Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CCDC183_chr9_136791338_136812741	136803232	A A	AGCCCTCT others(463): Show AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCAGGGCGG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	398	0.0025	470	c.666 others(485): Show c.666+495_666+496insCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCAGGGCGGGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC		CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
CDH4_chr20_61247261_61945617	61944146	A A	ATGAGGAG others(463): Show ATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACG ATGAGGAGCACTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0022 a0002c0002t0005g0022	1	106	0.0094	470	c.72 others(481): Show c.7203_*7204insTGAGGAGCATTGCGACTGTATGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCTTCTCACTGACGATGAGGAGCACTGCGACTGTATGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					3530		chr20	TogoVar
CEP72_chr5_607340_658553	628753	A A	AGTCCCTG others(463): Show AGTCCCTGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTC TGGAGAACTCAGGTCGCAGTCCCTGGGGAGTGTTCCCAGGACCCAGCCCC CTTCTTTGTGCAGCTTCTGGAGAACTCTGGTTGCCGTCCCCGGGGAGTGT TCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTG CCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTT CTGGAGAACTCAGGTCGCAGTCCCCGGGGAGTGTTCCCAGGACCCAGCCC CCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCCAGGGAGTG GCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCGTTCTGGAGAACTCAGGT TGCCGTCCCTGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGC TTCTGGAGAACTCAGGTCACC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	91	0.0110	470	c.512 others(487): Show c.512+4179_512+4180insTGGGGAGTGTTCCCAGGACCCAGCCCCC TTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCTGGGGAGTGTT CCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCTGGTTGC CGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTC TGGAGAACTCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCC CTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCCGGGGAGTGT TCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTG CCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCGT TCTGGAGAACTCAGGTTGCCGTCCCTGGGGAGTGGCCCCAGGACCCAGCC CCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCACCGTCCC		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP276_chr1_109100951_109117747	109108012	T T	TGTGTTGG others(463): Show TGTGTTGGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTCAAGGGCAATT CACATTTATTTCCTGAGCATGCTGACTAAACATACTTCAAACACAGCAGA AGGTAAAGAGTCTGTTTTGTAAGTAAAGCCGTTTCTTGCCAACAGCGAAT GGTGGTCCATGAAGAGTACCTTGAGCATCATCTTCAAGCTGAGGCTCCAG CTCTGGGCAAACAGCTGCTGGGTGGACCTGGTCCTTCTGGCCTGGATGGG GGCCTCCAAGGAACTACTTGTTCTCATACTTGTGCTTGATGTGTTTCCAC AGCTTCCCCTCGTTGATGTGGTCGTAGATAGCGTCCGCGCCTTGATCGAA GGCGCGCTCGAAGAACATGACGCCCACGATGATGGTGAGGGCGAAGGTGG AGGTCCTGCGGAACAGCAGGGAGTACAATTTCGAAGTCAACGTCGCGGCC GCCATGTTTCTTCACAGTCCC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01934.hp1 HG03098.hp2 NA20752.hp1 HG01934.hp1 HG03098.hp2 NA20752.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0019 a0004c0005t0001g0019	3	404	0.0074	470	c.106 others(477): Show c.106_107insGGGACTGTGAAGAAACATGGCGGCCGCGACGTTGACTT CGAAATTGTACTCCCTGCTGTTCCGCAGGACCTCCACCTTCGCCCTCACC ATCATCGTGGGCGTCATGTTCTTCGAGCGCGCCTTCGATCAAGGCGCGGA CGCTATCTACGACCACATCAACGAGGGGAAGCTGTGGAAACACATCAAGC ACAAGTATGAGAACAAGTAGTTCCTTGGAGGCCCCCATCCAGGCCAGAAG GACCAGGTCCACCCAGCAGCTGTTTGCCCAGAGCTGGAGCCTCAGCTTGA AGATGATGCTCAAGGTACTCTTCATGGACCACCATTCGCTGTTGGCAAGA AACGGCTTTACTTACAAAACAGACTCTTTACCTTCTGCTGTGTTTGAAGT ATGTTTAGTCAGCATGCTCAGGAAATAAATGTGAATTGCCCTTGAAAAAA AAAAAAAAAAAAAAAAAAAAAGAACCCAACAC	p.His others(4): Show p.His36fs	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding	2/5	174/655	106/510	36/169			chr1	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(463): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACGTGTGTATA TACACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	372	0.0027	470	c.894 others(485): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACAC GTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATAT		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20						chr3	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(463): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATACATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATATCATATATTCATATATATC ATATATATTCATATATATCATATATTCATATATATCATATATATTCATAT ATATATCATATATATTCATATATATATCATATATATTCATATATATATCA TATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03688.hp2 HG04184.hp2 HG01099.hp2 HG03688.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0002 a0001c0002t0008 a0001c0012t0001 a0001c0002t0002 a0001c0002t0008 a0001c0012t0001	a0001c0002t0002g0051 a0001c0002t0008g0057 a0001c0012t0001g0056 a0001c0002t0002g0051 a0001c0002t0008g0057 a0001c0012t0001g0056	3	182	0.0165	470	c.267 others(487): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATACATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATATCATATATTCATATATATCAT ATATATTCATATATATCATATATTCATATATATCATATATATTCATATAT ATATCATATATATTCATATATATATCATATATATTCATATATATATCATA TATATTCATATATATCATATATATTCATATATATATTCATAT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(463): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATATTCATAT ATATATCATATATATTCATATATATATCATATATATTCATATATATATCA TATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0146 a0001c0008t0004g0146	1	182	0.0055	470	c.267 others(487): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATATTCATATAT ATATCATATATATTCATATATATATCATATATATTCATATATATATCATA TATATTCATATATATCATATATATTCATATATATATTCATAT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
CRTC3_chr15_90524923_90650345	90647359	A A	ACACCCCT others(463): Show ACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTC CTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCT CTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCA CCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCT CCTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCC TCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTC CACACTCATCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACAC CCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTC CTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACC CCTCCCCCTCCTCACCCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	276	0.0036	470	c.52 others(481): Show c.5219_*5220insCACCCCTCCTCCTCCTCCACACCCCTCCTCCTCC TCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTC CTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCT CCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTC CTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCT TCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCC ACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATC CCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCT TCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTC CATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTC		CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding					2015		chr15	TogoVar
CSF2RA_chrX_1263814_1314935	1284660	A A	ATTTTTTT others(463): Show ATTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTC TGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAG AAATACACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTAT AGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTT TTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCC CACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCA AGCTAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGT TGCCAAGACTAGTTTTTGATT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	159	0.0063	470	c.77- others(485): Show c.77-1096_77-1095insTTTGAGATGGAGTCTTACTCTGTCTCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGG GATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAA TACACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTATAGA GGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTT TTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCAC TCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGC TAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGC CAAGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTTTT		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(463): Show GTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTA CCCGCCCACCACTATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	396	0.0025	470	c.513 others(487): Show c.513-1023_513-1022insTCACCACCACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19						chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(463): Show GCTATAACCACCACCACCACCACCACCACTATAACCACCATCATCATCAC CACCACTACCACTACTATAACCATCACCACCATCACTACTATAACCACCA CCACCACCACCACCACCACTATAATCATTACCACTATAACCACCACCACC ACCACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCAC TACCACTATGATAACCATCACCAACACCACTATAACCACCAATGCCAAGA AGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAGGACCA ACCAGGACCAACCAGGACCAACACCACCACCACTACTACCACTACTATAA CCATCACCACCATCACTGCTATAATCACCACCACCACCACCATCACTATA ACCATCACCATCATCACCACTATAACCACCACTACCACCACCACCACCAG TTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0096 a0001c0001t0022g0096	1	230	0.0044	470	c.724 others(489): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGGTTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTG GTTATAGTAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGAT GATGATGGTGGTTATAGTGGTGGTGGTGGTGGTGGTGGTTATAG		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DNAH10_chr12_123757301_123940714	123911671	T T	TGGGGGAG others(463): Show TGGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGG GGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGG TCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTCTGT CCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGTTCTGTCCTGGGG GGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCT GTCCTGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCC TGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGGTCTGTCCTGA GGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGG GGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTC TGTCCTGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0029 a0029	a0029c0070 a0029c0070	a0029c0070t0001 a0029c0070t0001	a0029c0070t0001g0152 a0029c0070t0001g0152	1	170	0.0059	470	c.101 others(491): Show c.10134+1004_10134+1005insAGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGG AGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGG GTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGT CCTGGGGTTCTGTCCTGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGG GTTTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTTT GTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCC TGGGGGGGGGTCTGTCCTGAGGGGTCTGTCCTGGGGGGGGGGTCTGTCCT GGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGG GGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGG		DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78					INFO_REALIGN_3_PRIME	chr12	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATATGTGT others(463): Show ATATGTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATAT ACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATGTTTACACATATATAT GTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATGTAAATATACCTATGTGTATGTTTACACATATATGTGTAA ATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTGTAAATATACCTATATGTTTACACATATATGT GTAAATATACCTATATGTTTACACATATATATGTGTAAATATACCTATGT GTATGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01358.hp2 HG01934.hp2 others(2): Show HG00621.hp1 HG01358.hp2 HG01934.hp2 NA18992.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0022 a0001c0001t0010 a0001c0001t0022	a0001c0001t0010g0381 a0001c0001t0010g0382 a0001c0001t0010g0383 others(2): Show a0001c0001t0010g0381 a0001c0001t0010g0382 a0001c0001t0010g0383 a0001c0001t0010g0385 a0001c0001t0022g0384	5	398	0.0126	470	c.477 others(489): Show c.477+47590_477+47591insATGTGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATATTTACACATATATAT GTAAATATACCTATGTGTATATTTACACATATATATGTAAATATACCTAT GTGTATGTTTACACATATATATGTAAATATACCTATGTGTATGTTTACAC ATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGT AAATATACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGT ATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATAC CTATATGTTTACACATATATGTGTAAATATACCTATATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGT		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
EHMT1_chr9_137614005_137841127	137810248	C C	CGTGGGTG others(463): Show CGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGT CGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTCGG TGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTCGGTGA TGGGTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTCGGTGATGG GTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTCGGTGATGGGTC CGGAGGCGGTTCCGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGG AGGCGGTTCCGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGG CGGTTCCGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGG TTCCGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTC CGATGCCGCCCCTCGTGGACT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0128 a0001c0005t0001g0128	1	170	0.0059	470	c.271 others(489): Show c.2713-1211_2713-1210insGGGTGATGGGTCCGGAGGCGGTTCCG ATGCCGCCCCGCGTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCCGATG CCGCCCCGCGTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCCGATGCCG CCCCGCGTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCC CGCGTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGC GTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTG GACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGGAC TGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGGACTGT GGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGGACTGTGGG TGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGGACTGT		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403327	G G	GAGAAAGG others(463): Show GAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAA GGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGG ACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACA GGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGG TTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCC CAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAG GGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGA GCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGAGCA AGGGGTGGGGTTTGCCGGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	412	0.0024	470	c.120 others(487): Show c.1209-441_1209-440insTCCCCGGCAAACCCCACCCCTTGCTCCC TGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGG GACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGAC CCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCT GTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTC CCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCT TTCTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTC TTCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCC CCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCC GGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCT		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9						chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403390	C C	CCCAGGGA others(463): Show CCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTTCC AGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCAGG GAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTTCCAGGGAG CAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCAGGGAGCAA GGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGG GTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTG GGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGG TTTGCCGGGGAAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTT GCCGGGGAAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCC GGGGAAGAAAGGGACAGGGTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	412	0.0024	470	c.120 others(487): Show c.1209-504_1209-503insAACCCTGTCCCTTTCTTCCCCGGCAAAC CCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCC ACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACC CCTTGCTCCCTGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCT TGCTCCCTGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGC TCCCTGGAACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCC CTGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTG GAACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAA CCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCC TGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGG		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9						chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403393	A A	AGGGAGCA others(463): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGG GAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTCCCAGGGAG CAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAA GGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTCCCAGGGAGCAAGGG GTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTG GGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGG TTTGCCGGGGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTT GCCGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCC GGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGG GGAGAAAGGGACAGGGTTCCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	412	0.0024	470	c.120 others(487): Show c.1209-507_1209-506insAGGAACCCTGTCCCTTTCTCCCCCGGCA AACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTCCCCGGCAAAC CCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCC ACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCCCCCGGCAAACCCCACC CCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCT TGCTCCCTGGGACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGC TCCCTGGGACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCC CTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTG GGACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCC		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9						chr9	TogoVar
EXD3_chr9_137301896_137428162	137329311	T T	TACACAGG others(463): Show TACACAGGGTCACACGGGACTACACGGGACTACAGGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGACTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGGCTACACGGGACTACACAGGGTCACACGGGAC TACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGAC TACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGAC TACACGGGACTACACGGGACTACACAGGGTCACACGGGACTACACGGGAC TACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGAC TACACGGGGCTACACGGGACTACACAGGGTCACACGGGACTACACGGGAC TACACGGGACTACACGGGGTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0014 a0004c0009t0001g0014	1	82	0.0122	470	c.199 others(489): Show c.1999-5169_1999-5168insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGTCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCCTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGT		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21						chr9	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(463): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCTCAAGT TCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18949.hp2 NA18953.hp2 others(1): Show HG02080.hp1 NA18949.hp2 NA18953.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0099	4	346	0.0116	470	c.-76 others(487): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCTCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG		FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(463): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCTCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	346	0.0029	470	c.-76 others(487): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCTCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG		FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(463): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02886.hp1 others(2): Show HG02280.hp1 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0315 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0315 a0001c0001t0001g0316	5	346	0.0145	470	c.-76 others(487): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG		FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
FLT3_chr13_27998274_28105576	27999036	C C	CATATAAA others(463): Show CATATAAATATATATGTATATAAATATATATGTATGTATATTATATACAT ATAAATATATATGTATATAATATATATGTATGTATATTATATACATATAA ATATATATATTTATATACATATAAATATATATTTATATACATATAAATAT ATATATTTATATACATATAAATATATATTTACATACATATAAATATATAT TTACAAACATATAAATATATATATTTATATACATATAATACATATACATA TATACATATAAATATATATTTATATATATAAATATATATATTTATATATA TAAATATATATATTTATATATATAAATATATATATTTATATATATAAATA TATATATTTATATATATATAAATATATATATATTTATATATATATAAATA TATATATTTATATATATATACATATAAATATATATTTATATACATATAAA TATATAATTATATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0248 a0003c0003t0001g0248	1	292	0.0034	470	c.50 others(481): Show c.5015_*5016insTTATATGTATATAATTATATATTTATATGTATAT AAATATATATTTATATGTATATATATATAAATATATATATTTATATATAT ATAAATATATATATATTTATATATATATAAATATATATATTTATATATAT AAATATATATATTTATATATATAAATATATATATTTATATATATAAATAT ATATATTTATATATATAAATATATATTTATATGTATATATGTATATGTAT TATATGTATATAAATATATATATTTATATGTTTGTAAATATATATTTATA TGTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATTTATATGTATATAAATATATATATTTATATGTATATA ATATACATACATATATATTATATACATATATATTTATATGTATATAATAT ACATACATATATATTTATATACATATATATTTATAT		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4237		chr13	TogoVar
GOLGA3_chr12_132763914_132833869	132776582	C C	CTCCTTCC others(463): Show CTCCTTCCTCCCTGCTGCTCCCGCCTGTACCCAGAGCCTCACACAGGTAC CCGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTCCCTGCTGCTCCCG CCTGTACCCAGCGCCTCACACACAGGTACCCGCAGCAGCTGCTGTAGCCC CTCCAGCTCCTTCCTCCCTGCTGCTCCCGCCTGTACCCAGCGCCTCACAC ACAGGTACCCGCAGCAGCTGCTGTAGCCCCTCCAGTTCCTTCCTCCCTGC TGCTCCCGCCTGTGCCCAGCGCCTCACACACAGGTACCTGCAGCAGCTGC TGTAGCCCCTCCAGCTCCTTCCTCCCTGCTGCTCCCGCCTGTACCCAGAG CCTCACACAGGTACCCGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCT CCCTGCTGCTCCCGCCTGTACCCAGCGCCTCACACACAGGTACCCACAGC AGCTGCTGTAGCCCCTCCAGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	308	0.0033	470	c.397 others(485): Show c.3978+51_3978+52insACTGGAGGGGCTACAGCAGCTGCTGTGGGT ACCTGTGTGTGAGGCGCTGGGTACAGGCGGGAGCAGCAGGGAGGAAGGAG CTGGAGGGGCTACAGCAGCTGCTGCGGGTACCTGTGTGAGGCTCTGGGTA CAGGCGGGAGCAGCAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCT GCAGGTACCTGTGTGTGAGGCGCTGGGCACAGGCGGGAGCAGCAGGGAGG AAGGAACTGGAGGGGCTACAGCAGCTGCTGCGGGTACCTGTGTGTGAGGC GCTGGGTACAGGCGGGAGCAGCAGGGAGGAAGGAGCTGGAGGGGCTACAG CAGCTGCTGCGGGTACCTGTGTGTGAGGCGCTGGGTACAGGCGGGAGCAG CAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCGGGTACCTGTG TGAGGCTCTGGGTACAGGCGGGAGCAGCAGGGAGGAAGGA		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	21/23						chr12	TogoVar
GPC5_chr13_91393621_92872237	92538792	T T	TCATTCTT others(463): Show TCATTCTTTTCGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTTATCCAGCCTATCACTGATGGGCATTTTGGTTGGTTCCAAGTCTT TGCTATTGTGAATAGTGCTGCAATAAACATAAATGTGTATATGTCTTTAT AGTAGAGTGATTTATAATCCTTTGTGTATATACTTTATATATACATATAT ATATACACCTTATATGTATATATATATATACACCTTATATATATATACAC CTTATATATATATACACCATATATATACACACCTTATATATATATATACA CACCTTATATATATATATACCTTGTATATATATATATACACCATATATAT ATACCTTGTATATATATATATACACCATATATATATACCTTGTATATATA TATACACCATATATATATACCTTGTATATATATATACACCATATATATAT ACCTTGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	42	0.0238	470	c.156 others(493): Show c.1562-327487_1562-327486insTCTTTTCGTGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTTATCCAGCCTATCACTGATGG GCATTTTGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAA ACATAAATGTGTATATGTCTTTATAGTAGAGTGATTTATAATCCTTTGTG TATATACTTTATATATACATATATATATACACCTTATATGTATATATATA TATACACCTTATATATATATACACCTTATATATATATACACCATATATAT ACACACCTTATATATATATATACACACCTTATATATATATATACCTTGTA TATATATATATACACCATATATATATACCTTGTATATATATATATACACC ATATATATATACCTTGTATATATATATACACCATATATATATACCTTGTA TATATATATACACCATATATATATACCTTGTATATATATATACACCAT		GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATA others(463): Show CATATATATGTACACATATATATACATATATATGTACACATATATATACA TATATATGTACACATATATATACATATATATGTACACATATATATACATA TATATGTACACATATATATATACATATATATGTACACATATATATATACA TATATATGTACACATATATATACATATATATGTACACATATATATATACA TATATATGTACACATATATATATACATATATATGTACACATATATATATA CATATATATGTACACATATATATATACATATATATGTACACATATATATA CATATATATGTACACATATATATACATATATATGTACACATATATATACA TATATATGTACACATATATATATACATATATATGTACACATATATATATA CATATATATGTACACATATATATATACATATATATGTACACATATATATA TACATATATATGTACACATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0091 a0004c0004t0002g0091	1	418	0.0024	470	c.167 others(487): Show c.1678-384_1678-383insATATGTACACATATATATACATATATAT GTACACATATATATACATATATATGTACACATATATATACATATATATGT ACACATATATATACATATATATGTACACATATATATATACATATATATGT ACACATATATATATACATATATATGTACACATATATATACATATATATGT ACACATATATATATACATATATATGTACACATATATATATACATATATAT GTACACATATATATATACATATATATGTACACATATATATATACATATAT ATGTACACATATATATACATATATATGTACACATATATATACATATATAT GTACACATATATATACATATATATGTACACATATATATATACATATATAT GTACACATATATATATACATATATATGTACACATATATATATACATATAT ATGTACACATATATATATACATATATATGTACACATATATAT		GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CACATATA others(463): Show CACATATATATGTACACATATATATACACATATATATGTACACATATATA TACACATATATATGTACACATATATATACACATATATATGTACACATATA TATACACATATATATGTACACATATATATACACATATATATGTACACATA TATATACACATATATATGTACACATATATGTACACATATATATGTACACA TATATGTACACATATATATGTACACATATATGTACACATATATATGTACA CATATATGTACACATATATATGTACACATATATGTACACATATATATGTA CACATATATGTACACATATATATGTACACATATATGTACACATATATATG TACACATATATGTACACATATATATGTACATATATATGTACACATATATA TGTACATATATATGTACACATATATATATACATATATATATACATATATA TGTACACATATATATATACAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0314 a0001c0001t0017g0314	1	418	0.0024	470	c.167 others(485): Show c.1678-75_1678-74insCATATATATGTACACATATATATACACATA TATATGTACACATATATATACACATATATATGTACACATATATATACACA TATATATGTACACATATATATACACATATATATGTACACATATATATACA CATATATATGTACACATATATATACACATATATATGTACACATATATGTA CACATATATATGTACACATATATGTACACATATATATGTACACATATATG TACACATATATATGTACACATATATGTACACATATATATGTACACATATA TGTACACATATATATGTACACATATATGTACACATATATATGTACACATA TATGTACACATATATATGTACACATATATGTACACATATATATGTACATA TATATGTACACATATATATGTACATATATATGTACACATATATATATACA TATATATATACATATATATGTACACATATATATATACATA		GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(463): Show CATATATGTATATATGGAAAATATATACATATATGTATATATGGAACATA TATACATATATGGAACCAATACATACATGGAACATATATATGTGGAACCA ATACATACACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATCTGGAACCAATACATATACGG AACATATATATCTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	323	0.0031	470	c.-36 others(481): Show c.-3670_-3669insATATATGTATATATGGAAAATATATACATATATG TATATATGGAACATATATACATATATGGAACCAATACATACATGGAACAT ATATATGTGGAACCAATACATACACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATACGGAACATATATATCTGGAA CCAATACATATACGGAACATATATATCTGGAACCAATACATATACGGAAC ATATATATGTGGAACCAATACATATACGGAACATAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					3583		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132630701	T T	TCTGCAAG others(463): Show TCTGCAAGGGGAAGGCGTCTAGGGGTCTTTGGCAGCACAGCTGAGCAGAG CACGCAGTGCGAACTCTTGGGATCCTGTGAAGCCCAGGAAGGGAGGGGGA GACAGAGGTGTTTGAGGAGCCTGTGGAGCCAAGGGGCAAGCTTTAGGGGG TGGGGGCCTTGCGGAAAGGGGGAACTGGGAAGGTTGGAGGGGAGAGAGGA TCATCAGGGCGCTGAGACGGGGAGCCAGGAGCTGAGTTGGTGGCTTTATG GGGCTCTTCATACTTTAGGTCCCATTGCCCTGCTCCAGGTGGGCTGAAGG GTCAGGGCTCCCTTCGGTCCCTGCGTCATCCCCTGGGAGCTTGCCATGGC CAGAGTGAGAAAGGGCTGTCGTGAAAATCTGCATGGCGGCTGGCCTTTCG AAAGAGGCTTCCAGAAGGTGTTCTTTTATGTGATGGCTGCGAGGCCGCAG TTGCTATTGTCGTCATGGAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03540.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0002g0082 a0001c0003t0001g0080 a0001c0003t0002g0081 a0001c0001t0002g0082 a0001c0003t0001g0080 a0001c0003t0002g0081	3	204	0.0147	470	c.118 others(489): Show c.118-15166_118-15165insTGCAAGGGGAAGGCGTCTAGGGGTCT TTGGCAGCACAGCTGAGCAGAGCACGCAGTGCGAACTCTTGGGATCCTGT GAAGCCCAGGAAGGGAGGGGGAGACAGAGGTGTTTGAGGAGCCTGTGGAG CCAAGGGGCAAGCTTTAGGGGGTGGGGGCCTTGCGGAAAGGGGGAACTGG GAAGGTTGGAGGGGAGAGAGGATCATCAGGGCGCTGAGACGGGGAGCCAG GAGCTGAGTTGGTGGCTTTATGGGGCTCTTCATACTTTAGGTCCCATTGC CCTGCTCCAGGTGGGCTGAAGGGTCAGGGCTCCCTTCGGTCCCTGCGTCA TCCCCTGGGAGCTTGCCATGGCCAGAGTGAGAAAGGGCTGTCGTGAAAAT CTGCATGGCGGCTGGCCTTTCGAAAGAGGCTTCCAGAAGGTGTTCTTTTA TGTGATGGCTGCGAGGCCGCAGTTGCTATTGTCGTCATGGAAGC		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132630701	T T	TCTGCAAG others(463): Show TCTGCAAGGGGAAGGCGTCTAGGGGTCTTTGGCAGCACAGCTGAGCAGAG CACGCAGTGCGAACTCTTGGGATCCTGTGAAGCCCAGGAAGGGAGGGGGA GACAGAGGTGTTTGAGGAGCCTGTGGAGCCAAGGGGCAAGCTTTAGTGGG TGGGGGCCTTGCGGAAAGGGGGAACTGGGAAGGTTGGAGGGGAGAGAGGA TCATCAGGGCGCTGAGACGGGGAGCCAGGAGCTGAGTTGGTGGCTTTATG GGGCTCTTCATACTTTAGGTCCCATTGCCCTGCTCCAGGTGGGCTGAAGG GTCAGGGCTCCCTTCGGTCCCTGCGTCATCCCCTGGGAGCTTGCCATGGC CAGAGTGAGAAAGGGCTGTCGTGAAAATCTGCATGGCGGCTGGCCTTTCG AAAGAGGCTTCCAGAAGGTGTTCTTTTATGTGATGGCTGCGAGGCCGCAG TTGCTATTGTCGTCATGGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG02109.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0001g0185 a0001c0005t0001g0186	2	204	0.0098	470	c.118 others(489): Show c.118-15166_118-15165insTGCAAGGGGAAGGCGTCTAGGGGTCT TTGGCAGCACAGCTGAGCAGAGCACGCAGTGCGAACTCTTGGGATCCTGT GAAGCCCAGGAAGGGAGGGGGAGACAGAGGTGTTTGAGGAGCCTGTGGAG CCAAGGGGCAAGCTTTAGTGGGTGGGGGCCTTGCGGAAAGGGGGAACTGG GAAGGTTGGAGGGGAGAGAGGATCATCAGGGCGCTGAGACGGGGAGCCAG GAGCTGAGTTGGTGGCTTTATGGGGCTCTTCATACTTTAGGTCCCATTGC CCTGCTCCAGGTGGGCTGAAGGGTCAGGGCTCCCTTCGGTCCCTGCGTCA TCCCCTGGGAGCTTGCCATGGCCAGAGTGAGAAAGGGCTGTCGTGAAAAT CTGCATGGCGGCTGGCCTTTCGAAAGAGGCTTCCAGAAGGTGTTCTTTTA TGTGATGGCTGCGAGGCCGCAGTTGCTATTGTCGTCATGGAAGC		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(463): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA21309.hp2 HG02257.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0197 a0001c0003t0003g0204 a0001c0001t0003g0197 a0001c0003t0003g0204	2	204	0.0098	470	c.978 others(487): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAA ACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(463): Show CTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCT GTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCCTCTCCCCCTCCCCCTC TCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCT CCCCCCTCTCTCTCCCCCTCCCCTCCCCCCCTCTCCCTCCCCCCTCTCCC CTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCATC CCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCC TTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCCTTCCCT CTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTTCCCTCTCTCT CTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	158	0.0063	470	c.11 others(491): Show c.1103+4110_*1103+4111insCCTCCCCCTCTCTCTCCCCCTCCC CCCTCTCTGTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCCTCTCCCCC TCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCC CCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCCTCTCCCTCCCC CCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCTCCCCCTCC CCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCT CCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC CCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCC CTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTTCC CTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(463): Show CTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCT GTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTC TCCCCCTCCCCCTCCCCCCTACCCCTCCCCCCTCTCTCTCCCCCTCCCCT CCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCATC CCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCC TTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCTTCCCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCCTTCCCTCTCTCT CTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0035 a0004c0035	a0004c0035t0005 a0004c0035t0005	a0004c0035t0005g0020 a0004c0035t0005g0020	1	158	0.0063	470	c.11 others(491): Show c.1103+4110_*1103+4111insCCTCCCCCTCTCTCTCCCCCTCCC CCCTCTCTGTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTC CCCCTCTCTCCCCCTCCCCCTCCCCCCTACCCCTCCCCCCTCTCTCTCCC CCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCCCTCCCCC CTCTCCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCTCCCCCTCC CCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCT CCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC CTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCC TCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCCTTCC CTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KATNA1_chr6_149589873_149653714	149634275	A A	AAAAATAA others(463): Show AAAAATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAACA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	296	0.0034	470	c.163 others(487): Show c.163-1360_163-1359insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATT TTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATTTT		KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	2/10						chr6	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(463): Show TAGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTATCCATGTGTGT GTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTGTGTGTGTGT ATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGTGCATGT ATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCATGTGTGTATATG TGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTGTATTTGTG CGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTGTATGCATG TGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGTGCATGTGTA TATATGTCTATGTACTTGTGTGTATGTGTATGCATGTGTGTACATGTATG TATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTGTGTATGTGTG TAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03041.hp2 HG03195.hp1 others(1): Show HG02897.hp2 HG03041.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0102 a0001c0001t0103 others(1): Show a0001c0001t0090 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104	a0001c0001t0090g0157 a0001c0001t0102g0107 a0001c0001t0103g0049 others(1): Show a0001c0001t0090g0157 a0001c0001t0102g0107 a0001c0001t0103g0049 a0001c0001t0104g0045	4	198	0.0202	470	c.946 others(487): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACATATATACACAT GCACACATACACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACACACATATAC ACACATGCAACACAAATACACACAGGTATACACACATGCCCATACATGCA CACACATGCATACACATGCACACACAAATACATATACGTGTATACACACA CACACATGCACGCACGTGCATACACATGCACACACAAATATACACACACA TGGATACACATGCACACATATACACACACACACACACACACT		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3						chr21	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(463): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGC GGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCG GGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCG GGAACGGCGCTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02735.hp2 HG01070.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0033 a0001c0001t0007g0117 a0001c0001t0007g0033 a0001c0001t0007g0117	2	375	0.0053	470	c.317 others(487): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
LARS1_chr5_146108034_146187650	146174505	T T	TATATATA others(463): Show TATATATATCCATATATATATATCCATATATATATCCATATATATATATC CATATATATATCCATATATATATCCATATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATG GATATATATATATCCATATATATCTATCCATATATATATCCATATATATC TATCCATATATATATCCATATATCTATCCATATATATATCCATATATATA TATCCATATATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0271 a0002c0002t0002g0271	1	284	0.0035	470	c.126 others(487): Show c.126-1732_126-1731insGGATATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATATATGGATATATATAT ATGGATATATATATGGATAGATATATGGATATATATATGGATAGATATAT ATGGATATATATATGGATAGATATATATGGATATATATATATCCATATAT ATGGATATATATATATGGATATATATATGGATATATATATATGGATATAT ATATGGATATATATATATGGATATATATATGGATATATATATGGATATAT ATATATGGATATATATATGGATATATATATATGGATATATAT		LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31						chr5	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(463): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTATATATATT TATATATTTATATGTATTTATACATATATATTTATATGTATTTATATATA TTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02257.hp1 others(3): Show HG01109.hp1 HG01884.hp2 HG02257.hp1 HG02451.hp1 HG03225.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0098 a0001c0001t0001g0141 a0001c0001t0001g0204 others(3): Show a0001c0001t0001g0098 a0001c0001t0001g0141 a0001c0001t0001g0204 a0001c0001t0001g0248 a0001c0001t0001g0254 a0004c0006t0001g0245	6	260	0.0231	470	c.125 others(487): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATTT ATATATTTATGTATAAATTTATATATATTTATATGTATTTATATATATAT TTATATGTATTTATATATATTTATATATTTATATGTATTTATACATATAT ATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATA TATTTATATATATATTTATATATATTTATATATATATTTATA		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6						chr10	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(463): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTTTATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTATATATATT TATATATTTATATGTATTTATACATATATATTTATATGTATTTATATATA TTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG06807.hp2 HG02257.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0138 a0001c0001t0001g0139	2	260	0.0077	470	c.125 others(487): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATTTATGTATATATTTTTATATATTT ATATATTTATGTATAAATTTATATATATTTATATGTATTTATATATATAT TTATATGTATTTATATATATTTATATATTTATATGTATTTATACATATAT ATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATA TATTTATATATATATTTATATATATTTATATATATATTTATA		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6						chr10	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(463): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03831.hp2 NA18612.hp2 others(3): Show HG02145.hp1 HG03831.hp2 NA18612.hp2 NA18947.hp1 NA18982.hp2 NA19010.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0008 a0001c0046 others(1): Show a0001c0003 a0001c0008 a0001c0046 a0003c0014	a0001c0003t0001 a0001c0008t0001 a0001c0046t0001 others(1): Show a0001c0003t0001 a0001c0008t0001 a0001c0046t0001 a0003c0014t0001	a0001c0003t0001g0133 a0001c0003t0001g0179 a0001c0008t0001g0069 others(3): Show a0001c0003t0001g0133 a0001c0003t0001g0179 a0001c0008t0001g0069 a0001c0008t0001g0090 a0001c0046t0001g0034 a0003c0014t0001g0013	6	294	0.0204	470	c.153 others(489): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(463): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03688.hp2 HG02040.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0225 a0001c0004t0001g0075 a0001c0001t0001g0225 a0001c0004t0001g0075	2	294	0.0068	470	c.153 others(489): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(463): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	294	0.0034	470	c.153 others(489): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857751	G G	GAGTGGTG others(463): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAG TGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTG GTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGCT GTCACGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCACGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0244 a0001c0022t0001g0244	1	294	0.0034	470	c.153 others(489): Show c.1530-3046_1530-3045insACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGTGACAGCAC TGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTG CACACCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACTGCA CACCCATCCCGAGACACCACTCACACCCGTCCCGTGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(463): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	296	0.0034	470	c.368 others(487): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTAT GTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LUZP2_chr11_24492053_25087638	24883330	A A	AATCTTCC others(463): Show AATCTTCCTTTTATCTTTGTTTCTCTCTCTCCCTTCTCATTCCCTCCCTC CCTCTCTTCCTCCCTTCCTCCCTTCTTCCCTTCCTTCCTTTCTTCCTTTC TTCCTTCCTCCCGTTGCACTAAAAAGCAATGAGTTACCTAGTCATGAGAA GACATGGATGGATTATAAATGCATATTACTAACTGAAAGAAGCCCATATG AAAGGGTACATGCTTATTATAATCTAACTGTACAACATTTTGAAAAAAGC GAAACTTACCGAAGGTTAAGAGGGAGGAAGGAATAGACATAGCAAGGAAT TTTATGTTAGTGAAACTACTCTGTATAATACTACAATGATGGATACATGT CATTATACATTAATCTAAACACACAGGATGTACAGAATGTAGAACACCAA GAGCATATCCTAATGTAAACTATGGTTTGGGGGTGATAACGACGTTTCAA TGTTGGTTTATTGATTGTAAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02129.hp1 HG02145.hp2 others(12): Show HG01975.hp1 HG02129.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03540.hp2 HG03579.hp1 NA19043.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0037 a0001c0003t0004 a0001c0003t0012 a0003c0004t0018	a0001c0001t0002g0025 a0001c0001t0002g0113 a0001c0001t0003g0081 others(12): Show a0001c0001t0002g0025 a0001c0001t0002g0113 a0001c0001t0003g0081 a0001c0001t0004g0062 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0013g0039 a0001c0001t0014g0002 a0001c0001t0014g0044 a0001c0001t0020g0097 a0001c0001t0037g0110 a0001c0003t0004g0050 a0001c0003t0004g0055 a0001c0003t0012g0111 a0003c0004t0018g0098	15	116	0.1293	470	c.397 others(489): Show c.397-22660_397-22659insTCTTCCTTTTATCTTTGTTTCTCTCT CTCCCTTCTCATTCCCTCCCTCCCTCTCTTCCTCCCTTCCTCCCTTCTTC CCTTCCTTCCTTTCTTCCTTTCTTCCTTCCTCCCGTTGCACTAAAAAGCA ATGAGTTACCTAGTCATGAGAAGACATGGATGGATTATAAATGCATATTA CTAACTGAAAGAAGCCCATATGAAAGGGTACATGCTTATTATAATCTAAC TGTACAACATTTTGAAAAAAGCGAAACTTACCGAAGGTTAAGAGGGAGGA AGGAATAGACATAGCAAGGAATTTTATGTTAGTGAAACTACTCTGTATAA TACTACAATGATGGATACATGTCATTATACATTAATCTAAACACACAGGA TGTACAGAATGTAGAACACCAAGAGCATATCCTAATGTAAACTATGGTTT GGGGGTGATAACGACGTTTCAATGTTGGTTTATTGATTGTAATA		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
MCM3AP_chr21_46230133_46290611	46289983	G G	GTGTGTGT others(463): Show GTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGT GTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCACGGTTGCAGTTTTGTGT GTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGT GTGTAAGGTTGTCATAGGCTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGT AAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGCGTGTAA GGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGG TTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTAAGGTTGTCA TAGCCTTTGTGCAAGGTTGCGGTTTTGTATGTGTGTAAGGTTGTCATAGC CTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGTGTAAGATTGTCATAGGCT TTGTGCAAGGTTGCAGTTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	360	0.0028	470	c.-46 others(481): Show c.-4698_-4697insTGAAACTGCAACCTTGCACAAAGCCTATGACAAT CTTACACACACACACAAAACTGCAACCTTGCACAAAGGCTATGACAACCT TACACACATACAAAACCGCAACCTTGCACAAAGGCTATGACAACCTTACA CACACGAAACTGCAACCTTGCACAAAGGCTATGACAACCTTACACACACA CACGAAACTGCAACCTTGCACAAAGGCTATGACAACCTTACACGCACACA CGAAACTGCAACCTTGCACAAAGGCTATGACAACCTTACACACACACAAA ACTGCAACCTTGCACAAAGCCTATGACAACCTTACACACACACACGAAAC TGCAACCTTGCACAAAGGCTATGACAACCTTACACACACACAAAACTGCA ACCGTGCACAAAGGCTATGACAACCTTACACACACACACGAAACTGCAAC CTTGCACAAAGGCTATGACAACCTTACACACACACA		MCM3AP	ENSG00000160294.11	transcript	ENST00000291688.6	protein_coding					4373		chr21	TogoVar
MCM3AP_chr21_46230133_46290611	46289983	G G	GTGTGTGT others(463): Show GTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGT GTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCACGGTTGCAGTTTTGTGT GTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGT GTGTAAGGTTGTCATAGGCTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGT AAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGCGTGTAA GGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGG TTGTCATAGGCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTAAGGTTGTCA TAGCCTTTGTGCAAGGTTGCGGTTTTGTATGTGTGTAAGGTTGTCATAGC CTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGTGTAAGATTGTCATAGGCT TTGTGCAAGGTTGCAGTTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(12): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0025	a0001c0001 a0001c0002 a0001c0004 others(26): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0017 a0001c0023 a0001c0032 a0001c0034 a0001c0036 a0001c0037 a0002c0003 a0002c0046 a0005c0008 a0006c0013 a0007c0015 a0008c0019 a0009c0018 a0011c0038 a0012c0033 a0013c0043 a0016c0022 a0018c0039 a0019c0044 a0020c0020 a0025c0035	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(26): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0012t0001 a0001c0017t0001 a0001c0023t0001 a0001c0032t0001 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001 a0002c0003t0001 a0002c0046t0001 a0005c0008t0001 a0006c0013t0001 a0007c0015t0001 a0008c0019t0001 a0009c0018t0001 a0011c0038t0001 a0012c0033t0001 a0013c0043t0001 a0016c0022t0001 a0018c0039t0001 a0019c0044t0001 a0020c0020t0001 a0025c0035t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(219): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0002t0001g0043 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0001g0143 a0001c0004t0001g0144 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0149 a0001c0004t0001g0150 a0001c0004t0001g0151 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0005t0002g0303 a0001c0005t0002g0325 a0001c0005t0002g0326 a0001c0006t0001g0122 a0001c0006t0001g0123 a0001c0006t0001g0124 a0001c0006t0001g0125 a0001c0006t0001g0126 a0001c0006t0001g0127 a0001c0006t0001g0128 a0001c0006t0001g0129 a0001c0006t0001g0130 a0001c0006t0001g0131 a0001c0006t0001g0132 a0001c0006t0001g0133 a0001c0007t0001g0011 a0001c0007t0001g0156 a0001c0007t0001g0157 a0001c0007t0001g0158 a0001c0007t0001g0159 a0001c0007t0001g0161 a0001c0007t0001g0162 a0001c0009t0001g0008 a0001c0009t0001g0073 a0001c0009t0001g0074 a0001c0012t0001g0228 a0001c0012t0001g0229 a0001c0012t0001g0230 a0001c0012t0001g0231 a0001c0017t0001g0061 a0001c0017t0001g0062 a0001c0023t0001g0041 a0001c0032t0001g0052 a0001c0034t0001g0075 a0001c0036t0001g0045 a0001c0037t0001g0030 a0002c0003t0001g0003 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0200 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0046t0001g0177 a0005c0008t0001g0029 a0005c0008t0001g0070 a0005c0008t0001g0071 a0006c0013t0001g0082 a0006c0013t0001g0090 a0006c0013t0001g0091 a0007c0015t0001g0170 a0007c0015t0001g0171 a0007c0015t0001g0172 a0008c0019t0001g0163 a0008c0019t0001g0164 a0009c0018t0001g0009 a0011c0038t0001g0048 a0012c0033t0001g0053 a0013c0043t0001g0186 a0016c0022t0001g0072 a0018c0039t0001g0160 a0019c0044t0001g0224 a0020c0020t0001g0022 a0025c0035t0001g0099	241	360	0.6694	470	c.-46 others(481): Show c.-4698_-4697insTGAAACTGCAACCTTGCACAAAGCCTATGACAAT CTTACACACACACACAAAACTGCAACCTTGCACAAAGGCTATGACAACCT TACACACATACAAAACCGCAACCTTGCACAAAGGCTATGACAACCTTACA CACACGAAACTGCAACCTTGCACAAAGCCTATGACAACCTTACACACACA CACGAAACTGCAACCTTGCACAAAGGCTATGACAACCTTACACGCACACA CGAAACTGCAACCTTGCACAAAGGCTATGACAACCTTACACACACACAAA ACTGCAACCTTGCACAAAGCCTATGACAACCTTACACACACACACGAAAC TGCAACCTTGCACAAAGGCTATGACAACCTTACACACACACAAAACTGCA ACCGTGCACAAAGGCTATGACAACCTTACACACACACACGAAACTGCAAC CTTGCACAAAGGCTATGACAACCTTACACACACACA		MCM3AP	ENSG00000160294.11	transcript	ENST00000291688.6	protein_coding					4373		chr21	TogoVar
MCM3AP_chr21_46230133_46290611	46289983	G G	GTGTGTGT others(463): Show GTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGT GTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCACGGTTGCAGTTTTGTGT GTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGT GTGTAAGGTTGTCATAGGCTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGT AAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGCGTGTAA GGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGG TTGTCATAGGCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTAAGGTTGTCA TAGCCTTTGTGCAAGGTTGCGGTTTTGTATGTGTGTAAGGTTGTCATAGC CTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGTGTAAGATTGTCATAGGCT TTGTGCAAGGTTGCAGTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0027 a0005c0008t0001g0027	1	360	0.0028	470	c.-46 others(481): Show c.-4698_-4697insGGAAACTGCAACCTTGCACAAAGCCTATGACAAT CTTACACACACACACAAAACTGCAACCTTGCACAAAGGCTATGACAACCT TACACACATACAAAACCGCAACCTTGCACAAAGGCTATGACAACCTTACA CACACGAAACTGCAACCTTGCACAAAGCCTATGACAACCTTACACACACA CACGAAACTGCAACCTTGCACAAAGGCTATGACAACCTTACACGCACACA CGAAACTGCAACCTTGCACAAAGGCTATGACAACCTTACACACACACAAA ACTGCAACCTTGCACAAAGCCTATGACAACCTTACACACACACACGAAAC TGCAACCTTGCACAAAGGCTATGACAACCTTACACACACACAAAACTGCA ACCGTGCACAAAGGCTATGACAACCTTACACACACACACGAAACTGCAAC CTTGCACAAAGGCTATGACAACCTTACACACACACA		MCM3AP	ENSG00000160294.11	transcript	ENST00000291688.6	protein_coding					4373		chr21	TogoVar
MPPED1_chr22_43407014_43512848	43432638	A A	AGGGAGGA others(463): Show AGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAA GGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAG AGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGAGAGAGA GAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02040.hp2 HG02083.hp2 others(1): Show HG00544.hp1 HG02040.hp2 HG02083.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0067 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0068	4	250	0.0160	470	c.225 others(487): Show c.225-2395_225-2394insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAA GGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGG AGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MVP_chr16_29815462_29853021	29843574	G G	GAGGAAGG others(463): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGA AGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGG AGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGA GGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAG GGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAG GGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGAAGGGAGGGAGG GAGGGAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 homoSapiens_chm13v2.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	230	0.0087	470	c.163 others(487): Show c.1635-916_1635-915insAAGGGAGGAAGGGAGGAAGGGAGGGAGG GAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGG AGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGA GTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGG AAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGA AGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAA GGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGA GGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGG		MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(463): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTA GTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGAC CATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGT GGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGA TGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0181 a0001c0001t0070g0181	1	384	0.0026	470	c.160 others(487): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCAC CACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGTCACCA CCATCATTACCACTACCACCACGACTACCACCACCACCACCACTACCACC ACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCAC TACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCA CCACCACCACCATCACCACCATCACCACCATCACCACCACCA		MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12						chr6	TogoVar

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