Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CCDC6_chr10_59783747_59911556	59882189	GGGGGGAG others(95): Show GGGGGGAGAAGGAAAGGTAAAGCCGCGGGGAGTAAGGAAAGGAAAGTCCG GGGTAGTAAGGAAAGGTAAAGCCGGGGGGATGAATGGAAAGGTAATGCTC GGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0035 a0001c0001t0028g0035	1	281	0.0036	-102	c.303 others(19): Show c.303+23831_303+23932del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882212	CGCGGGGA others(95): Show CGCGGGGAGTAAGGAAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGCC GGGGGGATGAATGGAAAGGTAATGCTCGGCGGGAGAATGGAAAGGAAAGC CGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18990.hp1 NA19058.hp1 HG00735.hp1 NA18990.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0007 a0001c0006t0002 a0001c0006t0005 a0001c0001t0007 a0001c0006t0002 a0001c0006t0005	a0001c0001t0007g0111 a0001c0006t0002g0236 a0001c0006t0005g0265 a0001c0001t0007g0111 a0001c0006t0002g0236 a0001c0006t0005g0265	3	286	0.0105	-102	c.303 others(19): Show c.303+23808_303+23909del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CELF1_chr11_47460937_47558132	47541692	AAGAAAGA others(95): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAAC GAAAGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGA ACG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01517.hp2 HG02451.hp1 others(5): Show HG01433.hp2 HG01517.hp2 HG02451.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0024 a0001c0003t0011	a0001c0001t0001g0319 a0001c0001t0002g0274 a0001c0001t0002g0275 others(5): Show a0001c0001t0001g0319 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0282 a0001c0001t0010g0101 a0001c0001t0010g0102 a0001c0001t0024g0320 a0001c0003t0011g0308	8	338	0.0237	-102	c.-15 others(21): Show c.-154+11198_-154+11299del	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CEP170_chr1_243119428_243260281	243139493	TGTATTTC others(95): Show TGTATTTCTACCTTCTTTATTTTTTAATAAAGAAAAAGTCCTTAATTTTA ATATACTCAAATGTCTCAATTTTCTAAGGCCAAAAGTTTGTGTTTCTCTT AAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG01884.hp1 HG02809.hp1	a0001 a0007 a0001 a0007	a0001c0007 a0007c0020 a0001c0007 a0007c0020	a0001c0007t0001 a0007c0020t0001 a0001c0007t0001 a0007c0020t0001	a0001c0007t0001g0138 a0007c0020t0001g0129 a0001c0007t0001g0138 a0007c0020t0001g0129	2	302	0.0066	-102	c.423 others(17): Show c.4230+342_4230+443del	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	16/19			chr1	TogoVar
CFAP54_chr12_96484577_96880555	96664689	GTATATAT others(95): Show GTATATATCTATATATATATATATATCTATATATATCTATATATATATAT CTATATATATATATATCTATATATATCTATATCTATATCTATATATATAT ATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00609.hp2 others(28): Show HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG01109.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG02056.hp1 HG02083.hp2 HG02523.hp2 HG03195.hp2 HG03209.hp1 HG03942.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18969.hp1 NA18973.hp1 NA18995.hp2 NA18998.hp1 NA19012.hp1 NA19054.hp1 NA19066.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp2 NA19091.hp2	a0002 a0012 a0026 others(4): Show a0002 a0012 a0026 a0028 a0030 a0054 a0059	a0002c0003 a0002c0007 a0002c0032 others(7): Show a0002c0003 a0002c0007 a0002c0032 a0002c0058 a0012c0021 a0026c0029 a0028c0095 a0030c0093 a0054c0040 a0059c0090	a0002c0003t0001 a0002c0007t0001 a0002c0032t0001 others(7): Show a0002c0003t0001 a0002c0007t0001 a0002c0032t0001 a0002c0058t0001 a0012c0021t0001 a0026c0029t0001 a0028c0095t0001 a0030c0093t0001 a0054c0040t0001 a0059c0090t0001	a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0126 others(28): Show a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0126 a0002c0003t0001g0129 a0002c0003t0001g0139 a0002c0003t0001g0151 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0007t0001g0131 a0002c0007t0001g0132 a0002c0007t0001g0133 a0002c0007t0001g0134 a0002c0007t0001g0135 a0002c0007t0001g0136 a0002c0007t0001g0155 a0002c0007t0001g0157 a0002c0032t0001g0216 a0002c0058t0001g0070 a0012c0021t0001g0203 a0012c0021t0001g0204 a0026c0029t0001g0001 a0026c0029t0001g0176 a0028c0095t0001g0148 a0030c0093t0001g0149 a0054c0040t0001g0108 a0059c0090t0001g0130	31	185	0.1676	-102	c.556 others(17): Show c.5563+765_5563+866del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFD_chr19_854664_868641	866515	ACCAGTGC others(95): Show ACCAGTGCTCCCATCTCCTCCCCGTCCACCCGCCGCAGGCCTGCACCCCT CGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCC TCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	284	0.0035	-102	c.32 others(11): Show c.3278_*3379del	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2875		chr19	TogoVar
CFD_chr19_854664_868641	866551	AGGCCTGC others(95): Show AGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCG CGGGCCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCC GCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	266	0.0038	-102	c.33 others(11): Show c.3314_*3415del	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2911		chr19	TogoVar
CFD_chr19_854664_868641	866580	CTCCTCCC others(95): Show CTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCC ATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	147	0.0068	-102	c.33 others(11): Show c.3343_*3444del	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2940		chr19	TogoVar
CFD_chr19_854664_868641	866631	GTCCTCCC others(95): Show GTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCC ATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	271	0.0037	-102	c.33 others(11): Show c.3394_*3495del	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2991		chr19	TogoVar
CFD_chr19_854664_868641	866668	GCCAGCGC others(95): Show GCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCT CGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCC TCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 NA18747.hp1 HG01361.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0018 a0001c0001t0003g0004 a0001c0001t0001g0018 a0001c0001t0003g0004	2	279	0.0072	-102	c.34 others(11): Show c.3431_*3532del	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3028		chr19	TogoVar
CFD_chr19_854664_868641	866752	CGCGGGCC others(95): Show CGCGGGCCTGCACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCG CCGCGGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCC ACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01257.hp1 HG01258.hp1 others(6): Show HG01256.hp1 HG01257.hp1 HG01258.hp1 HG02897.hp1 HG03486.hp2 HG03540.hp1 NA18995.hp2 NA18997.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0003 a0001c0001t0005g0001 a0001c0001t0006g0006 a0001c0001t0008g0010 a0001c0001t0015g0036 a0003c0004t0001g0030	9	278	0.0324	-102	c.35 others(11): Show c.3515_*3616del	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3112		chr19	TogoVar
CFD_chr19_854664_868641	866848	GCCCACTG others(95): Show GCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGT CCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18522.hp1 NA19043.hp1 HG02257.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	198	0.0152	-102	c.36 others(11): Show c.3611_*3712del	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3208		chr19	TogoVar
CLPX_chr15_65143219_65190342	65145940	ATATATAA others(95): Show ATATATAAATATATATATAAAATATATATATAAATATATATATAAATATA TATATAAATATATATATAAATATATATATAAATATATATATAAATATATA TAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	182	0.0055	-102	c.47 others(11): Show c.4781_*4882del	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2278		chr15	TogoVar
CLUL1_chr18_591988_655182	596767	CTCTGCAG others(95): Show CTCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGTCCCGCCCACCCGG CGTCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGCCCCGCCCACCCG GCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG03225.hp1 NA18906.hp2 HG02896.hp2 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0011t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0011t0001g0071	3	412	0.0073	-102	c.-49 others(9): Show c.-497_-396del	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		220		chr18	TogoVar
CLUL1_chr18_591988_655182	596803	TCCCGCCC others(95): Show TCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAG GCCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCACCCGGCGTCACCTGCA GGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01891.hp1 HG02451.hp2 others(3): Show HG00741.hp2 HG01891.hp1 HG02451.hp2 HG02723.hp2 HG02895.hp1 HG03130.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0003c0005t0001 a0001c0001t0001 a0001c0001t0002 a0003c0005t0001	a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0094 a0001c0001t0002g0132 a0003c0005t0001g0048	6	349	0.0172	-102	c.-46 others(9): Show c.-461_-360del	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		184		chr18	TogoVar
CLUL1_chr18_591988_655182	596890	GGCGTCAC others(95): Show GGCGTCACCTGCAGGCCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCACC CGGCGTCACCTGCAGGCCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCAC CCT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01106.hp1 others(21): Show HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01433.hp1 HG01891.hp2 HG02109.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0003 a0002c0006t0004	a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(21): Show a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0104 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0139 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0005g0121 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0264 a0001c0002t0003g0105 a0002c0006t0004g0127	24	412	0.0583	-102	c.-37 others(9): Show c.-374_-273del	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	1/10	21009		chr18	TogoVar
CNGA1_chr4_47930977_48021681	47976241	GTATATAT others(95): Show GTATATATATATACACATACATATATATATACATATATATGTATATATAT ATATACACATACATATATATATACATATATATGTATATATATATATACAC ATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(81): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01515.hp1 HG01884.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18948.hp2 NA18949.hp1 NA18957.hp2 NA18962.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19078.hp2 NA19079.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(68): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0003g0026 a0001c0001t0003g0049 a0001c0001t0003g0067 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0198 a0001c0001t0005g0328 a0002c0002t0001g0252	84	364	0.2308	-102	c.-15 others(17): Show c.-15+5050_-15+5151del	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
COG1_chr17_73188055_73213507	73192828	CCCCGCGC others(95): Show CCCCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCC GCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTC GCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(228): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0005c0008 a0007c0013	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001 a0005c0008t0001 a0007c0013t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0006 others(73): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0013 a0001c0003t0001g0033 a0001c0003t0001g0037 a0001c0003t0001g0041 a0001c0003t0001g0123 a0001c0003t0001g0151 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0024 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0115 a0001c0004t0001g0116 a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0004t0001g0122 a0001c0004t0001g0132 a0001c0009t0001g0001 a0005c0008t0001g0001 a0005c0008t0001g0148 a0007c0013t0001g0096	231	426	0.5423	-102	c.-24 others(9): Show c.-241_-140del	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		226		chr17	TogoVar
COL18A1_chr21_45400165_45518720	45437550	ACACACAC others(95): Show ACACACACACACAGACACAGGCACTCTCCTGTACACACACACACTCACAC ACTCAGACACACAGGCACTCTCCTGCACACACACTCACACAGGCACTCTC CTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02895.hp1 others(1): Show HG02559.hp1 HG02630.hp1 HG02895.hp1 HG03098.hp1	a0003 a0011 a0012 a0003 a0011 a0012	a0003c0097 a0011c0099 a0012c0037 a0003c0097 a0011c0099 a0012c0037	a0003c0097t0001 a0011c0099t0004 a0012c0037t0009 a0003c0097t0001 a0011c0099t0004 a0012c0037t0009	a0003c0097t0001g0037 a0011c0099t0004g0199 a0012c0037t0009g0200 others(1): Show a0003c0097t0001g0037 a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201	4	286	0.0140	-102	c.107 others(19): Show c.107-30679_107-30578del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178301938	AAGCACAG others(95): Show AAGCACAGCTTCAATGCTGCACCTCTGTGTGCGCCGGAGCACAGCCTCAA TCCACCTCTGTGTGTGCCGGAGCACAGCTTCAATCCACCTCTGTGTGTGC TGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01243.hp2 others(29): Show HG00738.hp2 HG01167.hp1 HG01243.hp2 HG01884.hp2 HG01934.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0013 a0003c0004 a0004c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 a0001c0005t0005 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0008 a0002c0013t0003 a0003c0004t0002 a0003c0004t0003 a0004c0006t0003	a0001c0001t0003g0070 a0001c0001t0003g0116 a0001c0001t0003g0159 others(29): Show a0001c0001t0003g0070 a0001c0001t0003g0116 a0001c0001t0003g0159 a0001c0001t0003g0169 a0001c0001t0003g0182 a0001c0001t0004g0088 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0007g0008 a0001c0001t0007g0118 a0001c0005t0001g0007 a0001c0005t0005g0074 a0002c0002t0001g0141 a0002c0003t0002g0121 a0002c0003t0002g0140 a0002c0003t0002g0211 a0002c0003t0003g0157 a0002c0003t0005g0066 a0002c0003t0005g0115 a0002c0003t0005g0131 a0002c0003t0005g0151 a0002c0003t0008g0231 a0002c0013t0003g0124 a0003c0004t0002g0005 a0003c0004t0002g0061 a0003c0004t0003g0125 a0003c0004t0003g0220 a0004c0006t0003g0062 a0004c0006t0003g0130 a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0003g0172	32	232	0.1379	-102	c.406 others(17): Show c.406+4835_406+4936del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489758	CTTTCTTT others(95): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0009 a0001c0014t0009	a0001c0014t0009g0116 a0001c0014t0009g0116	1	164	0.0061	-102	c.385 others(19): Show c.385+41973_385+42074del	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A2_chr13_110302284_110518209	110313511	CGTCCACC others(95): Show CGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCGGCAGGC TCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCAGTGCCC CGT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02015.hp1 HG02258.hp2 others(3): Show HG01346.hp1 HG02015.hp1 HG02258.hp2 HG03486.hp1 HG03579.hp2 NA18992.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0119 a0002c0064 others(3): Show a0001c0003 a0001c0119 a0002c0064 a0002c0111 a0003c0068 a0004c0058	a0001c0003t0003 a0001c0119t0032 a0002c0064t0009 others(3): Show a0001c0003t0003 a0001c0119t0032 a0002c0064t0009 a0002c0111t0015 a0003c0068t0024 a0004c0058t0001	a0001c0003t0003g0089 a0001c0119t0032g0005 a0002c0064t0009g0170 others(3): Show a0001c0003t0003g0089 a0001c0119t0032g0005 a0002c0064t0009g0170 a0002c0111t0015g0368 a0003c0068t0024g0247 a0004c0058t0001g0183	6	338	0.0178	-102	c.99+ others(15): Show c.99+5481_99+5582del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110313647	CGTCCACC others(95): Show CGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGC TCCCACCCCGGTGCCCCGCGTCCACCCAGCAGGCTCCCACCCCAGTGCCC CGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 NA18941.hp2 others(3): Show HG00621.hp1 HG00738.hp1 NA18941.hp2 NA18971.hp2 NA19007.hp1 NA19079.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0001c0008 a0001c0014 others(1): Show a0001c0005 a0001c0008 a0001c0014 a0004c0012	a0001c0005t0001 a0001c0005t0003 a0001c0005t0009 others(3): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0009 a0001c0008t0002 a0001c0014t0026 a0004c0012t0004	a0001c0005t0001g0182 a0001c0005t0003g0052 a0001c0005t0009g0013 others(3): Show a0001c0005t0001g0182 a0001c0005t0003g0052 a0001c0005t0009g0013 a0001c0008t0002g0344 a0001c0014t0026g0156 a0004c0012t0004g0300	6	369	0.0163	-102	c.99+ others(15): Show c.99+5549_99+5650del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110313749	TGTCCACC others(95): Show TGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCGGCAGGC TCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCC CGC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0017 a0017	a0017c0080 a0017c0080	a0017c0080t0003 a0017c0080t0003	a0017c0080t0003g0056 a0017c0080t0003g0056	1	261	0.0038	-102	c.99+ others(15): Show c.99+5645_99+5746del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587785	CCGTGTCA others(95): Show CCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCAC CCG	C C	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	268	0.0037	-102	c.927 others(15): Show c.927+711_928-761del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598583	GGGGGGGT others(95): Show GGGGGGGTCTCAGGCTGGACAGAGGGTGAGTATCCGGGCCTTGTGCAGAT CGGAGGTCTCAGGGGCTGGGCAGAGGGTGCGTGTCAGGGCCCTGTGCAGG TGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02027.hp1 NA18959.hp1 others(1): Show HG00639.hp1 HG02027.hp1 NA18959.hp1 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0003 a0002c0003t0003 a0001c0002t0001 a0001c0002t0003 a0002c0003t0003	a0001c0002t0001g0276 a0001c0002t0003g0176 a0002c0003t0003g0167 others(1): Show a0001c0002t0001g0276 a0001c0002t0003g0176 a0002c0003t0003g0167 a0002c0003t0003g0221	4	346	0.0116	-102	c.19 others(11): Show c.1963_*2064del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1338		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598686	GGGGGGGT others(95): Show GGGGGGGTCTCAGGCTGGACAGAGGGTGAGTATCCGGGCCTTGTGCAGAT CGGAGGTCTCAGGGGCTGGGCAGAGGGTGCGTGTCAGGGCCCTGTGCAGG TGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	343	0.0029	-102	c.20 others(11): Show c.2066_*2167del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1441		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598789	GGGGGGGT others(95): Show GGGGGGGTCTCAGGCTGGACAGAGGGTGAGTATCCGGGCCTTGTGCAGAT CGGAGGTCTCAGGGGCTGGGCAGAGGGTGCGTGTCAGGGCCCTGTGCAGG TGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	346	0.0029	-102	c.21 others(11): Show c.2169_*2270del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1544		chr16	TogoVar
CPSF2_chr14_92116969_92177145	92173319	ACATATAT others(95): Show ACATATATATATACGTATATATATATGTATATATATATACGTATATATAT ATGTATATATATACGTATATATATATATACACATATGTATATATATATAT GTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG03491.hp1 NA18956.hp1 others(1): Show HG02040.hp2 HG03491.hp1 NA18956.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0021 a0001c0001t0037 others(1): Show a0001c0001t0020 a0001c0001t0021 a0001c0001t0037 a0001c0001t0065	a0001c0001t0020g0011 a0001c0001t0021g0122 a0001c0001t0037g0124 others(1): Show a0001c0001t0020g0011 a0001c0001t0021g0122 a0001c0001t0037g0124 a0001c0001t0065g0118	4	373	0.0107	-102	c.11 others(13): Show c.11576_*11677del	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1175		chr14	TogoVar
CSMD1_chr8_2930361_4999914	4486128	TATATATA others(95): Show TATATATATACATACATATATATATATATACATACATATATATATATACA TACATATATATATATATATATACATACATATATATATATATATATATACA TAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG02647.hp1 HG02922.hp2	a0004 a0023 a0004 a0023	a0004c0058 a0023c0069 a0004c0058 a0023c0069	a0004c0058t0056 a0023c0069t0043 a0004c0058t0056 a0023c0069t0043	a0004c0058t0056g0117 a0023c0069t0043g0100 a0004c0058t0056g0117 a0023c0069t0043g0100	2	126	0.0159	-102	c.303 others(19): Show c.303-66165_303-66064del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CTNNBL1_chr20_37689030_37877118	37834706	CAGCCACC others(95): Show CAGCCACCTACTCAAGCACATGACCTTAAGTCCGTTAATCTCACCGAGCC ATGGGTTCCACATTTATAAAATGGAGATGTGGATAGTACCTTTTCCACAG CTT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19064.hp1 NA18964.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0221 a0001c0001t0001g0104 a0001c0001t0001g0221	2	264	0.0076	-102	c.121 others(19): Show c.1214-5393_1214-5292del	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CYTH1_chr17_78669048_78787273	78760485	GTATATAT others(95): Show GTATATATATATACATATATATGTATATATATGTATATATATATATACAT ACATATATATGTATATATATATGTATATATATATACACATACATATATAT GTA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18939.hp1 NA18942.hp2 others(6): Show HG02080.hp2 NA18939.hp1 NA18942.hp2 NA18954.hp2 NA18988.hp1 NA18989.hp1 NA18998.hp1 NA19054.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0001 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0026 a0001c0001t0005g0003 a0001c0001t0005g0018 others(6): Show a0001c0001t0001g0026 a0001c0001t0005g0003 a0001c0001t0005g0018 a0001c0001t0005g0027 a0001c0001t0005g0031 a0001c0001t0005g0034 a0001c0001t0005g0045 a0001c0001t0005g0047 a0001c0001t0011g0030	9	376	0.0239	-102	c.22+ others(17): Show c.22+21615_22+21716del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
D2HGDH_chr2_241729630_241773811	241741527	GTGGGGCT others(95): Show GTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCT CCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCAT GTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(233): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0015 a0016 a0017 a0019 a0021	a0001c0001 a0001c0012 a0001c0029 others(24): Show a0001c0001 a0001c0012 a0001c0029 a0002c0002 a0002c0009 a0002c0032 a0003c0003 a0003c0008 a0004c0005 a0004c0016 a0004c0021 a0004c0022 a0004c0023 a0005c0004 a0005c0018 a0007c0007 a0007c0017 a0008c0011 a0008c0024 a0009c0014 a0010c0010 a0012c0031 a0015c0030 a0016c0020 a0017c0037 a0019c0019 a0021c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(87): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0042 a0001c0001t0052 a0001c0012t0008 a0001c0012t0030 a0001c0029t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0015 a0002c0002t0025 a0002c0002t0026 a0002c0002t0033 a0002c0002t0034 a0002c0002t0039 a0002c0002t0049 a0002c0009t0008 a0002c0032t0015 a0003c0003t0002 a0003c0003t0005 a0003c0003t0007 a0003c0003t0010 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0021 a0003c0003t0024 a0003c0003t0043 a0003c0003t0044 a0003c0008t0001 a0003c0008t0004 a0003c0008t0005 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0005t0009 a0004c0005t0010 a0004c0005t0012 a0004c0005t0013 a0004c0005t0014 a0004c0005t0024 a0004c0005t0031 a0004c0005t0047 a0004c0005t0050 a0004c0016t0012 a0004c0021t0008 a0004c0022t0048 a0004c0023t0002 a0005c0004t0001 a0005c0004t0005 a0005c0004t0023 a0005c0018t0008 a0007c0007t0001 a0007c0007t0004 a0007c0007t0005 a0007c0007t0007 a0007c0007t0026 a0007c0017t0008 a0008c0011t0002 a0008c0011t0007 a0008c0011t0021 a0008c0024t0001 a0009c0014t0003 a0010c0010t0002 a0010c0010t0005 a0012c0031t0004 a0015c0030t0003 a0016c0020t0005 a0017c0037t0001 a0019c0019t0002 a0021c0033t0008	a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0167 others(219): Show a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0167 a0001c0001t0002g0031 a0001c0001t0002g0062 a0001c0001t0002g0081 a0001c0001t0005g0007 a0001c0001t0007g0157 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0008g0068 a0001c0001t0008g0166 a0001c0001t0012g0293 a0001c0001t0016g0179 a0001c0001t0016g0182 a0001c0001t0020g0085 a0001c0001t0020g0086 a0001c0001t0022g0069 a0001c0001t0022g0073 a0001c0001t0025g0029 a0001c0001t0029g0015 a0001c0001t0031g0162 a0001c0001t0042g0183 a0001c0001t0052g0160 a0001c0012t0008g0032 a0001c0012t0030g0163 a0001c0012t0030g0312 a0001c0029t0002g0156 a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0048 a0002c0002t0001g0052 a0002c0002t0001g0066 a0002c0002t0001g0080 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0178 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0002g0009 a0002c0002t0002g0071 a0002c0002t0002g0079 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0106 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0153 a0002c0002t0003g0082 a0002c0002t0003g0260 a0002c0002t0003g0263 a0002c0002t0004g0017 a0002c0002t0004g0039 a0002c0002t0004g0043 a0002c0002t0004g0045 a0002c0002t0004g0046 a0002c0002t0004g0049 a0002c0002t0004g0050 a0002c0002t0004g0051 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0055 a0002c0002t0004g0056 a0002c0002t0004g0058 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0131 a0002c0002t0004g0158 a0002c0002t0004g0177 a0002c0002t0004g0191 a0002c0002t0004g0192 a0002c0002t0004g0195 a0002c0002t0004g0200 a0002c0002t0004g0202 a0002c0002t0004g0206 a0002c0002t0004g0207 a0002c0002t0005g0138 a0002c0002t0007g0002 a0002c0002t0007g0005 a0002c0002t0007g0076 a0002c0002t0007g0098 a0002c0002t0007g0130 a0002c0002t0007g0136 a0002c0002t0007g0137 a0002c0002t0007g0168 a0002c0002t0008g0078 a0002c0002t0008g0380 a0002c0002t0009g0261 a0002c0002t0009g0291 a0002c0002t0012g0225 a0002c0002t0013g0150 a0002c0002t0015g0134 a0002c0002t0015g0146 a0002c0002t0025g0169 a0002c0002t0026g0044 a0002c0002t0033g0180 a0002c0002t0033g0181 a0002c0002t0034g0262 a0002c0002t0039g0277 a0002c0002t0049g0107 a0002c0009t0008g0095 a0002c0009t0008g0100 a0002c0009t0008g0132 a0002c0009t0008g0133 a0002c0009t0008g0135 a0002c0009t0008g0151 a0002c0032t0015g0077 a0003c0003t0002g0334 a0003c0003t0002g0335 a0003c0003t0002g0342 a0003c0003t0005g0023 a0003c0003t0005g0332 a0003c0003t0005g0333 a0003c0003t0005g0349 a0003c0003t0005g0353 a0003c0003t0005g0354 a0003c0003t0005g0360 a0003c0003t0005g0362 a0003c0003t0005g0363 a0003c0003t0007g0351 a0003c0003t0010g0316 a0003c0003t0010g0326 a0003c0003t0010g0327 a0003c0003t0010g0328 a0003c0003t0010g0329 a0003c0003t0010g0330 a0003c0003t0010g0331 a0003c0003t0011g0338 a0003c0003t0011g0339 a0003c0003t0011g0340 a0003c0003t0011g0341 a0003c0003t0011g0364 a0003c0003t0011g0365 a0003c0003t0011g0374 a0003c0003t0013g0350 a0003c0003t0013g0366 a0003c0003t0013g0367 a0003c0003t0013g0368 a0003c0003t0014g0318 a0003c0003t0014g0319 a0003c0003t0014g0320 a0003c0003t0021g0356 a0003c0003t0024g0317 a0003c0003t0043g0357 a0003c0003t0044g0314 a0003c0008t0001g0028 a0003c0008t0001g0361 a0003c0008t0004g0372 a0003c0008t0005g0336 a0003c0008t0005g0371 a0004c0005t0002g0102 a0004c0005t0002g0105 a0004c0005t0003g0227 a0004c0005t0005g0042 a0004c0005t0005g0072 a0004c0005t0005g0152 a0004c0005t0005g0208 a0004c0005t0005g0211 a0004c0005t0007g0063 a0004c0005t0007g0064 a0004c0005t0007g0074 a0004c0005t0009g0264 a0004c0005t0010g0041 a0004c0005t0012g0217 a0004c0005t0012g0218 a0004c0005t0013g0147 a0004c0005t0014g0104 a0004c0005t0024g0037 a0004c0005t0031g0161 a0004c0005t0047g0057 a0004c0005t0050g0075 a0004c0016t0012g0275 a0004c0016t0012g0279 a0004c0021t0008g0030 a0004c0022t0048g0210 a0004c0023t0002g0172 a0005c0004t0001g0313 a0005c0004t0005g0025 a0005c0004t0005g0324 a0005c0004t0023g0378 a0005c0004t0023g0379 a0005c0018t0008g0325 a0007c0007t0001g0358 a0007c0007t0004g0038 a0007c0007t0005g0348 a0007c0007t0007g0337 a0007c0007t0007g0346 a0007c0007t0007g0347 a0007c0007t0026g0047 a0007c0017t0008g0373 a0008c0011t0002g0103 a0008c0011t0007g0033 a0008c0011t0021g0036 a0008c0024t0001g0035 a0009c0014t0003g0273 a0009c0014t0003g0274 a0009c0014t0003g0292 a0010c0010t0002g0359 a0010c0010t0005g0026 a0012c0031t0004g0184 a0015c0030t0003g0281 a0016c0020t0005g0065 a0017c0037t0001g0299 a0019c0019t0002g0097 a0021c0033t0008g0321	236	410	0.5756	-102	c.350 others(15): Show c.350+450_350+551del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDA1_chr19_17304563_17328298	17315107	ATATATAC others(95): Show ATATATACACACACGTATATATACACACATATATATACACACACGTATAT ATACACACGTGTATATACACACACGTGTATACACACACGTGTATACACAC GTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0175 a0001c0001t0005g0175	1	384	0.0026	-102	c.136 others(15): Show c.136+734_137-710del	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDA1_chr19_17304563_17328298	17315128	TACACACA others(95): Show TACACACATATATATACACACACGTATATATACACACGTGTATATACACA CACGTGTATACACACACGTGTATACACACGTGTATATACACACACGTGTA TAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	386	0.0026	-102	c.136 others(15): Show c.136+747_137-697del	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132135724	ACGGTGCC others(95): Show ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA19007.hp1 NA19065.hp1 others(1): Show HG00438.hp2 NA19007.hp1 NA19065.hp1 NA19083.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0014 a0002c0002 a0007c0014	a0002c0002t0004 a0002c0002t0018 a0007c0014t0004 a0002c0002t0004 a0002c0002t0018 a0007c0014t0004	a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0018g0028 others(1): Show a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0018g0028 a0007c0014t0004g0038	4	322	0.0124	-102	c.34 others(11): Show c.3446_*3547del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		869		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135814	CCCGAGTG others(95): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCA CCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0030	-102	c.33 others(11): Show c.3356_*3457del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		779		chr12	TogoVar
DGKG_chr3_186142201_186367234	186302464	ATATATAT others(95): Show ATATATATATATATATATATATATATATATATATATATATATACATATGT GTATATATATATATATATACATATGTATATATATATATATATATACACAT ATG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02280.hp1 HG02451.hp2 others(12): Show HG01256.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0020 others(2): Show a0001c0002 a0001c0003 a0001c0020 a0002c0001 a0002c0005	a0001c0002t0009 a0001c0002t0010 a0001c0003t0003 others(11): Show a0001c0002t0009 a0001c0002t0010 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0011 a0001c0003t0014 a0001c0003t0019 a0001c0003t0042 a0001c0020t0003 a0002c0001t0022 a0002c0001t0031 a0002c0005t0019	a0001c0002t0009g0207 a0001c0002t0010g0162 a0001c0003t0003g0163 others(12): Show a0001c0002t0009g0207 a0001c0002t0010g0162 a0001c0003t0003g0163 a0001c0003t0005g0058 a0001c0003t0005g0109 a0001c0003t0007g0090 a0001c0003t0008g0219 a0001c0003t0011g0222 a0001c0003t0014g0204 a0001c0003t0019g0086 a0001c0003t0042g0220 a0001c0020t0003g0221 a0002c0001t0022g0196 a0002c0001t0031g0110 a0002c0005t0019g0140	15	232	0.0647	-102	c.144 others(17): Show c.144+4335_145-4236del	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DLC1_chr8_13078361_13519851	13453400	ATGTGTAT others(95): Show ATGTGTATATATATATATATATATGTGTATATATATATGTATATATATAC ATATATATATGTATATATATACATATATATGTATATATATACATATATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0018 a0001c0004t0003g0018	1	199	0.0050	-102	c.102 others(21): Show c.1023+45547_1023+45648del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	785612	ACCCCTCT others(95): Show ACCCCTCTGAGACCGGCCTCCCTCCTCCCCTCAGGCCCCTCTGAGACCGG CCTCCCTCCTCCCCTCAGGCCCCTCTGAGACCGGCTTCCCTCCTCCCCTC AGG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	35	0.0286	-102	c.18+ others(17): Show c.18+47872_18+47973del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	795735	CGTCCAGT others(95): Show CGTCCAGTGAGAACAGGCGTCCAGTGAGAGCAGGCGTCCAGTGAGAGCAG GCGTCCGGTGAGAACAGGCGTCCGGTGAGAGCAGGCGTCCGGTGAGAGCA GCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-102	c.18+ others(17): Show c.18+57915_18+58016del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOC2B_chr17_137789_186650	140856	CTGGTGAG others(95): Show CTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGG GGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGG CCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	331	0.0030	-102	c.64 others(11): Show c.6483_*6584del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1932		chr17	TogoVar
DOC2B_chr17_137789_186650	140949	AGGGGGGC others(95): Show AGGGGGGCCTTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(96): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp2 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(20): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0022 a0001c0001t0027 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0002t0002 a0001c0002t0026 a0001c0002t0028 a0001c0002t0029 a0001c0003t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0010 others(86): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0005g0001 a0001c0001t0005g0054 a0001c0001t0005g0099 a0001c0001t0005g0107 a0001c0001t0005g0210 a0001c0001t0005g0213 a0001c0001t0008g0047 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0052 a0001c0001t0015g0194 a0001c0001t0015g0267 a0001c0001t0015g0268 a0001c0001t0022g0104 a0001c0001t0022g0183 a0001c0001t0027g0051 a0001c0001t0040g0126 a0001c0001t0044g0035 a0001c0001t0045g0114 a0001c0001t0050g0212 a0001c0001t0052g0115 a0001c0001t0053g0250 a0001c0001t0055g0141 a0001c0001t0056g0142 a0001c0001t0058g0030 a0001c0001t0059g0122 a0001c0001t0060g0123 a0001c0001t0062g0135 a0001c0002t0002g0235 a0001c0002t0002g0246 a0001c0002t0026g0040 a0001c0002t0028g0265 a0001c0002t0029g0037 a0001c0003t0002g0295 a0001c0003t0002g0296 a0001c0003t0002g0297 a0001c0003t0002g0298 a0001c0003t0002g0299 a0001c0003t0002g0300	99	115	0.8609	-102	c.63 others(11): Show c.6390_*6491del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1839		chr17	TogoVar
DPP9_chr19_4670227_4728842	4672228	TATATTCA others(95): Show TATATTCATATATATGAATATATATTCATATATATGAATATATATATTAA TATATTCATATATATATACTTATATTCATATATTCATATATATACTTATA TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0234 a0001c0001t0017g0234	1	310	0.0032	-102	c.42 others(11): Show c.4234_*4335del	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2998		chr19	TogoVar
DRAM1_chr12_101872580_101928612	101920282	TAAAAAGA others(95): Show TAAAAAGAGCACTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(159): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19001.hp1 NA19003.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045	a0001c0001t0002g0007 a0001c0001t0002g0079 a0001c0001t0002g0080 others(158): Show a0001c0001t0002g0007 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0250 a0001c0001t0004g0253 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0386 a0001c0001t0005g0017 a0001c0001t0005g0178 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0252 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0261 a0001c0001t0006g0078 a0001c0001t0006g0128 a0001c0001t0006g0382 a0001c0001t0006g0383 a0001c0001t0006g0384 a0001c0001t0006g0385 a0001c0001t0006g0388 a0001c0001t0007g0005 a0001c0001t0007g0369 a0001c0001t0007g0370 a0001c0001t0007g0376 a0001c0001t0007g0381 a0001c0001t0008g0359 a0001c0001t0008g0361 a0001c0001t0008g0362 a0001c0001t0008g0363 a0001c0001t0008g0364 a0001c0001t0008g0365 a0001c0001t0009g0041 a0001c0001t0009g0113 a0001c0001t0009g0140 a0001c0001t0009g0147 a0001c0001t0009g0149 a0001c0001t0011g0368 a0001c0001t0011g0374 a0001c0001t0011g0375 a0001c0001t0011g0377 a0001c0001t0012g0248 a0001c0001t0012g0387 a0001c0001t0012g0389 a0001c0001t0012g0391 a0001c0001t0015g0215 a0001c0001t0015g0216 a0001c0001t0015g0217 a0001c0001t0016g0006 a0001c0001t0016g0008 a0001c0001t0017g0251 a0001c0001t0017g0390 a0001c0001t0018g0013 a0001c0001t0018g0021 a0001c0001t0019g0011 a0001c0001t0019g0015 a0001c0001t0022g0106 a0001c0001t0023g0220 a0001c0001t0024g0093 a0001c0001t0025g0009 a0001c0001t0029g0367 a0001c0001t0030g0168 a0001c0001t0032g0170 a0001c0001t0033g0010 a0001c0001t0034g0051 a0001c0001t0036g0014 a0001c0001t0037g0016 a0001c0001t0038g0012 a0001c0001t0039g0360 a0001c0001t0040g0358 a0001c0001t0043g0366 a0001c0001t0044g0328 a0001c0001t0045g0321	162	394	0.4112	-102	c.672 others(15): Show c.672+102_672+203del	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELP1_chr9_108862517_108939124	108900756	ACACACAC others(95): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GCCACACACACATACACGCCACACACACATACACGCCACACACACATACA CGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(67): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01256.hp2 HG01884.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0007 a0012 a0016 a0031 a0033	a0001c0001 a0001c0002 a0001c0017 others(9): Show a0001c0001 a0001c0002 a0001c0017 a0003c0004 a0003c0005 a0006c0006 a0007c0011 a0007c0022 a0012c0016 a0016c0039 a0031c0021 a0033c0023	a0001c0001t0003 a0001c0001t0011 a0001c0002t0004 others(10): Show a0001c0001t0003 a0001c0001t0011 a0001c0002t0004 a0001c0017t0001 a0003c0004t0001 a0003c0005t0001 a0006c0006t0008 a0007c0011t0001 a0007c0022t0001 a0012c0016t0003 a0016c0039t0003 a0031c0021t0001 a0033c0023t0001	a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0012 others(57): Show a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0011g0063 a0001c0001t0011g0064 a0001c0001t0011g0072 a0001c0002t0004g0244 a0001c0017t0001g0166 a0003c0004t0001g0016 a0003c0004t0001g0017 a0003c0004t0001g0139 a0003c0004t0001g0140 a0003c0004t0001g0141 a0003c0004t0001g0143 a0003c0004t0001g0144 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0147 a0003c0004t0001g0148 a0003c0004t0001g0149 a0003c0004t0001g0150 a0003c0004t0001g0151 a0003c0004t0001g0152 a0003c0004t0001g0155 a0003c0004t0001g0157 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0164 a0003c0004t0001g0239 a0003c0004t0001g0241 a0003c0005t0001g0186 a0003c0005t0001g0208 a0003c0005t0001g0209 a0006c0006t0008g0363 a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0154 a0007c0011t0001g0158 a0007c0011t0001g0163 a0007c0011t0001g0165 a0007c0011t0001g0240 a0007c0022t0001g0153 a0012c0016t0003g0054 a0012c0016t0003g0055 a0016c0039t0003g0167 a0031c0021t0001g0104 a0033c0023t0001g0242	70	188	0.3723	-102	c.201 others(17): Show c.2015-483_2015-382del	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EML5_chr14_88607431_88797953	88608034	TTGCAAGT others(95): Show TTGCAAGTACCATCCCCCATCTCACCCTGCAAGTACCATCCCCCATCTCA CCCTGCAAGTATCATCTCACCCTGCAAGTGAGTACCATCCCCCCATCTCA TCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0282 a0002c0002t0001g0282	1	330	0.0030	-102	c.76 others(11): Show c.7682_*7783del	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		4396		chr14	TogoVar
ENOSF1_chr18_665318_717630	666897	TGATGGAG others(95): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGAT GGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18942.hp2 HG00597.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0318 a0001c0001t0001g0005 a0001c0001t0001g0318	2	387	0.0052	-102	c.73 others(11): Show c.7306_*7407del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3420		chr18	TogoVar
ENOSF1_chr18_665318_717630	666933	TGATGGAG others(95): Show TGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAG ATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGAT GGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00642.hp1 others(9): Show HG00099.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01168.hp1 HG01516.hp2 HG02559.hp2 HG02572.hp1 HG02970.hp2 HG03710.hp1 HG06807.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0059 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0223 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0001g0281 a0001c0001t0001g0308 a0001c0001t0001g0309	12	336	0.0357	-102	c.72 others(11): Show c.7270_*7371del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3384		chr18	TogoVar
ENOSF1_chr18_665318_717630	667469	TGATGGTG others(95): Show TGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTG ATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0019 a0004c0008t0004g0019	1	375	0.0027	-102	c.67 others(11): Show c.6734_*6835del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2848		chr18	TogoVar

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