCACTCCAGCC CGGGTGACGGTGGGATGAGCCGAGATCGCGCCACTGCACTCCAGCCCGGG TGACGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGAC GGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACGGTG GGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACGGTGGGAT GAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGATGGTGGGATGAGC TGAGATTGTGCCACTGCACTCCAGCCCGGGTGACGGTGGGATCAGCCGAG ATCGTGCCACTGCACTCCAGCCTGGGTGACGGTGAGATGAGCTGAGATCG CGCCACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATGGCGCC ACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATGGCGCCACTG CACTCCAGCCCGGGTGACGGTGGGATGAGCTGAGATCGCGCCACTGCACT CCAGCCCGGGTGACGGTGAGATGAGCTGAGATCGCGCCACTGCACTCCAG CCCGGGTGACGGTGGGATGAGCCGAGATCGTGCCACTGCACTCCAGCCCG GGTGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CCDC88C_chr14_91266323_91422820	91293336	T T	TCACCTTC others(779): Show TCACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCCGTCCTCACCT GCCACGGTCCACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCTGT CCCCTCGCCTGCCACAGCTGACCTTCCTGTCCCCTCGCCTGCCACGGCCC ACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCT GCCACAGCCCACCTTCCCGTCCTCACCTGCCACGGTCCACCTTCCCATCC TCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCAT CCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCTAC CTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCACCTGC CACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCC CCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCCCAC CTTCCTGTCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGC CACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0117 a0004c0008t0002g0117	1	248	0.0040	786	c.411 others(803): Show c.4112+836_4112+837insGGCTGTGGCAGGCGAGGGGGCAGGAAGG TGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGG GACAGGAAGGTGGGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGG CAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGG TGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGG GACAGGAAGGTAGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGG CAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCAGGTGAGGATGGGAAGGTGGACCGTGGCAGGTGAGGACGGGAAGGTG GGCTGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGGGA CAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTCAGCTGTGGCA GGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGGGACAGGAAGGTG GACCGTGGCAGGTGAGGACGGGAAGGTGGGCTGTGGCAGGTGAGGGGACA GGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(779): Show ACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCAC CTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGA GCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTC CTGTCCCCTCACCTGCCACGGCCTACCTTCCTGTCCCCTCACCTGCCACG GCCCACCTTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTC GCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTC CTGTCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACA GCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTC GCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTC CTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACG GCCTACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCGTCCTCAC CTGCCACGGCCCACCTTCCCATCCTCACCTGCCACGGCCTACCTTCCTGT CCCCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0097 a0003c0003t0002g0097	1	229	0.0044	786	c.411 others(803): Show c.4112+674_4112+675insCGAGGGGACAGGAAGGTGGGCCGTGGCA GGTGAGGGGACAGGAAGGTAGGCCGTGGCAGGTGAGGATGGGAAGGTGGG CCGTGGCAGGTGAGGACGGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGG AAGGTAGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGCG AGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCT GTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGG AAGGTGGGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCG AGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCT GTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGG AAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTAGGCCGTGGCAGGTG AGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGG AAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCT GTGGCGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(779): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp1 NA18966.hp2 others(3): Show HG00609.hp1 HG02056.hp1 NA18966.hp2 NA18971.hp1 NA18995.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0042 a0001c0001 a0001c0014 a0002c0042	a0001c0001t0002 a0001c0014t0002 a0002c0042t0002 a0001c0001t0002 a0001c0014t0002 a0002c0042t0002	a0001c0001t0002g0122 a0001c0001t0002g0165 a0001c0014t0002g0066 others(3): Show a0001c0001t0002g0122 a0001c0001t0002g0165 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161 a0002c0042t0002g0234	6	182	0.0330	786	c.925 others(801): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(779): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01167.hp2 others(4): Show HG00099.hp2 HG00280.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 NA19057.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0041	a0001c0001t0027 a0001c0003t0001 a0001c0003t0003 others(2): Show a0001c0001t0027 a0001c0003t0001 a0001c0003t0003 a0001c0004t0018 a0002c0041t0002	a0001c0001t0027g0210 a0001c0003t0001g0188 a0001c0003t0001g0206 others(4): Show a0001c0001t0027g0210 a0001c0003t0001g0188 a0001c0003t0001g0206 a0001c0003t0003g0201 a0001c0004t0018g0029 a0001c0004t0018g0208 a0002c0041t0002g0164	7	183	0.0383	786	c.925 others(801): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CROCC2_chr2_240901336_240998311	240924061	G G	GCCCCCCA others(779): Show GCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACC CAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTGA CCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACAC TAACCCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCC CCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCC CCCCACACTAACCCGGCCCCCCACACTAACGCAGTCCCCCACACTAACCC AGTCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCAACACTAA CCCAGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACT GACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACA CTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCCGGT CCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCG GCCCCCCACACTGACCCGGCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0147 a0012c0013t0001g0147	1	282	0.0035	786	c.488 others(803): Show c.488+1421_488+1422insCACACTAACCCAGCCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACC CGGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGCCCCCCACACT AACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACA CTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC CACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACGCAG TCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCACACTGACC CGGCCCCCAACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCC CCCACACTGACCCGGTCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCC AGTCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1297569	G G	GACCCCTA others(779): Show GACCCCTACACTCTCCTACCCATGACCCGTGGCGGAACTGTACAGTCCCC TACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGAGGAACCCTAC AGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGGAGTA ACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCC TGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCA TGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTC CTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTA CAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACG ACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCT ACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACA GTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAA CCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCT GGCAGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCAT GACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACC CTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAGTCTCCTACCC ATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0130 a0001c0007t0002g0130	1	117	0.0085	786	c.810 others(803): Show c.810+2122_810+2123insCTCTCCTACCCATGACCCGTGGCGGAAC TGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTG GAGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATG ACCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCT ACCCATGACCCCTGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGT CCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACC CTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGG CGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGA CCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTA CCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACAG TCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGC CGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTAC AGTCTCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACAA CCCCTACA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297569	G G	GACCCCTA others(779): Show GACCCCTACACTCTCCTACCCATGACCCGTGGCGGAACTGTACAGTCCCC TACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGAGGAACCCTAC AGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGGAGTA ACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCC TGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCA TGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTC CTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTA CACTCTCCTACCCATGACCCGTGGCGGAACTGTACAGTCCCCTACTCACG ACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCT ACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACA GTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAA CCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCT GGCAGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCAT GACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACC CTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAGTCTCCTACCC ATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	117	0.0085	786	c.810 others(803): Show c.810+2122_810+2123insCTCTCCTACCCATGACCCGTGGCGGAAC TGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTG GAGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATG ACCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCT ACCCATGACCCCTGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACACTCTCCTACCCATGACCCGTGGCGGAACTGTACAGT CCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACC CTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGG CGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGA CCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTA CCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACAG TCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGC CGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTAC AGTCTCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACAA CCCCTACA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar

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