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
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(619): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTT CCCTTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCC CTTTCCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	100	0.0100	626	c.-10 others(643): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTCCCCCTTCCCCCTTC CCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(620): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGA GGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGG ATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAG GAAAGGAGGGATGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGG AGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGG GATGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAA GGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01358.hp2 HG00140.hp1 HG00642.hp1 HG01358.hp2	a0003 a0006 a0003 a0006	a0003c0006 a0003c0041 a0006c0016 a0003c0006 a0003c0041 a0006c0016	a0003c0006t0045 a0003c0041t0001 a0006c0016t0002 a0003c0006t0045 a0003c0041t0001 a0006c0016t0002	a0003c0006t0045g0115 a0003c0041t0001g0102 a0006c0016t0002g0082 a0003c0006t0045g0115 a0003c0041t0001g0102 a0006c0016t0002g0082	3	27	0.1111	627	c.259 others(648): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCTCCTTTCCTTCCCT CCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCATCCCTCC TTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCATC CCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCC TCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCC TTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCAT CCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC ATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCT CCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(620): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	76	0.0132	627	c.955 others(644): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(620): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATG GTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGG TGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTGGTGATGGTG ATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	86	0.0116	627	c.21 others(642): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCACCATCACCACCATCACCACCATCATCACCACCACCACCACC ATCACCACCATCATCACCATCACCACCACCACCACCACCACCATCACCAT CACCACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCA TCACCACCATCATCACCATCACCACCACCATCACCACCATCATCACTATC ACCACCATCACCACCATCATCACCACCACCACCACCACCATCACCACCAC CATCACCACCATCACCATCACCACCATCATCACCACCACCGTCACCCCCA TCATTACCATCACCACCACCACCACCACCACCATGACCACCACCACCACC ACTCTCACCATCATCATCACTGTCACCACCACCACCACCACCACCACCAT CACTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTACCACCC CCACCACCACTCTCACCACCATCACCATCACCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C2CD4C_chr19_400445_414147	404412	T T	TGGGGGGG others(620): Show TGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCT GTCCTGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGA GGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTG CCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTCTGAGG GGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGACGGGGCCCTGT CCTGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGG GGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTGCC CCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGG GGGGACGGGGCCCTGTCCCGAGGGGTCTGAGGGGGGGACGGGTCCTGCCC CGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGG GGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGGACGGGGTCCTGCC CTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGGGGGG GGACGGGGTCCTGTCCCGAGGGGTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0094 a0001c0001t0115g0094	1	244	0.0041	627	c.26 others(638): Show c.2683_*2684insCCACACCCCTCGGGACAGGACCCCGTCCCCCCCC CACACCCCTCGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGGCAGG ACCCCGTCCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCT CACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAG GACCCGTCCCCCCCTCAGACCCCTCGGGACAGGGCCCCGTCCCCCCCCTC ACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGG ACCCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTCAG ACCCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGACAGGG CCCCGTCCCCCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCAG ACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGAC CCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTCAGAC CCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGACAGGGCC CCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1032		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185709	T T	TGCATAGG others(620): Show TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0013 a0013	a0013c0134 a0013c0134	a0013c0134t0003 a0013c0134t0003	a0013c0134t0003g0314 a0013c0134t0003g0314	1	326	0.0031	627	c.300 others(644): Show c.300-9261_300-9260insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGGCCG GGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGG CCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATA GGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATG CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGC ATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(620): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATATAATTATATATATTTATAT ATATATAATTATATATATATATAAAATTATATATATAATTATATATATTA TATATAATTATATATATAATTTTATATATATAATTATATATATTTATATA TATATATATAATTATATATATATATAAAATTATATATATAATTATATATA TATTATATATAATTATATATATATATTATATATAATTTTATATATATAAT TATATATATAATTTTATATATATAATTTTATATATATAATTTTATATATA TAATTTTATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTTTATATATATATAATTATATATATAATTTTATATA TATATAATTATATATATAATTATATATATAATTTTATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATAAT TATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0189 a0001c0001t0007g0189	1	94	0.0106	627	c.907 others(642): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATATAAAATTATATATATAATTATAT ATATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(620): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTATATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATAATTATATATATTATATAATT ATATATATAATTTTATATATATATAATTATATATACAATTTTATAATATA TATAATTATATATACAATTATATATATATATAATTATATATATATAATTG TATATATAATTTTATATATATAATTATATATAATTTTATATATATATAAT TATATATATAATTATATATATATAATTATATATATTTATATATATATATA ATTATATATATAATTTTATATATATAATTTTATATAATTTTATATATAAT TATATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0255 a0003c0003t0001g0255	1	249	0.0040	627	c.907 others(642): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATATAAAA TTATATATATAATTATATATATATAAAATTATATATATAATTATATATAT AAAATTATATATATAATTATATATATATATAATTATATATATAATTATAT ATATATAATTATATATATATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(620): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATAATTATATATATTATATAATT ATATATATAATTTTATATATATATAATTATATATACAATTTTATAATATA TATAATTATATATACAATTATATATATATATAATTATATATATATAATTG TATATATAATTTTATATATATAATTATATATAATTTTATATATATATAAT TATATATATAATTATATATATATAATTATATATATTTATATATATATATA ATTATATATATAATTTTATATATATAATTTTATATAATTTTATATATAAT TATATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp1 HG02602.hp1 others(10): Show HG00438.hp1 HG02080.hp1 HG02602.hp1 HG02683.hp1 HG03017.hp2 NA18959.hp1 NA18962.hp2 NA18968.hp2 NA18980.hp2 NA18982.hp1 NA18992.hp2 NA19009.hp1 NA19060.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0010 a0004c0025 a0003c0003 a0004c0010 a0004c0025	a0003c0003t0001 a0004c0010t0001 a0004c0025t0001 a0003c0003t0001 a0004c0010t0001 a0004c0025t0001	a0003c0003t0001g0075 a0003c0003t0001g0140 a0003c0003t0001g0159 others(10): Show a0003c0003t0001g0075 a0003c0003t0001g0140 a0003c0003t0001g0159 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0202 a0003c0003t0001g0248 a0004c0010t0001g0251 a0004c0010t0001g0294 a0004c0025t0001g0246	13	261	0.0498	627	c.907 others(642): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATATAAAA TTATATATATAATTATATATATATAAAATTATATATATAATTATATATAT AAAATTATATATATAATTATATATATATAAAATTATATATATAATTATAT ATATATAATTATATATATATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181959	A A	ACACATAC others(620): Show ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACTCACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACACACTCACATACAG ACACAACCACACCACACACACACACACATACAGACACAACCACACCACAC ACACACATACACACTCACATACAGACACAACCACACCACACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACATACAGACACA ACCACACCACACACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACTCACATACAGACACAACCACACCACACTC ACACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC TCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	453	0.0022	627	c.193 others(644): Show c.1938+643_1938+644insTACACACTCACATACAGACACAACCACA CCACACTCACACACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACTCACATACAGACACAACCACACCACACACACACACACATACAG ACACAACCACACCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACTCACATACAGACACAACCACACCACACACAC ACACACATACAGACACAACCACACCACACACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC16_chr13_114229897_114277723	114231068	C C	CTGCTGCT others(620): Show CTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGA GTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGC GGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGG ATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGG TGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGG TGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTG GGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCT GGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCAT TGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAG TGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCG GGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGA TCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGT GGTTGGATCGTGGGGGTGGAGTGCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	358	0.0028	627	c.-40 others(638): Show c.-4017_-4016insTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGC TGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCA TTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGA GTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG GGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGG ATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGG TGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGG TGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTG GGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCAT	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3828		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231256	G G	GCTGGTGG others(620): Show GCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGG CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTG CCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGG TGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGG GAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGG CTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGC GGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTACCCATTGC TGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGC CCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGT GGAGTGCCCATTGCTGCTGGAGGTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	377	0.0027	627	c.-38 others(638): Show c.-3829_-3828insCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGT GCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGG GTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGAT CGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTG GTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTG GGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGG GCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGG CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGG TGGAGTACCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGA	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3640		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231420	C C	CGGTGGGG others(620): Show CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTG CCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGG TGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCAGTGGGGCTGGTGG GAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGG CTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGC GGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGC TGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGC CCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGT GGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCG TGGGGGTGGAGTGCCCATTGCTGCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	146	0.0068	627	c.-36 others(638): Show c.-3665_-3664insGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGG GTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGAT CGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTG GTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTG GGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGG GCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGG CAGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGG TGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGG GAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGA	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3476		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231509	C C	CGGGTGGA others(620): Show CGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGTGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGC TGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCA TTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGA GTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG GGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGG ATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGG TGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGG TGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTG GGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0174 a0001c0009t0001g0174	1	147	0.0068	627	c.-35 others(638): Show c.-3576_-3575insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGTGGGTGGAGTGCCCATTGCTGCTGGAGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGG AGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG CGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGC TGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCA TTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3387		chr13	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(620): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	12	0.0833	627	c.-45 others(648): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTC CCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCCGAGG others(620): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0002 a0019c0027t0002	a0019c0027t0002g0026 a0019c0027t0002g0026	1	171	0.0058	627	c.212 others(644): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(620): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	68	0.0147	627	c.-42 others(638): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL21A1_chr6_56051590_56252580	56098010	T T	TATAAATA others(620): Show TATAAATATATATAAATATATAAATATATATAAATATAAATATATATAAA TATATAAATATATAAATATATATAAATATATAAATATATATAAATATATA TAAATATAAAAATATATATAAATATATAAATATATATAAATATATATGTA AATATATAAATATATATAAATATATATGTAAATATATAAATATATATAAA TAAATATATATAAATATATATAAATATAAATATATATATAAATATGTAAT TCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATAAATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATATATAACTATATAAAT AAATATATATAAATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	250	0.0040	627	c.181 others(646): Show c.1812+3461_1812+3462insTTATATATTTATATATTTATATATAT TTATTTATATAGTTATATATTTATATATATTTATATATATATATTTATAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATTTACATATATTTATATATTTATATATATTTATATTTTTTATATATTTA TATATATTTTTATATATATTTATATATTTATAAATATATATATATTTATA TATTTATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATTTATAAATATATATATATTTATATATATATAAATATATATATATT TATATATTTATAAATATATTTATATTTATATATATTTACATATATATTTA GAATTACATATTTATATATATATTTATATTTATATATATTTATATATATT TATTTATATATATTTATATATTTACATATATATTTATATATATTTATATA TTTACATATATATTTATATATATTTATATATTTATATATATTTTTATATT TATATATATTTATATATATTTATATATTTATATATATTTATATATTTATA TATTTATATATATTTATATTTATATATATTTATATATTTATATATATTTA T	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CSF2RA_chrX_1263814_1314935	1297579	G G	GTCCCCTA others(620): Show GTCCCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACGAC CCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGT CCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGTGGAACC CTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGG CAGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACTCATGA CCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTA CCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAG TCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACC CCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACCCATGACCCCTGGTGGAACCCTACAGTC CCCTACTCACAACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCC TACAGTCCCCTACTCACAACCCCTACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp1 HG00140.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0149 a0001c0001t0003g0134 a0001c0001t0003g0149	2	24	0.0833	627	c.810 others(644): Show c.810+2125_810+2126insCCCTACTCATGACCCCTGGAGTAACCCT ACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCG GAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACC CCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACC CATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACTC TCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCC TACAGTCCCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCA CGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCC CTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTA CAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGGAGT AACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCC CTGGTGGAACCCTACAGTCCCCTACTCACAACCCCTACACTCTCCTACCC ATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACAACCCCTACACTC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(620): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGGGCCCAGCCAGGGCCCAGC CAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACC CAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0115 a0001c0005t0005g0115	1	125	0.0080	627	c.236 others(646): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAG CGAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAG A	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DOCK8_chr9_209865_470255	400013	T T	TCACCACC others(620): Show TCACCACCTCCTTCACCATCACCAGCACCTCCACCATCACCATCACCACC TCCACCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCAC CACCAGCATCTTCACCATCACCACCACCACCACCACCGCCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCAT CACCACCTCCTCCATCACCACCACCATCTTCACCATCACCACCACCTCCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC TCCACCACCACCATCACCACCTCCTTCACCATCACCACCACCACCACCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCACCACCGCCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTT CTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCACCA CCACCTCCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0056 a0056	a0056c0130 a0056c0130	a0056c0130t0001 a0056c0130t0001	a0056c0130t0001g0169 a0056c0130t0001g0169	1	187	0.0053	627	c.323 others(644): Show c.3234+761_3234+762insTCCTTCACCATCACCAGCACCTCCACCA TCACCATCACCACCTCCACCACCATCACCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCACCACCAC CGCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCAT CACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCTCCACCACCACCATCACCACCTCCTTCACCATCACC ACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCAC CACCACCGCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCC ACCACCACCACCTTCTCCACCATCACCACCTCCTCCATCACCACCACCAT CTTCACCATCACCACCACCTCCACCACCACCACCACCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619312	C C	CGCTCCCC others(620): Show CGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCC CTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTC CCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCC ATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	169	0.0059	627	c.-10 others(646): Show c.-107+5613_-107+5614insATGCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCC TCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCC CTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC TCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTC C	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FAM153A_chr5_177718364_177787899	177782643	T T	TATCCAAC others(620): Show TATCCAACCCCCAATCCGCGATCCAACCTCCAATCCGCGATCCAAACCCC AATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGATCC AACTCCCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCC ATGATCCAACTCAACATCCGCTATCCAACCCCCAATCCGCGATCCAAACC CCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGAT CCAAACCCCAATCCGCGATCCAAACCCCAATCCGCGATCCAACCCCCAAT CCGCGATCCAACCCCCAATCCGCGATCCAACTCCCAATCCGCGATCCAAC CCCCAATCCGCGATCCAACCCCCAATCCGTGATCCAACTCAACATCCGCG ATCCAACCCCCAATCCGCGATCCAAACCCCAATCCGCGATCCAACCCCCA ATCCGTGATCCAAATCCCAATCCGTGATCCAACCCCCAATCCGTGATCCA AACCCCAATCCGTGATCCAAACCCCAATCCGCGATCCAACCCCCAATCCG TGATCCAACTCAAAATCCCCGATCCAAATCCCAATCCGTGATCCAACCCC CAATCCGCGATCCAACCCCCAATCCGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0035 a0003c0005t0001g0035	1	28	0.0357	627	c.-33 others(643): Show c.-338+99_-338+100insCACGGATTGGGGGTTGGATCGCGGATTGG GGGTTGGATCACGGATTGGGATTTGGATCGGGGATTTTGAGTTGGATCAC GGATTGGGGGTTGGATCGCGGATTGGGGTTTGGATCACGGATTGGGGTTT GGATCACGGATTGGGGGTTGGATCACGGATTGGGATTTGGATCACGGATT GGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGGTTGGATC GCGGATGTTGAGTTGGATCACGGATTGGGGGTTGGATCGCGGATTGGGGG TTGGATCGCGGATTGGGAGTTGGATCGCGGATTGGGGGTTGGATCGCGGA TTGGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGTTTGGA TCGCGGATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTGGG GTTTGGATCGCGGATTGGGGGTTGGATAGCGGATGTTGAGTTGGATCATG GATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTGGGAGTTG GATCGCGGATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTG GGGTTTGGATCGCGGATTGGAGGTTGGATCGCGGATTGGGGGTTGGAT	FAM153A	ENSG00000170074.21	transcript	ENST00000697116.2	protein_coding	1/22			chr5	TogoVar
FAM153A_chr5_177718364_177787899	177782643	T T	TATCCAAC others(620): Show TATCCAACCCCCAATCCGCGATCCAACCTCCAATCCGCGATCCAAACCCC AATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGATCC AACTCCCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCC GTGATCCAACTCAACATCCGCTATCCAACCCCCAATCCGCGATCCAAACC CCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGAT CCAAACCCCAATCCGCGATCCAAACCCCAATCCGCGATCCAACCCCCAAT CCGCGATCCAACCCCCAATCCGCGATCCAACTCCCAATCCGCGATCCAAC CCCCAATCCGCGATCCAACCCCCAATCCGTGATCCAACTCAACATCCGCG ATCCAACCCCCAATCCGCGATCCAAACCCCAATCCGCGATCCAACCCCCA ATCCGTGATCCAAATCCCAATCCGTGATCCAACCCCCAATCCGTGATCCA AACCCCAATCCGTGATCCAAACCCCAATCCGCGATCCAACCCCCAATCCG TGATCCAACTCAAAATCCCCGATCCAAATCCCAATCCGTGATCCAACCCC CAATCCGCGATCCAACCCCCAATCCGTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02258.hp2 HG03130.hp1 others(2): Show HG01952.hp2 HG02258.hp2 HG03130.hp1 HG03453.hp2 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0004c0006t0001g0032	5	32	0.1563	627	c.-33 others(643): Show c.-338+99_-338+100insCACGGATTGGGGGTTGGATCGCGGATTGG GGGTTGGATCACGGATTGGGATTTGGATCGGGGATTTTGAGTTGGATCAC GGATTGGGGGTTGGATCGCGGATTGGGGTTTGGATCACGGATTGGGGTTT GGATCACGGATTGGGGGTTGGATCACGGATTGGGATTTGGATCACGGATT GGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGGTTGGATC GCGGATGTTGAGTTGGATCACGGATTGGGGGTTGGATCGCGGATTGGGGG TTGGATCGCGGATTGGGAGTTGGATCGCGGATTGGGGGTTGGATCGCGGA TTGGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGTTTGGA TCGCGGATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTGGG GTTTGGATCGCGGATTGGGGGTTGGATAGCGGATGTTGAGTTGGATCACG GATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTGGGAGTTG GATCGCGGATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTG GGGTTTGGATCGCGGATTGGAGGTTGGATCGCGGATTGGGGGTTGGAT	FAM153A	ENSG00000170074.21	transcript	ENST00000697116.2	protein_coding	1/22			chr5	TogoVar
FBN2_chr5_128252909_128543245	128539822	T T	TCATATAT others(620): Show TCATATATCATATATATGATATATATGATAGATCATATATTATATCATAT ATATCATATATATGAGATCATATATGATCTATCATATATATCATATCATA TATATCATATCATTATCATATATCACATATATCATATATCACATATATCA CATATATCATATATCACATATATCACATATATCATATATCACATATATCA CATATATCATATATATCATATATCACATATATCATATATATCATATATTA TATATATCATATATCATATATATCATATATATCATATATATCATATATAT CATATATATCATATATATCATATATATCATATATCATATATATCATATAT ATCATATATCATATATATCATATATATCATATATCATATATATCATATAT ATCATATATCATATATATCATATATATCATATATATTATATATTATATAT CATATATATCATATATATTATATATTATATATCATATATATCATATATAT TATATATCATATATCATATATATCATATATATTATATATCATATATCATA TATATCATATATATTATATATCATATATCATATATCATATATATCATATA TATCATATATCATATATCATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0043 a0002c0006t0004g0043	1	229	0.0044	627	c.-22 others(638): Show c.-2220_-2219insTGATATATATGATATATGATATATGATATATATG ATATATATGATATATGATATATGATATATAATATATATGATATATATGAT ATATGATATATAATATATATGATATATATGATATATGATATATAATATAT ATGATATATATGATATATAATATATAATATATATGATATATATGATATAT AATATATAATATATATGATATATATGATATATATGATATATGATATATAT GATATATATGATATATGATATATATGATATATATGATATATGATATATAT GATATATATGATATATGATATATATGATATATATGATATATATGATATAT ATGATATATATGATATATATGATATATATGATATATGATATATATAATAT ATGATATATATGATATATGTGATATATGATATATATGATATATGTGATAT ATGTGATATATGATATATGTGATATATGTGATATATGATATATGTGATAT ATGTGATATATGATATATGTGATATATGATAATGATATGATATATATGAT ATGATATATATGATAGATCATATATGATCTCATATATATGATATATATGA TATAATATATGATCTATCATATATATCATATATATGATATATG	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1578		chr5	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(620): Show GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATTTACATACATATAAATATATATTTACATACATATAAATATA TACATTTATATACATATAAATATATACATATATACATATAAATATATATT TATATACATATAAATATATATATTTATATATATTTATATATATATAAATA TATATATATTTGTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATATATATACATATAAATATATATTTATATACA TATAAATATATAATTATATACATATAAATATATAATTATATACATATAAA TATATATAATTATATACATATAAATATATATTTATATACATATAAATTTA TATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	28	0.0357	627	c.49 others(638): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAATATACATACATATATATTTATATGTATATAC ATATATATTTATATGTATATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71435727	C C	CGGAGGGA others(620): Show CGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGAAAAAAGGAGGGAGGG AGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGG ACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAG GGAAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAGGGAGGAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0087 a0001c0001t0052g0087	1	93	0.0108	627	c.-16 others(648): Show c.-168+57698_-168+57699insTTTTTTCCTCCCTCCCTCCCTCCG TCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTC CCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCG TCCCTTCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTTC TTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGT CCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCC TCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GABRG3_chr15_26966181_27546984	27385226	C C	CTCCTTTG others(620): Show CTCCTTTGTAGAGCTATCACAGGGTTCTCACACTCGGGTCATTATTCAGT ACTAATCACCCCAGGGAAACTGGGGACAACCCTGTCCCAGAGCCCAGTGA AATTATTAAAACTGGGAATTATAAACTGTTTATTCTTCTTTGCCTGTTCT TTCCCATGGAAACCACAGTAAAGGGCCTTACCCACATTTTCCTCCTTTCC TCTGACCGCCCAGTGTCATGGTGTGCCCTATTCTCTTAAAAACCATGAGT AGCAGTCTTTTCAGTGACAATCACATCTTGATTTATTGGTCTCGTCATAC CTGAATAATAGTAAAACTTGCATTTTTAAACACTTTTGTTTTAGAGACAG TGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTTTGATCTTGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTGCAGGTATGCACCACCATGCCTGACTAGTTTTTGCA TTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACT CCTGGCCTCAGGTGATCCACCGGCCTCAGCCTCCCAGAGTGCTGGGATTA CAGGCATGAGCCACTGTGACCGGCCACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG01884.hp2 others(12): Show HG00738.hp1 HG01496.hp2 HG01884.hp2 HG02145.hp1 HG02258.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0001c0018	a0001c0001t0001 a0001c0001t0021 a0001c0001t0034 others(11): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0034 a0001c0002t0001 a0001c0002t0006 a0001c0002t0016 a0001c0002t0027 a0001c0003t0019 a0001c0004t0011 a0001c0005t0002 a0001c0006t0003 a0001c0007t0036 a0001c0013t0023 a0001c0018t0004	a0001c0001t0001g0044 a0001c0001t0021g0072 a0001c0001t0034g0088 others(12): Show a0001c0001t0001g0044 a0001c0001t0021g0072 a0001c0001t0034g0088 a0001c0002t0001g0041 a0001c0002t0006g0052 a0001c0002t0016g0012 a0001c0002t0027g0080 a0001c0003t0019g0064 a0001c0004t0011g0078 a0001c0005t0002g0055 a0001c0006t0003g0020 a0001c0006t0003g0069 a0001c0007t0036g0016 a0001c0013t0023g0006 a0001c0018t0004g0053	15	52	0.2885	627	c.574 others(646): Show c.574+56339_574+56340insCCTTTGTAGAGCTATCACAGGGTTCT CACACTCGGGTCATTATTCAGTACTAATCACCCCAGGGAAACTGGGGACA ACCCTGTCCCAGAGCCCAGTGAAATTATTAAAACTGGGAATTATAAACTG TTTATTCTTCTTTGCCTGTTCTTTCCCATGGAAACCACAGTAAAGGGCCT TACCCACATTTTCCTCCTTTCCTCTGACCGCCCAGTGTCATGGTGTGCCC TATTCTCTTAAAAACCATGAGTAGCAGTCTTTTCAGTGACAATCACATCT TGATTTATTGGTCTCGTCATACCTGAATAATAGTAAAACTTGCATTTTTA AACACTTTTGTTTTAGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGT ACAGTGGTTTGATCTTGGCTCACTGCAACCTCCACCCCCTGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGTATGCACCA CCATGCCTGACTAGTTTTTGCATTTTTAGTAGAGATGGAGTTTTGCTATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCGGCCTCA GCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGACCGGCCACA T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27385226	C C	CTCCTTTG others(620): Show CTCCTTTGTAGAGCTATCACAGGGTTCTCACACTCGGGTCATTATTCAGT ACTAATCACCCCAGGGAAACTGGGGACAACCCTGTCCCAGAGCCCAGTGA AATTATTATAACTGGGAATTATAAACTGTTTATTCTTCTTTGCCTGTTCT TTCCCATGGAAACCACAGTAAAGGGCCTTACCCACATTTTCCTCCTTTCC TCTGACCGCCCAGTGTCATGGTGTGCCCTATTCTCTTAAAAACCATGAGT AGCAGTCTTTTCAGTGACAATCACATCTTGATTTATTGGTCTCGTCATAC CTGAATAATAGTAAAACTTGCATTTTTAAACACTTTTGTTTTAGAGACAG TGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTTTGATCTTGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTGCAGGTATGCACCACCATGCCTGACTAGTTTTTGCA TTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACT CCTGGCCTCAGGTGATCCACCGGCCTCAGCCTCCCAGAGTGCTGGGATTA CAGGCATGAGCCACTGTGACCGGCCACA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03834.hp1 HG04115.hp2 HG03704.hp1 HG03834.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0015g0013 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0015g0013	3	40	0.0750	627	c.574 others(646): Show c.574+56339_574+56340insCCTTTGTAGAGCTATCACAGGGTTCT CACACTCGGGTCATTATTCAGTACTAATCACCCCAGGGAAACTGGGGACA ACCCTGTCCCAGAGCCCAGTGAAATTATTATAACTGGGAATTATAAACTG TTTATTCTTCTTTGCCTGTTCTTTCCCATGGAAACCACAGTAAAGGGCCT TACCCACATTTTCCTCCTTTCCTCTGACCGCCCAGTGTCATGGTGTGCCC TATTCTCTTAAAAACCATGAGTAGCAGTCTTTTCAGTGACAATCACATCT TGATTTATTGGTCTCGTCATACCTGAATAATAGTAAAACTTGCATTTTTA AACACTTTTGTTTTAGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGT ACAGTGGTTTGATCTTGGCTCACTGCAACCTCCACCCCCTGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGTATGCACCA CCATGCCTGACTAGTTTTTGCATTTTTAGTAGAGATGGAGTTTTGCTATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCGGCCTCA GCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGACCGGCCACA T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27385226	C C	CTCGTTTG others(620): Show CTCGTTTGTAGAGCTATCACAGGGTTCTCACACTCGGGTCATTATTCAGT ACTAATCACCCCAGGGAAACTGGGGACAACCCTGTCCCAGAGCCCAGTGA AATTATTAAAACTGGGAATTATAAACTGTTTATTCTTCTTTGCCTGTTCT TTCCCATGGAAACCACAGTAAAGGGCCTTACCCACATTTTCCTCCTTTCC TCTGACCGCCCAGTGTCATGGTGTGCCCTATTCTCTTAAAAACCATGAGT AGCAGTCTTTTCAGTGACAATCACATCTTGATTTATTGGTCTCGTCATAC CTGAATAACAGTAAAACTTGCATTTTTAAACACTTTTGTTTTAGAGACAG TGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTTTGATCTTGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTGCAGGTATGCACCACCATGCCTGACTAGTTTTTGCA TTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACT CCTGGCCTCAGGTGATCCACCGGCCTCAGCCTCCCAGAGTGCTGGGATTA CAGGCATGAGCCACTGTGACCGGCCACA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	38	0.0263	627	c.574 others(646): Show c.574+56339_574+56340insCGTTTGTAGAGCTATCACAGGGTTCT CACACTCGGGTCATTATTCAGTACTAATCACCCCAGGGAAACTGGGGACA ACCCTGTCCCAGAGCCCAGTGAAATTATTAAAACTGGGAATTATAAACTG TTTATTCTTCTTTGCCTGTTCTTTCCCATGGAAACCACAGTAAAGGGCCT TACCCACATTTTCCTCCTTTCCTCTGACCGCCCAGTGTCATGGTGTGCCC TATTCTCTTAAAAACCATGAGTAGCAGTCTTTTCAGTGACAATCACATCT TGATTTATTGGTCTCGTCATACCTGAATAACAGTAAAACTTGCATTTTTA AACACTTTTGTTTTAGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGT ACAGTGGTTTGATCTTGGCTCACTGCAACCTCCACCCCCTGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGTATGCACCA CCATGCCTGACTAGTTTTTGCATTTTTAGTAGAGATGGAGTTTTGCTATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCGGCCTCA GCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGACCGGCCACA T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27385226	C C	CTCGTTTG others(620): Show CTCGTTTGTAGAGCTATCACAGGGTTCTCACACTCGGGTCATTATTCAGT ACTAATCACCCCAGGGAAACTGGGGACAACCCTGTCCCAGAGCCCAGTGA AATTATTAAAACTGGGAATTATAAACTGTTTATTCTTCTTTGCCTGTTCT TTCCCATGGAAACCACAGTAAAGGGCCTTACCCACATTTTCCTCCTTTCC TCTGACCGCCCAGTGTCATGGTGTGCCCTATTCTCTTAAAAACCATGAGT AGCAGTCTTTTCAGTGACAATCACATCTTGATTTATTGGTCTCGTCATAC CTGAATAATAGTAAAACTTGCATTTTTAAACACTTTTGTTTTAGAGACAG TGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTTTGATCTTGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTGCAGGTATGCACCACCATGCCTGACTAGTTTTTGCA TTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACT CCTGGCCTCAGGTGATCCACCGGCCTCAGCCTCCCAGAGTGCTGGGATTA CAGGCATGAGCCACTGTGACCGGCCACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00738.hp2 others(31): Show HG00323.hp1 HG00408.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02809.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0002t0001 a0001c0002t0006 a0001c0002t0026 a0001c0002t0029 a0001c0003t0006 a0001c0003t0012 a0001c0003t0022 a0001c0003t0032 a0001c0003t0037 a0001c0006t0003 a0001c0007t0001 a0001c0009t0002 a0001c0009t0010 a0001c0011t0018 a0001c0017t0001	a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0073 others(31): Show a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0004g0007 a0001c0001t0007g0014 a0001c0001t0025g0092 a0001c0001t0028g0054 a0001c0001t0031g0028 a0001c0002t0001g0009 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0006g0062 a0001c0002t0026g0070 a0001c0002t0029g0032 a0001c0003t0006g0034 a0001c0003t0012g0023 a0001c0003t0022g0058 a0001c0003t0032g0040 a0001c0003t0037g0018 a0001c0006t0003g0008 a0001c0007t0001g0048 a0001c0009t0002g0089 a0001c0009t0010g0051 a0001c0011t0018g0004 a0001c0017t0001g0039	34	71	0.4789	627	c.574 others(646): Show c.574+56339_574+56340insCGTTTGTAGAGCTATCACAGGGTTCT CACACTCGGGTCATTATTCAGTACTAATCACCCCAGGGAAACTGGGGACA ACCCTGTCCCAGAGCCCAGTGAAATTATTAAAACTGGGAATTATAAACTG TTTATTCTTCTTTGCCTGTTCTTTCCCATGGAAACCACAGTAAAGGGCCT TACCCACATTTTCCTCCTTTCCTCTGACCGCCCAGTGTCATGGTGTGCCC TATTCTCTTAAAAACCATGAGTAGCAGTCTTTTCAGTGACAATCACATCT TGATTTATTGGTCTCGTCATACCTGAATAATAGTAAAACTTGCATTTTTA AACACTTTTGTTTTAGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGT ACAGTGGTTTGATCTTGGCTCACTGCAACCTCCACCCCCTGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGTATGCACCA CCATGCCTGACTAGTTTTTGCATTTTTAGTAGAGATGGAGTTTTGCTATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCGGCCTCA GCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGACCGGCCACA T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27385226	C C	CTCGTTTG others(620): Show CTCGTTTGTAGAGCTATCACAGGGTTCTCACACTCGGGTCATTATTCAGT ACTAATCACCCCAGGGAAACTGGGGACAACCCTGTCCCAGAGCCCAGTGA AATTATTAAAACTGGGAATTATAAACTGTTTATTCTTCTTTGCCTGTTCT TTCCCATGGAAACCACAGTAAAGGGCCTTACCCACATTTTCCTCCTTTCC TCTGACCGCCCAGTGTCATGGTGTGCCCTATTCTCTTAAAAACCATGAGT AGCAGTCTTTTCAGTGACAATCACATCTTGATTTATTGGTCTCGTCATAC CTGAATAATAGTAAAACTTGCATTTTTAAACACTTTTGTTTTAGAGACAG TGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTTTGATCTTGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTGCAGGTATGCACCACCATGCCTGACTAGTTTTTGCA TTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACT CCTGGCCTCAGGTGATCCACCGGCCTCAGCCTCCCAGAGTGCTGGGATTA CAGGCATGAGCCACTGTGACCGGCCACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0005 a0001c0003t0001 a0001c0005t0005	a0001c0003t0001g0066 a0001c0005t0005g0037 a0001c0003t0001g0066 a0001c0005t0005g0037	2	39	0.0513	627	c.574 others(646): Show c.574+56339_574+56340insCGTTTGTAGAGCTATCACAGGGTTCT CACACTCGGGTCATTATTCAGTACTAATCACCCCAGGGAAACTGGGGACA ACCCTGTCCCAGAGCCCAGTGAAATTATTAAAACTGGGAATTATAAACTG TTTATTCTTCTTTGCCTGTTCTTTCCCATGGAAACCACAGTAAAGGGCCT TACCCACATTTTCCTCCTTTCCTCTGACCGCCCAGTGTCATGGTGTGCCC TATTCTCTTAAAAACCATGAGTAGCAGTCTTTTCAGTGACAATCACATCT TGATTTATTGGTCTCGTCATACCTGAATAATAGTAAAACTTGCATTTTTA AACACTTTTGTTTTAGAGACAGTGTCTCGCTCTGTTGCCCAGGCTGGAGT ACAGTGGTTTGATCTTGGCTCACTGCAACCTCCACCCCCTGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGTATGCACCA CCATGCCTGACTAGTTTTTGCATTTTTAGTAGAGATGGAGTTTTGCTATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCGGCCTCA GCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGACCGGCCACA T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT9_chr12_132191372_132334589	132242114	C C	CCCATTCC others(620): Show CCCATTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACACCCT TCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCA GGGCCGTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCC ATCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGGCCGTCCC TATACCCATTACAAACACAACACACACCCTTCCAGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGGCCGTCCCTATCCCCATT ACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCGATTTACAC ACACCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACC ACACCCCCTTCCCGGGGCCCTCCCTATACCTATTGCACACACAACACACA CTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCC AGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCTGGG CCGTCCCTATACCCATTACACACACAACACACACCCTTCCAGGGGCCCTC CCTATACCCATTACACACACGCCACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02027.hp1 others(5): Show HG00408.hp1 HG00408.hp2 HG02027.hp1 HG02683.hp1 HG02698.hp1 NA18964.hp2 NA18999.hp2 NA19002.hp2	a0001 a0005 a0001 a0005	a0001c0011 a0001c0013 a0001c0020 others(2): Show a0001c0011 a0001c0013 a0001c0020 a0001c0039 a0005c0033	a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 others(2): Show a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0001c0039t0006 a0005c0033t0001	a0001c0011t0001g0058 a0001c0011t0001g0065 a0001c0011t0001g0116 others(5): Show a0001c0011t0001g0058 a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0011t0001g0130 a0001c0013t0004g0095 a0001c0020t0001g0115 a0001c0039t0006g0001 a0005c0033t0001g0114	8	115	0.0696	627	c.107 others(646): Show c.1077+5795_1077+5796insTGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAC GGCCCAGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGTGTGTGTTGTGTGTGCAATAGGTATAGGGAGGGCCCCGGGAAGGGGGT GTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGT GTGTGTAAATCGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGT GTAATGGGGATAGGGACGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAAT GGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGTTGTGTTTGTAATGGGTA TAGGGACGGCCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGG ATGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGC CCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTG GAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAATG G	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(620): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCA TCACCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACC ACCATCACCATCATCACCGCCACCACCACCACCACCATCACCACCACAAC CACCACCACCACCACCATCACCACCACTACCACCACCACCACCACCATCA CCACCACCACTACCATCATCACCACCAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	231	0.0043	627	c.-25 others(644): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCACCATCACCATCATCACC GCCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCACCACCACCACCATCACCATCACCATCATCACCACCACCACCACC ACCACCATCACCATCATCACCGCCACCACCACCACCATCACCATCATCAC CGCCGCCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA CCATCACCACCACAACCACCACCACCACCACCATCACCACCACTACCACC ACCACCACCACCATCACCACCACCACTACCATCATCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFFO2_chr1_18899280_18961676	18926017	A A	ATGGATGG others(620): Show ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATTGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0001 a0001c0001t0027g0001	2	364	0.0055	627	c.666 others(644): Show c.666-4897_666-4896insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
INSR_chr19_7107265_7299414	7153470	A A	ACACACAC others(620): Show ACACACACCATACACGCACCACACACACACTACATGCACACCTCACACAC CACACCACACACCGCACACACACCACACAAATCACACACACACCACACAC ACCCACGCCACACACCACAGACCACACACACCACACACCCCACACACACC ACACACCACACACACCAAACACACCATACATGCACCACACAACCACATGC ACACCTCACACACCATACCACACACCACACACACCACACAAATCACACAC ATACTACACACACCCACGCCACACACCACACACACACCACACACGCCACA CAACGGACCACACATACACCACACACCACAAACACAACCACACACACACT ATACACACACACCACACACACCACACAACAGACCACACATACACACACCA CACACCACACACACCATACACACACACCACACATACCACACACACCACAC ACACAACCACACACACACCACACACACAACACACAACAGACCACACATAC ACACACCACAAACACAACCACACACACCACACCATACACACACACCATAC ACGCACCACACACACACCACATACACACTTCACACACACCACACACCACA CAAATCACACACACCACCACACCCACGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0156 a0001c0007t0001g0156	1	224	0.0045	627	c.203 others(644): Show c.2030-544_2030-543insGCGTGGGTGTGGTGGTGTGTGTGATTTG TGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGCGT GTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGTGTGT GTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGGTTGTGT GTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTGTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGTAT AGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGTTG TGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGTAT GTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGTGT GCATGTGGTTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGT GGTGTGTGTGGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGCGTGGGT GTGTGTGGTGTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGTGGTGTG GTGTGTGAGGTGTGCATGTAGTGTGTGTGTGGTGCGTGTATGGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132173147	C C	CCTCTCTC others(620): Show CCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCTCCCCCTCCCTCCCTCTCTCTCCCCCTCCTCCCCTCT CTCTCCCCCTCCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCT CTCTCTCCCCTCCCCCTCTCTCCCCCCCTCCCCCTCCCCTCCTCCCCTCC CCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCC CCCTCTCCCCTCCCCCTCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCC CCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCCTC ACCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC TCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCC TTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTC CCCTGTCTCTCTCTCCCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0024 a0001c0006t0024	a0001c0006t0024g0155 a0001c0006t0024g0155	1	141	0.0071	627	c.11 others(648): Show c.1103+4125_*1103+4126insCCCCTCCTTCCCTCTCTCTCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCC TCCCCCTCCTTCCCTCTCTCTCTCCCCTCCCCCTCCCTCCCTCTCTCTCC CCCTCCTCCCCTCTCTCTCCCCCTCCCCCCCTCTCTCTCCCCCTCCCCCC TCTCCCCTCCCCCTCTCTCTCCCCTCCCCCTCTCTCCCCCCCTCCCCCTC CCCTCCTCCCCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCTGTC CCCCTCCCCTCCCCCCCTCTCCCCTCCCCCTCCTCCCCCCTATCCCCCTC CCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTT CCCTCTCCCCCCTCACCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTC TCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTC TCTCCCCCTCCTTCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCT CTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	707442	A A	AGCTGCAG others(620): Show AGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAG GTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTG GAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGAC AGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGT TTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTA ATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCT CCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAG CTTCTCTGCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCT GCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGG TCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGG AGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACA GTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTT TCAGACAGTCCTGGAGACAGGTCTGGCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0007 a0006c0041t0007	a0006c0041t0007g0231 a0006c0041t0007g0231	1	197	0.0051	627	c.38- others(642): Show c.38-3212_38-3211insGTCCTGGAGACAGGTCTGGCTGCTGCAGCT TCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGC TGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTC TGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAG ACAGGTCTGGCTGCTGCAGCTTCTCTGCTGTTAATGGAGTTTCAGACATT CCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTC AGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATG GAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCT GTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTT CTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCT GCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCT GGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGA CAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(620): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCA CTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18975.hp1 NA18983.hp1 others(1): Show NA18966.hp1 NA18975.hp1 NA18983.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0052 a0001c0001t0003g0002 a0001c0001t0003g0052	4	80	0.0500	627	c.-27 others(638): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(620): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCA CTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA19056.hp2 NA19057.hp1 NA18966.hp2 NA19056.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	3	79	0.0380	627	c.-27 others(638): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(620): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATAATATATAATTATATTATATAT TATAATACATTTAATATAATTATATTATAGATTATAATCTATAATATAAT TATATTAATAGTATTATAATATATAATATATTATATATAATTATATTATA ACTTATTATATATAATTATATTATAGATCATAATCTATAATATAATTATA TATAATATGTTATAATATATAATTATATTCTATATATAATTATATATAAT ATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	109	0.0183	627	c.-32 others(638): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATATATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATAGAT TATATAATATATAATATAATTATAGATTATATAATATATAATATAATTAT AGATTATATAATATATAATATAATTATATATTATATAATATGTTTAATAT AATTATATATAATATAATTATATTATATATTATATTATAATTATATAATA TATAATATAATTATATATTATATAATTATATTCTATATAGAATATAATTA TATATTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MPG_chr16_73225_90846	81598	T T	TCTCCGGG others(620): Show TCTCCGGGAAGGCCTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCT CCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACC ACCCTATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCGTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	406	0.0025	627	c.301 others(644): Show c.301-1450_301-1449insGGGAAGGCCTCGTGAATGCTCCCCGCGC TGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCACACTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGGCCTCCTG AATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGG CCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCC GGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCC TATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCC ACCACCCTATCTCCGGGAAGGCCTCGTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACT GACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCTCCTGAATGCTCC CCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGA ATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGC CTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81826	T T	TCTCCGGG others(620): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCGTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC ACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAAT ACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA CGCTGGCCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	379	0.0026	627	c.301 others(644): Show c.301-1199_301-1198insCGCGCTGACCCCTTCTTCCCACCACCCT ATCTCCGGGAAGGCCTCGTGAATGCTCCCCACGCTGGCCCCTTCTTCCCA CCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCCCGCGCTGACCCCTT CTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGG CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82140	A A	ATGCTGGC others(620): Show ATGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA TGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	260	0.0038	627	c.301 others(642): Show c.301-912_301-911insTGCTGGCCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGCCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCG CTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCT CCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCT GAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG GCCTCCTGAATGCTCCCCATGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3			chr16	TogoVar
MPG_chr16_73225_90846	82179	C C	CCCTCCTG others(620): Show CCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACTACC CTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGC TGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCGCGCTGACCCCTTCTTCCCACTACCCTACCTCCGGGAAGCCCTCCTG AATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGG CCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCC GGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCC TACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCC ACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	167	0.0060	627	c.301 others(642): Show c.301-856_301-855insACGCTGGCCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACTA CCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCAC GCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCGCGCTGACCCCTTCTTCCCACTACCCTACCTCCGGGAAGCCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MROH1_chr8_144143016_144266926	144218790	T T	TGCTCTCC others(620): Show TGCTCTCCCCTCCCCTCCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTTCCTCCCCTCCTCTCTTCCCCTCCCTCCTCTTC CTCCCCTCCTCTCCCCTCCTCTCCCCTCCCGTCTCCCCTCCGTCTCCCTC CCTTCTCCCTCCCGTCTCCTCCCTCCCTCCTCCCCTCCTCCCCCTCCTCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCTCCCCTCCTCCCCTCCCTCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCTCCTCCCCTCCTCCCCCTCCTCCCCTCCTCCCCTCCCC TCTCCTCCCCTCCTCCTCTCCTCTCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCTCCTCCTCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTC CTCCCCTCCCCTCCCCCCTCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	138	0.0072	627	c.114 others(646): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCTCCCCTC CTCTCTTCCCCTCCCTCCTCTTCCTCCCCTCCTCTCCCCTCCTCTCCCCT CCCGTCTCCCCTCCGTCTCCCTCCCTTCTCCCTCCCGTCTCCTCCCTCCC TCCTCCCCTCCTCCCCCTCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCTCCCCTCCTCC CCTCCCTCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCCCCTCCT CCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCTCCC CCTCCTCCCCTCCTCCCCTCCCCTCTCCTCCCCTCCTCCTCTCCTCTCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCTCCCCTCTCCTC CTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT C	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43			chr8	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(620): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGC GTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTG GAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGG CGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGAGG GGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTG GAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCC GTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGG TGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGGCACGTGGAGGGGGG CGTGTGGGGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	218	0.0046	627	c.159 others(644): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTG TGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAG GGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAG GGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGC ATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGAGGGGC GCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAG GGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTG TGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGT GGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGGCACGTGGAGGGGGGCGT GTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRB3_chr12_65273683_65471907	65425004	A A	ATATATAT others(620): Show ATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCA AAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTC AATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATATAT AAAACCAAAACCAGAAGACCTAAATATATATATATATATATAAAAAACCA AAACCAGAGGACCTAAATATATATATATAAATATATAAATATATAAATAT ATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTT TATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTT ATATATTTATATAAATATAAATATATAAATATATATAATTATATATATAT TTAGGTCCTCTGGTTTTGGTTATATGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02559.hp1 others(2): Show HG02109.hp2 HG02486.hp1 HG02559.hp1 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0206 a0001c0002t0008g0207 a0001c0002t0008g0208 others(2): Show a0001c0002t0008g0206 a0001c0002t0008g0207 a0001c0002t0008g0208 a0001c0002t0008g0308 a0001c0002t0008g0309	5	308	0.0162	627	c.293 others(646): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGT AAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTC AAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAA AACCAGAAGACCTAAATATATATATATATATATAAAAAACCAAAACCAGA GGACCTAAATATATATATATAAATATATAAATATATAAATATATATATAT AATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATA TATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTT ATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGTCC TCTGGTTTTGGTTATATGTGTATATATATATTTAGGTCCTCTGGTTTTGG T	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEU4_chr2_241804193_241822413	241820036	C C	CGTGTGTC others(620): Show CGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCC TGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGCTGGGTGTGTGCTGGG TGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTG TGCTGGGTGCATCCTCTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTA GGTCGTGTGCTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCC GTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCCTC GTGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCCTCTCATGCGTGTGTC CTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGC GTGTGTCCTGCCTCATGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCCT GTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGT GCATCCTGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGCTGGGTGTGT GCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAG GTCGTGTGCTGGGTGCATCCTCTCATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00733.hp1 others(34): Show HG00140.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01496.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp2 HG03669.hp2 HG03831.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0017 a0008c0014 a0001c0001 a0004c0017 a0008c0014	a0001c0001t0003 a0004c0017t0003 a0008c0014t0003 a0001c0001t0003 a0004c0017t0003 a0008c0014t0003	a0001c0001t0003g0011 a0001c0001t0003g0042 a0001c0001t0003g0043 others(29): Show a0001c0001t0003g0011 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0080 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0149 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0192 a0004c0017t0003g0089 a0008c0014t0003g0189	37	168	0.2202	627	c.29 others(638): Show c.2988_*2989insGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGT GTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGC TGGGTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCC CGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGTGTGTGTCCTGGCT CGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGCGTGTGT CCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATG CGTGTGTCCTGCCTCGTGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCC TCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGG TGCATCCTGTCATGCGTGTGTCCTGCCTCATGGTGTGTGTGTAGGTTGTG TGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTA GGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCATGGCCC GTGTGCTGGGTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTC GTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2624		chr2	TogoVar
NEU4_chr2_241804193_241822413	241820036	C C	CGTGTGTC others(620): Show CGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCC TGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGCTGGGTGTGTGCTGGG TGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTG TGCTGGGTGCATCCTCTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTA GGTCGTGTGCTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCC GTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCCTC GTGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCCTCTCATGCGTGTGTC CTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGC GTGTGTCCTGCCTCATGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCCT GTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGT GCATCCTGTCATGCGTGTGTCCTGGTTCATGGCCCGTGTGCTGGGTGTGT GCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAG GTCGTGTGCTGGGTGCATCCTCTCATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	132	0.0076	627	c.29 others(638): Show c.2988_*2989insGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGT GTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGC TGGGTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCC CGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGTGTGTGTCCTGGCT CGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGCGTGTGT CCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATG CGTGTGTCCTGCCTCGTGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCC TCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGG TGCATCCTGTCATGCGTGTGTCCTGCCTCATGGTGTGTGTGTAGGTTGTG TGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTA GGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGTTCATGGCCC GTGTGCTGGGTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTC GTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2624		chr2	TogoVar

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