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
GAL3ST2_chr2_241771822_241809287	241806536	TCCCCCCT others(480): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG03486.hp1 HG02056.hp2 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0107 a0003c0003t0001g0213 a0002c0002t0002g0107 a0003c0003t0001g0213	2	275	0.0073	-487	c.23 others(11): Show c.2371_*2857del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2250		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806536	TCCCCCCT others(480): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02056.hp1 HG02970.hp1 HG01975.hp2 HG02056.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0002t0001 a0001c0002t0006 a0001c0004t0001	a0001c0002t0001g0016 a0001c0002t0006g0004 a0001c0004t0001g0012 a0001c0002t0001g0016 a0001c0002t0006g0004 a0001c0004t0001g0012	3	278	0.0108	-487	c.-27 others(11): Show c.-2741_-2255del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2656		chr2	TogoVar
OR10A2_chr11_6858057_6879717	6860134	TAAAACCA others(480): Show TAAAACCATCGGATCTCATGAGAGTAATTCGCTATCACAAGAACAGCATG GGAAAGAACTTGCCCCCATGATTCAATTACCTCCTACTGGGTTCCTCCCA CAACATGTGGGAATTCAAGATGAGATTTGGGCAGGACACAGCCAAACCAT ATCAGTTACTCTTTTCTCCCCTTTTCATACTGTACTCTTTGTAAAGAGGT CACCATGATAAGCCCACACTCAAAAGGTAGGGAGTAATGTTCCACCTCCT TATGGGCAAAGTAACTACATAAATTATGTTGAATTCTTCCAGACAGACTT GTTGACTCTTCCTCATTTATTTCTTTACTTAATCATTTATTTACATCATA TATACTCATAAACATTTATTTTATATGTTGGCTTATAAACCAATACTACC TTATTTGTTGCTCAAATATTCCGGCTTTGGCTACTGGGAGCTCTTCATTT GGTTTCTGTGTTCCTTTGACAAACCCAATAATGTGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(152): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19075.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0009 a0002c0003 others(4): Show a0001c0002 a0001c0009 a0002c0003 a0002c0005 a0002c0011 a0003c0001 a0004c0004	a0001c0002t0002 a0001c0002t0019 a0001c0002t0029 others(19): Show a0001c0002t0002 a0001c0002t0019 a0001c0002t0029 a0001c0002t0032 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0009t0002 a0002c0003t0004 a0002c0003t0010 a0002c0003t0011 a0002c0003t0013 a0002c0003t0016 a0002c0003t0031 a0002c0003t0048 a0002c0003t0049 a0002c0005t0017 a0002c0011t0010 a0003c0001t0001 a0003c0001t0007 a0003c0001t0042 a0004c0004t0015	a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0034 others(45): Show a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0019g0001 a0001c0002t0019g0005 a0001c0002t0019g0034 a0001c0002t0029g0005 a0001c0002t0029g0051 a0001c0002t0032g0001 a0001c0002t0043g0001 a0001c0002t0044g0026 a0001c0002t0045g0026 a0001c0009t0002g0026 a0002c0003t0004g0002 a0002c0003t0004g0021 a0002c0003t0004g0038 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0004g0064 a0002c0003t0004g0066 a0002c0003t0004g0068 a0002c0003t0004g0070 a0002c0003t0010g0002 a0002c0003t0010g0021 a0002c0003t0011g0002 a0002c0003t0011g0021 a0002c0003t0013g0002 a0002c0003t0016g0027 a0002c0003t0016g0050 a0002c0003t0031g0002 a0002c0003t0048g0002 a0002c0003t0049g0002 a0002c0005t0017g0039 a0002c0005t0017g0069 a0002c0011t0010g0038 a0003c0001t0001g0003 a0003c0001t0007g0014 a0003c0001t0007g0037 a0003c0001t0007g0054 a0003c0001t0007g0060 a0003c0001t0042g0037 a0004c0004t0015g0029 a0004c0004t0015g0063 a0004c0004t0015g0065	155	466	0.3326	-487	c.-33 others(11): Show c.-3349_-2863del		OR10A2	ENSG00000170790.6	transcript	ENST00000641461.1	protein_coding					2922		chr11	TogoVar
SUPT5H_chr19_39440582_39481670	39443247	ATTGGCCA others(480): Show ATTGGCCAGGCTGGTCTTGAACTCCTGACTTCGTGATCCGCCTGCCTTGG CCTTCCAAAGTGCTGGGATTACAGGCGTGAGTCACTGCGCCCGGCCCTAA TTTTTGTGTTTCCAGTTTAGGGCTATTATGCAACTCTTTCTTTCTAAAAT ATTCTCAAGTATTCTGATGTGCTACCAGAGTTGAGTTCAGAACCACGGAT CCACCAAGGAAGAAACTTCCATGGCTGGGGAAATGACTGTGCCCTCTTTT TTCTGCAGGGAATGGCTTTCTGCAGCAGTGTCTGTAGCGATTTAATATGT AGAATCCTATTTTCTTGTTGTTTTTTTTTTTGAGACGGAGTCTTGCTCTT TTGTCACAGCAACCTCCACCTCTCAAGTTCAAGAGATTCTCCTGCCACAG CCTCCCGAGTAGCTGGGATTACGGGTGTGCGCCACTACGCCACCTGGCTA ATTTTTGTATTTTTTAGTAGAGACAGGGTTTTACCATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03516.hp1 HG02257.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0198 a0001c0001t0001g0148 a0001c0001t0001g0198	2	376	0.0053	-487	c.-24 others(11): Show c.-2477_-1991del		SUPT5H	ENSG00000196235.14	transcript	ENST00000432763.7	protein_coding					2334		chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129088223	GGGTGTCC others(480): Show GGGTGTCCTCCATGACCGGGGTGTCCTCTATGACTGGGTGTCCTCCCTGA CCGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCT GACCGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGGTGTCCTC CATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACTGGGGTGTC CTCTATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTG TCCTCCATGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGG TGTCCTCTATGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGG GTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGACC GGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCCTG ACCGGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp1 HG03239.hp1 others(3): Show HG02040.hp2 HG02083.hp1 HG03239.hp1 HG03831.hp2 HG04204.hp2 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0008 a0001c0001 a0001c0002 a0007c0008	a0001c0001t0005 a0001c0001t0016 a0001c0002t0011 others(1): Show a0001c0001t0005 a0001c0001t0016 a0001c0002t0011 a0007c0008t0004	a0001c0001t0005g0031 a0001c0001t0005g0038 a0001c0001t0005g0071 others(3): Show a0001c0001t0005g0031 a0001c0001t0005g0038 a0001c0001t0005g0071 a0001c0001t0016g0072 a0001c0002t0011g0001 a0007c0008t0004g0043	6	89	0.0674	-487	c.144 others(19): Show c.1444-4008_1444-3522del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
VAV2_chr9_133756894_133997324	133827437	CTGAGTGG others(480): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGG GCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCC AGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	172	0.0058	-487	c.449 others(17): Show c.449+6348_449+6834del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827917	CTGAGCGG others(480): Show CTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGA GTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGT GGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGG GCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACC ACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0026 a0002c0029t0026	a0002c0029t0026g0161 a0002c0029t0026g0161	1	195	0.0051	-487	c.449 others(17): Show c.449+5868_449+6354del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
ATP11A_chr13_112685038_112892168	112862986	GAGTGCAG others(479): Show GAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGTGCAGT AGTTCAGTGCGGCCCATGCAGCTTCCCAGCAGGGTCCATCACCACCTGCA CAGTAATTCAGCGTAGCACATGCAGTTTCCCAGCGGGGTCCATCACCACC TGCACAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCAC CACCTGCACAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCA TCACCACCTGCGCAGTAATTCAGTGCAAACCATGCAGCTTCCCAGCGGGG TCCATCACCACCTGCGCAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGC GGGGTCCATCACCACCTGCGCAGTAATTCAGTGCGGCCCATGCAGCTTCC CAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCAGGCCCTGCAGC TTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0038 a0001c0005t0038	a0001c0005t0038g0172 a0001c0005t0038g0172	1	245	0.0041	-486	c.299 others(17): Show c.2991+452_2991+937del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134849357	TATCACAC others(479): Show TATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACGGGA TCAGACCTCCTGGGGAGCACGGGATCACACCTCCCAGGAAGCACAGTATC ACACCTCCCAGGAAGCACGGGATCACACCTCCCAGGAACCACGATATCAC ACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAACCATGATATCACAC CTCCCAGGGAGCACAGGATCAGACCCCCCAGGGAGCACAGGATCACACCT CTCAGGAAGAACAGGATCACACCTCCCGGGGAAGACGATAGCACACCTCC CAGCGAGTGTGAGATCACACCTCCCAGTGAGCGTGGGATCACACCTCCCA GGAAGCATGGTATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGG AAGCACGGGATCACACCTCCCAGGAAGCATGGGATCACACCTCCCAGGGA GCACCAGATCACACCTCCCAGGAACCACGATATCACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01433.hp2 NA19030.hp1 HG00558.hp2 HG01433.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0028 a0001c0001 a0001c0004 a0001c0028	a0001c0001t0001 a0001c0004t0011 a0001c0028t0038 a0001c0001t0001 a0001c0004t0011 a0001c0028t0038	a0001c0001t0001g0212 a0001c0004t0011g0080 a0001c0028t0038g0138 a0001c0001t0001g0212 a0001c0004t0011g0080 a0001c0028t0038g0138	3	270	0.0111	-486	c.70 others(11): Show c.7055_*7540del		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4515		chr9	TogoVar
CTNND2_chr5_10966836_11909446	11816681	GGGGGAGA others(479): Show GGGGGAGAGAGGGGGGAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAG GGGGAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGGGGAGAGAGAGAG AGAGAGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGAGGAGG AGAGAGAGAGAGAGGGGGGGAGAGAGGGGGGAGAGAGAGAGAGAGAGGAG GAGAGAGAGAGAGAGGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAG AGGAGGAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGAGGAGAGAGAG AGAGGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGGAGGAGG AGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAG GAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGAGGAGGAGAGAG AGAGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02258.hp1 others(9): Show HG00738.hp1 HG00738.hp2 HG02258.hp1 HG02647.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0017 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0003t0001g0007 a0001c0005t0001g0020 a0001c0007t0001g0002 a0002c0008t0001g0014	12	21	0.5714	-486	c.38- others(17): Show c.38-84895_38-84410del		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21						chr5	TogoVar
DLGAP2_chr8_732628_1713476	992253	AGACCCCC others(479): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT ACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0021 a0002c0001t0003g0021	1	30	0.0333	-486	c.73+ others(17): Show c.73+84337_73+84822del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992843	GCCCAGAC others(479): Show GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	-486	c.73+ others(17): Show c.73+84881_73+85366del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992847	AGACCCCC others(479): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	34	0.0294	-486	c.73+ others(17): Show c.73+84980_73+85465del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375507	ACCTCTCC others(479): Show ACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAA CGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGG TTAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATT TGGGTTAACGACCCCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTA CATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCT CCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCC ACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGC CCCCACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACT GAGCCCCCACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAG AACTGAGCCCCCACCTCCTACATTTGGGTTAACGACC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01361.hp2 HG02074.hp2 others(2): Show HG01071.hp1 HG01361.hp2 HG02074.hp2 HG02698.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0009 a0001c0002t0023 a0001c0002t0027 others(2): Show a0001c0002t0009 a0001c0002t0023 a0001c0002t0027 a0001c0003t0001 a0002c0004t0018	a0001c0002t0009g0039 a0001c0002t0023g0005 a0001c0002t0027g0023 others(2): Show a0001c0002t0009g0039 a0001c0002t0023g0005 a0001c0002t0027g0023 a0001c0003t0001g0025 a0002c0004t0018g0010	5	38	0.1316	-486	c.106 others(21): Show c.106+116733_106+117218del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EHHADH_chr3_185185624_185259049	185230540	CTAAACAA others(479): Show CTAAACAAAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTT TATATGAAATATCCAGAATAGGCAAAACATGCTAAACAAAAAAAGCCAGT CACAGGAGACCACATATCGTATGATTCTGTTTATATGAAATATCCAGAAT AGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCA TATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACA AAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATGA AATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGA GACCACATATCGTATGATTCTGTTTATATGAAATATCCAGAATAGGCAAA ACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCATATGATT CTGTTTATATGAAATATCCAGAATAGGCAAAACATGA	C C	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	341	0.0029	-486	c.352 others(16): Show c.352-1483_352-998del		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6						chr3	TogoVar
EHHADH_chr3_185185624_185259049	185230658	GTATGATT others(479): Show GTATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAAC AAAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATG AAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGG AGACCACATATCATATGATTCTGTTTATATGAAATATCCAGAATAGGCAA AACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCGTATGAT TCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAA GCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATGAAATATC CAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGAGACCAC ATATCATATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGA TAAACAAAAAAAGCCAGTCACAGGAGACCACATATCA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0183 a0002c0002t0007g0183	1	180	0.0056	-486	c.352 others(17): Show c.352-1601_352-1116del		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6						chr3	TogoVar
INPP5A_chr10_132532787_132788480	132771903	AGAGGCCA others(479): Show AGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTG ACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGC ACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACT CAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGA CACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGA CAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGT GGGACGGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAA GAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCA CGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCAC CCCATGAAGAGTGGGACGGACACTCAGCACTGACACG	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	197	0.0051	-486	c.978 others(17): Show c.978-5759_978-5274del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124506682	GAAGATTT others(479): Show GAAGATTTCAGGTTGGCGGGTAGGGAAGATTTCAAGTGGGGTGGGTAAGG AGGATTTCAGGTTGGGGGGTAGGGAAGATTTCAAGTGGGGTGGGTAAGGA GGATTTCAGGTTGGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTAGGGGGTAGGGAGGATTTCAGGTGGAGAGGTAGACAGGA TTTCAGGTTGGGGGGTAGGGAGGATTTCAGGTTGGGGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTC AGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCA GGTGAGGGGGGTAGGGAGGATTTCAGGTGTAGGGGTAGACAGGATTTCAG GTGGGGGGGTAGGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGT CGGGGGGTTAGAGAGGATTTCAGGTGGGAGGGTAGGC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	256	0.0039	-486	c.624 others(17): Show c.624+8556_624+9041del		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
PCMTD2_chr20_64250748_64281226	64270716	ATAAAATG others(479): Show ATAAAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGTG ATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGT TGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGT TCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAG GTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACG TGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGG CATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGA AGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTG AGGAAGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCT TCTGAGGAAGGGCATGTGAGGTGTTCGTTGTGATACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp1 HG01169.hp1 others(5): Show HG00099.hp1 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01891.hp1 HG03654.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011	a0001c0001t0005g0010 a0001c0001t0005g0101 a0001c0001t0009g0010 others(1): Show a0001c0001t0005g0010 a0001c0001t0005g0101 a0001c0001t0009g0010 a0001c0001t0011g0043	8	325	0.0246	-486	c.707 others(17): Show c.707-2502_707-2017del		PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64270719	AAATGGTA others(479): Show AAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGTGATA CGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGT GATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCG TTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTG TTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGA GGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCAT GTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGG GCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGG AAGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCT GAGGAAGGGCATGTGAGGTGTTCGTTGTGATACGTAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG02280.hp2 others(1): Show HG00639.hp2 HG02145.hp1 HG02280.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0097 a0001c0001t0004g0098 others(1): Show a0001c0001t0004g0076 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099	4	230	0.0174	-486	c.707 others(17): Show c.707-2473_707-1988del		PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
RASA3_chr13_113972783_114137623	114083662	ACGGGGAA others(479): Show ACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04115.hp2 HG04228.hp2 HG02738.hp1 HG04115.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0001 a0001c0010t0002 a0001c0005t0001 a0001c0010t0002	a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0010t0002g0052 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0010t0002g0052	3	59	0.0508	-486	c.56- others(16): Show c.56-10311_56-9826del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114083824	ACGGGGAA others(479): Show ACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02148.hp2 HG01993.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0031 a0001c0003t0003g0022 a0001c0002t0002g0031 a0001c0003t0003g0022	2	59	0.0339	-486	c.56- others(16): Show c.56-10473_56-9988del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114084941	GTCCTCGC others(479): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	55	0.0182	-486	c.56- others(17): Show c.56-11590_56-11105del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
ANK2_chr4_113044653_113388736	113213936	ACAAAATG others(478): Show ACAAAATGCTGTTTTATTTATTTTTTTTTTTTATTTTTTTTTTAAGTACA ATTTCCATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAGTCTTTAAGA ACTCAGCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCAGCACCCGCA GGTCTAAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTCACGAGATCG ATTCCTGACTACTTTGCTGTGAATTGCACAACTCACACAGTAATGTAGCT TCACATACAGCTTGGGAAGCACATAGGCATCGAAGACGCTCGCTTCAGAA ATGTCCCTGACTGCTGCGGCCTCCACTATGTTTCGAATGACGAATTTCTT AATGGCCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGCAGCGAATAG GCTGCACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTCCTTCTTTTC TTTGTCATCTTGGAGGCACGGACCGGAGAGAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00642.hp1 others(26): Show HG00280.hp1 HG00558.hp2 HG00642.hp1 HG01069.hp1 HG01175.hp2 HG01433.hp2 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG02040.hp1 HG02738.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 NA18612.hp1 NA18940.hp2 NA18960.hp1 NA18966.hp1 NA18981.hp1 NA18986.hp1 NA19060.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0017 a0018 a0020	a0001c0001 a0001c0004 a0001c0013 others(8): Show a0001c0001 a0001c0004 a0001c0013 a0002c0003 a0002c0035 a0003c0006 a0004c0005 a0007c0012 a0017c0028 a0018c0029 a0020c0016	a0001c0001t0001 a0001c0004t0001 a0001c0013t0005 others(8): Show a0001c0001t0001 a0001c0004t0001 a0001c0013t0005 a0002c0003t0001 a0002c0035t0001 a0003c0006t0002 a0004c0005t0001 a0007c0012t0001 a0017c0028t0001 a0018c0029t0001 a0020c0016t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0039 others(26): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0004t0001g0147 a0001c0013t0005g0096 a0002c0003t0001g0057 a0002c0003t0001g0115 a0002c0003t0001g0153 a0002c0035t0001g0169 a0003c0006t0002g0129 a0004c0005t0001g0019 a0007c0012t0001g0148 a0017c0028t0001g0084 a0018c0029t0001g0140 a0020c0016t0001g0132	29	176	0.1648	-485	c.384 others(19): Show c.384+14844_384+15328del		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	4/45					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD30B_chr18_14743172_14859667	14857278	CCACTTCC others(478): Show CCACTTCCCAGACGGGGCGGCTGGGCAGAGGCGCTCCTCACCTCCCAGAT GAGGCGGCCTGGCAGAGGAACTCCTCACCTCCCAGATGATGGGCAGCTGG GCAAAGGCGCTCCTCACCTCCCAGACTGGGCGGCCAGGCAGAGGTGCTCC TCGCCTCCCACATGGGGTGGCCGGGCAGAGGCACTCCTCACCTCCTAGAT GGGGTGGCTGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGAGACCAGGA AGAGGCGCTCCTCACCTCCCAGATGGGGCGGGCTGGCAGAGGCGCTCCTC ACCTCCCAGATGATGGGCAGCTGGGCAAAGGCGCTCCTCACCTCCCAGAC TGGGCGGCCAGGCAGAGGCGCTCCTCGCCTCCCACATGGGGTGGCTGGGC AGAGGCGCTCCTCACCTCCTAGATGGGGTGGCCGGGCAGCGGCGCTCCTC ACCTCCCAGACGGGGAGACCAGGAAGAGGTGCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02615.hp1 HG02630.hp2 others(3): Show HG01243.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG03139.hp1	a0008 a0013 a0023 a0008 a0013 a0023	a0008c0010 a0013c0047 a0023c0043 a0008c0010 a0013c0047 a0023c0043	a0008c0010t0001 a0008c0010t0008 a0013c0047t0001 others(1): Show a0008c0010t0001 a0008c0010t0008 a0013c0047t0001 a0023c0043t0001	a0008c0010t0001g0259 a0008c0010t0001g0260 a0008c0010t0008g0008 others(3): Show a0008c0010t0001g0259 a0008c0010t0001g0260 a0008c0010t0008g0008 a0008c0010t0008g0009 a0013c0047t0001g0253 a0023c0043t0001g0097	6	314	0.0191	-485	c.31 others(11): Show c.3121_*3605del		ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding					2612		chr18	TogoVar
ASMT_chrX_1610059_1648081	1636921	GATGGGGA others(478): Show GATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGC ACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAG CTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGG GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	221	0.0045	-485	c.910 others(15): Show c.910+362_910+846del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8						chrX	TogoVar
DIP2C_chr10_269201_694668	417629	AGGGCTCG others(478): Show AGGGCTCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTCGGATA GGCCTCCCTGTCCGCCTGTGCCTGTCGGCTCAAATAGGCCTCCCTGTCTG CCTGCGCCTGTCAGGGCTCGGATAGGCATCCCTGTCCACCTGCACCTGTC AGGGCTCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCGCGGACA GGCCTCCCTGTCCACCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTC CACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGTTCCTG TCAGGGCTTCGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGA TAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCGCGGACAGGCCTCCCTG TCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTTCACTGCACCT GTCAGGCCTCAGATAGGCATCCCCGTCCACCTGTCG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0065 a0001c0017t0002g0065	1	88	0.0114	-485	c.739 others(16): Show c.739+951_739+1435del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36						chr10	TogoVar
ERC1_chr12_986223_1500931	1293071	AAGGCGGA others(478): Show AAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCAGCCTGG GTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATTAACCAGGC ATGGCTGGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCT GAGGCGGGCAGATCACGAGGTCAGAAGATTGAGACCATCCTGGCTAACAC GGTGAACCCCGTCTCTACTAAAAATACAAAACATTAGCCAGGCGTGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATAGCA TCAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACT CCAGCCTGGGCGACAGAGCAAAACTCCATCTCAAACAACAACAACAACAA CAACAACAATTAGCCAGGCGTGGTGGCGTGCGCCTGTAATCCCAGCTACT CAGGAGGCCGAGGCAGGAGAATCACTTGAACCCAGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG04199.hp1 NA20129.hp2 others(1): Show HG02257.hp1 HG04199.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007	a0001c0003t0002g0004 a0001c0003t0002g0021 a0001c0003t0006g0114 others(1): Show a0001c0003t0002g0004 a0001c0003t0002g0021 a0001c0003t0006g0114 a0001c0003t0007g0088	4	160	0.0250	-485	c.278 others(19): Show c.2780+3080_2780+3564del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
HEATR4_chr14_73473484_73563947	73515671	CAAAAAAA others(478): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTCCTGTGAGACTCCAGGGC AGTTTAGCAAAGATGCCCATACAATGCATCTCCTCCAAATGGTCCCCACC AGCTTGGACGTGCTGGGGGACTCAGCCACTCTGCTGAGGCCTCCCTCCTT TCTGGGGTAGGGTGTGTGCAACTAGGAGCTGTGGAACCACCTCTGACAGG CCAGCTCACACTTTGCCATGTGACGCTCCCCGACTTCTCTCAGGCGATTT GAAATCCCTCCTGAAGAGATGAGAAGTAGCTGAATTAACCCCATTTCTCC TATATCCCTCTGCTCAAGGAGTTAAAATGGATTTGCGGTGAGCAAGTCTT AGATCTCTGATATTTAACCTCATAGGAATAAAAAATACAACTGCCAACTT TTACTTTGGTTCCAGTCCTTTGGGTTATAGCTGGATAGAAACACATCCAC TAGCCATCTTCCACATCAACAGTCATCAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02572.hp1 others(9): Show HG01109.hp1 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG03471.hp1 NA18906.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0014	a0001c0003 a0003c0007 a0004c0012 others(2): Show a0001c0003 a0003c0007 a0004c0012 a0009c0015 a0014c0020	a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 others(5): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0003c0007t0003 a0004c0012t0004 a0009c0015t0001 a0009c0015t0008 a0014c0020t0005	a0001c0003t0003g0229 a0001c0003t0004g0254 a0001c0003t0010g0144 others(9): Show a0001c0003t0003g0229 a0001c0003t0004g0254 a0001c0003t0010g0144 a0003c0007t0003g0151 a0003c0007t0003g0154 a0003c0007t0003g0155 a0003c0007t0003g0202 a0003c0007t0003g0250 a0004c0012t0004g0178 a0009c0015t0001g0034 a0009c0015t0008g0354 a0014c0020t0005g0069	12	130	0.0923	-485	c.121 others(19): Show c.1211-1922_1211-1438del		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17						chr14	TogoVar
LRBA_chr4_150259435_151020284	150660916	GGGACACA others(478): Show GGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCA GAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCC CATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAAT AAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAGTTTCCAAATGAGGG TTACAGTGTATACCCTGAACCTGATACAGTACTTAATAAATAGCATGATT TGACTATGTAAAAAGCAAACAGAGGCCAGGCATGGTGGCTCACACCTGTA ATCCCAGCAATTTGGGAGGCTGAGGCGGGTCAATCACCTGAGGTCAGGAG TTCATGACCAGCCCGGGCAACATGGTAAGACCCCATCTCTACAAAATTGG CCTGGTGTGGCGGCAGGCACCTATAATCCCAGCTATTCAGGAGGCTGAGG CGGAAGAATTGCTTGAAGCTGGGAAAGCCAGGAGGC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0114 a0002c0022t0001g0114	1	178	0.0056	-485	c.592 others(21): Show c.5921+22150_5921+22634del		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56						chr4	TogoVar
NPIPB12_chr16_29478534_29511408	29484628	CGGCAGGT others(478): Show CGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCAT CTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAA GGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACG CTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTG GAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCGGCT GATGGTGGAAGCGGAATCCGCAGACGCTCAGCAGGTATCTTGATATTATC ATCTGCTGAGAGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGG AAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	20	0.0500	-485	c.136 others(9): Show c.1363_1847del	p.Phe others(5): Show p.Phe455fs	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2510/3605	1363/2787	455/928			chr16	TogoVar
TPO_chr2_1408463_1548673	1417156	AAGTATCA others(478): Show AAGTATCAGGCCAGTGCCGTGACTCACATCTGCAATCCCAACACAGTATC ATCAGGCCAGTGCCGTGACTCACATCTGCAATCCCAACACAGTATCAGGC CAGTGCCGTGACTCACATCTGCAATCCCAACACAGTATCATCAGGCCAGT GCCGTGACTCACATCTGCAATCCCAACACAGTATCAGGCCAGTGCCGTGA CTCACATCTGCAATCCCAACACAGTATCAGGCCAGTGCCGTGACTCACAT CTGCAATCCCAACACAGTATCATCAGGCCAGTGCCGTGACTCACATCTGC AGTCCCAACACAGTATCAGGCCAGTGCCGTGACTCACATCTGCAATCCCA ACACAGTATCAGGCCAGTGCCGTGACTCACATCTGCAATCCCAACACAGT ATCATCAGGCCAGTGCCGTGACTCACATCTGCAATCCCAACACAGTATCA GGCCAGTGCCGTGACTCACATCTGCAATCCCAACAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03654.hp2 HG03453.hp1 HG03654.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0009 a0003c0003 a0007c0009	a0003c0003t0004 a0007c0009t0001 a0003c0003t0004 a0007c0009t0001	a0003c0003t0004g0012 a0007c0009t0001g0123 a0003c0003t0004g0012 a0007c0009t0001g0123	2	128	0.0156	-485	c.94+ others(15): Show c.94+2955_94+3439del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCG1_chr21_42214140_42302244	42283723	ACCCAGAT others(477): Show ACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGA AGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCC CCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTT GCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGC CTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCAC CTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0274 a0001c0002t0004g0274	1	188	0.0053	-484	c.735 others(15): Show c.735-814_735-331del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ABR_chr17_998519_1184981	1052493	GGAGGGTT others(477): Show GGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGG TGCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGG AAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGG CTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGG GAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGACGGC TCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAG GGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAG AGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAG GGTTCAGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCC GGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp1 HG02135.hp2 others(8): Show HG00741.hp1 HG02109.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02897.hp1 HG03491.hp2 HG06807.hp2 NA18945.hp2 NA19056.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0036 a0001c0001t0065	a0001c0001t0002g0137 a0001c0001t0003g0076 a0001c0001t0004g0249 others(8): Show a0001c0001t0002g0137 a0001c0001t0003g0076 a0001c0001t0004g0249 a0001c0001t0005g0316 a0001c0001t0006g0075 a0001c0001t0006g0140 a0001c0001t0007g0334 a0001c0001t0010g0261 a0001c0001t0014g0102 a0001c0001t0036g0043 a0001c0001t0065g0237	11	336	0.0327	-484	c.156 others(19): Show c.1562-2343_1562-1860del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22						chr17	TogoVar
ABR_chr17_998519_1184981	1052522	TTCACAGG others(477): Show TTCACAGGGTCAGAGGGAGGGTGCCGGAAGGGGCTGGGGGAGGGGTCACA GGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGA GGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTC CGGAAGGGGCTGGGGGACGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAG GGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAG GGGTCACAGGGTCAGAGGGAGGGTTCAGGAAGGGGCTGGGGGAGGGCTCA CAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGT CAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAGGGC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0159 a0001c0001t0067g0159	1	308	0.0032	-484	c.156 others(19): Show c.1562-2372_1562-1889del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22						chr17	TogoVar
CNST_chr1_246561456_246673595	246620149	ACTACAGG others(477): Show ACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCTCTGG GCACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCT CTGGGAACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATG GGCTCTGGGAACACTACAGGGAGGACGGCTTCAGTCGTGCATACACACGA TGGGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACAC ACGATGGGCTCTGGGCACACTCTACAGGGAGGACGGCTTCAGTCGTGCAT ACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCATCGTGGT GCATACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCATCG TGGTGCATACACACGATGGGCTCTGGGCACACTACAGGGAGGACGGCTTC AGTCGTGCATACACACGATGGGCTCTGGGAACACT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	273	0.0037	-484	c.380 others(16): Show c.380-1259_380-776del		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
DIRAS1_chr19_2709567_2726372	2713820	TCCCATCC others(477): Show TCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACCCACCACC TCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCATCACCTCCTCC ACCCTTCACACCATCCCTCACTTCCTACACCCACCACTTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCC ATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTACACCCACCACCTTCTCAACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG02738.hp2 NA18942.hp1 others(3): Show HG01928.hp1 HG02738.hp2 NA18942.hp1 NA19001.hp2 NA19084.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002	6	404	0.0149	-484	c.29 others(11): Show c.2906_*3389del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					746		chr19	TogoVar
DOCK8_chr9_209865_470255	400449	CAGCATCT others(477): Show CAGCATCTTCACCATCACCACCACCCACCTCCTTCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CAGCATCTTCACCATCACCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCAC CACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCT TCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCCAC CATCACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCC CCACTACCAACAGCTCCTTCACCATCACCACAACA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0145 a0003c0001t0001g0145	1	254	0.0039	-484	c.323 others(19): Show c.3234+1191_3234+1674del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47						chr9	TogoVar
EXOC2_chr6_480154_698139	601890	CCACACAC others(477): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACA	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19007.hp2 NA19012.hp1 NA18954.hp2 NA19007.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0004 a0001c0001t0003 a0001c0001t0006 a0001c0002t0004	a0001c0001t0003g0246 a0001c0001t0006g0033 a0001c0002t0004g0250 a0001c0001t0003g0246 a0001c0001t0006g0033 a0001c0002t0004g0250	3	263	0.0114	-484	c.743 others(17): Show c.743-3149_743-2666del		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27						chr6	TogoVar
EXPH5_chr11_108500435_108598768	108586363	ACAAATAA others(477): Show ACAAATAAAACGGTAGTGTTGAAGAACAAAATAGTGGTTGCCAGGATAAG TTACTCCCTCCCTGATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCC TCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCATC CTCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCC TCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCC CATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCT TTCCTCCCTTAACTGCTGTTAAATGCATCGTTTCAAAGTGAAAACCAAGG TAAGCTTTATCAATATAAAAAAACACAACTTTTTGTTGGGGTGCAGAGAA TTTGGTCACTGTCATCTCCCATTTCCTCTTTCATCTAGAAAGCCTAACAC ACCATGGAATGAGGAAGCTGGCTCCTGTGATCTGT	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0123 a0004c0004t0001g0123	1	312	0.0032	-484	c.119 others(17): Show c.119+6571_119+7054del		EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5						chr11	TogoVar
GLG1_chr16_74442440_74612114	74523276	ATACATTA others(477): Show ATACATTAAGGGTTAAGATTCTTTATTCAAGTATCCATTTATGTATGAAT CTGCTTCTACCACACTGCCTTAATTACCGCTGCTTTACGGTAACTCTTCC ACCAGGTAGTACAGTCTCTCTGCTTGGTTCTTCAAGATCGCTTTGGCTGT TACAGGTACTCTGTGTTTCCACATAAATTTTAAAATCACGTGGCAATTTT GCTAACAATAAATATGGGATTGCACAGAATCTATAGTCAATGTAATGAGC ATTCACATTTTTTATAACACCAAGTCTTCCAACTCATGAGCACAACTGCT CATTTATTTATTTAAAGGCCTTCAAATTTCTCTTAATAATATTTTACACT TATCTGTAGAGTGGTCTTACACATTTTTGTTAGATTTATTCTTAAGTATT TGATGCTTTACATGTTACTTTAAAATAATATTAATTTTTAATATATTTTT AAAATTGGCTTGTTAATAATATATAAAAGTACAAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	340	0.0029	-484	c.471 others(17): Show c.471+8361_471+8844del		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	2/25						chr16	TogoVar
NDUFB7_chr19_14561078_14577066	14568501	TCCCTCTT others(477): Show TCCCTCTTTTGTCTTGAACTTATAATCAGCTAGCAGCAAGGACTTTAGAC TGCCTACTGTGTGCTTAGTGGTGGGGATACAGCAGGCAACACAACACACA AGTGTCCCTGCCCTCAGAGGGAGACACAGAACAGACAGAAGACAGAGCAC CACAGCGTGTCTGGCAGTGCTTAAGTATTAGGGAGACCAGCCTGGGGAGC ACAGAAAGATCCCATGTCCAGAAAAAAATAAAATTATCTTTGCACGGTAG TGCACACGGAGTATCCAGAGCTACTCGGGAGGATCGCTTGAACCCAGGAG TTTGAGGCTGCAGTGGGTGATAACCACCCCACTGCACTCCAGCCTAAGCA ACAGAGCGAGAGCCCATCTCTACAAACAAATAAATAAATATGGGCCAGGC GCGGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCAGGTG GATCACTTGAGGTCAGAAGTTCGAGATCAGCCTGG	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	400	0.0025	-484	c.113 others(17): Show c.113-2052_113-1569del		NDUFB7	ENSG00000099795.7	transcript	ENST00000215565.3	protein_coding	1/2						chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149133	ACTCCTAC others(477): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0026 a0014c0014t0001g0026	1	209	0.0048	-484	c.901 others(15): Show c.901+242_901+725del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
POLR2E_chr19_1081574_1100375	1092440	ACCTGTAA others(477): Show ACCTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACGATGTC AGGAGATCGAGACCACCCTGGCTAACAAGGTGAAATCCCGTTTCTACTAA AAATACAAAAAATTAGCCCACGCCCGCAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGGGCAGAG ATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAA AAAAATTAATTAATTAATTAATAAACAATACAAAAAGAAAAAGTAGCCAG GTGAGATGGTGTATGCCTGTAAACCTAGCTTTTTGGGAGGCTGAGGTGGA AGGATTGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGC CACTGCACACTCCAGCCTGGGTGACAGAGGGAGACTCAGTCTCAAAAAAA AAAAAAAAAAAAAAGACTGGGCGCGGTGGCTCACG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	438	0.0023	-484	c.232 others(15): Show c.232+980_233-534del		POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding	2/7						chr19	TogoVar
SEH1L_chr18_12943011_12992531	12980027	GGGCGGCT others(477): Show GGGCGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCCCCCCACCTCCCTCCCGGTCGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCAGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCC CCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	382	0.0026	-484	c.761 others(17): Show c.761+1138_761+1621del		SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
TECR_chr19_14524594_14570980	14568501	TCCCTCTT others(477): Show TCCCTCTTTTGTCTTGAACTTATAATCAGCTAGCAGCAAGGACTTTAGAC TGCCTACTGTGTGCTTAGTGGTGGGGATACAGCAGGCAACACAACACACA AGTGTCCCTGCCCTCAGAGGGAGACACAGAACAGACAGAAGACAGAGCAC CACAGCGTGTCTGGCAGTGCTTAAGTATTAGGGAGACCAGCCTGGGGAGC ACAGAAAGATCCCATGTCCAGAAAAAAATAAAATTATCTTTGCACGGTAG TGCACACGGAGTATCCAGAGCTACTCGGGAGGATCGCTTGAACCCAGGAG TTTGAGGCTGCAGTGGGTGATAACCACCCCACTGCACTCCAGCCTAAGCA ACAGAGCGAGAGCCCATCTCTACAAACAAATAAATAAATATGGGCCAGGC GCGGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCAGGTG GATCACTTGAGGTCAGAAGTTCGAGATCAGCCTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	330	0.0030	-484	c.26 others(11): Show c.2631_*3114del		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding					2522		chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129856428	GGAGTCCG others(477): Show GGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTT GTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTG CCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGAT GGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTC CGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACA GAGTCCGGGGGAACGGGATGGGTGCCCTTATAACA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	85	0.0118	-484	c.79+ others(17): Show c.79+46349_79+46832del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129858142	GAACGGGA others(477): Show GAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGT AACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGG AACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGCC CTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCC GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGT AACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGA AACGGGATGGGTGCCCTTGTAACAGAGTCCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0086 a0001c0001t0022g0086	1	92	0.0109	-484	c.79+ others(17): Show c.79+44635_79+45118del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TMEM33_chr4_41930429_41965803	41958500	AGATGTGT others(477): Show AGATGTGTAAAAAATGGTACTTAAAGTGTTTTCATGATCATTTTGTAGGT AGACTAGATATAGCCCGTTGAACCTCTTTTAAAATTTAGACTTTTGATAG TAATATAAAAGCATATTGAAATTTGTAGATATTATATGAGGAATGGCACC TAGATTTGAAAATTATGCTTGGCTTGTAGAGACAACTAGTTTCTCTCGCT CTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGATTCTCACTCAGTTGC CCAGGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAACCTCTGCCTC CTGGGTTAAAGCGATTCTCATGCCTCAGCCTCCCTAGTAGCTGAGACTAC AGGCGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAG GATTTCACCATGTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGGCC TCAAGTGATCTGCCCGCCTCGACCTCCCAGAGTGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02896.hp1 HG03139.hp1 HG02572.hp1 HG02896.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019	a0001c0001t0017g0014 a0001c0001t0018g0014 a0001c0001t0019g0014 a0001c0001t0017g0014 a0001c0001t0018g0014 a0001c0001t0019g0014	3	196	0.0153	-484	c.43 others(11): Show c.4302_*4785del		TMEM33	ENSG00000109133.14	transcript	ENST00000504986.6	protein_coding	7/7				4302		chr4	TogoVar
TRIM46_chr1_155168849_155189970	155188788	GGGGGGGC others(477): Show GGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGTGCCGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGG GGGCCGGCCTGGTGTCCGGTGCCGAGGTGACACCGTGGGCTGGGGGGGCG GTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGACACCGTGTGC TGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGGCCGAGGTGA CACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCT CTGTTTTAAATATACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGACG GCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	346	0.0029	-484	c.45 others(11): Show c.4599_*5082del		TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding					3819		chr1	TogoVar

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