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
S1PR4_chr19_3173769_3185332	3178090	CTCGGGCT others(110): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-117	c.-70 others(9): Show c.-702_-586del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		678		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178130	TCGGGCTC others(110): Show TCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCT GGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTT TCCCCTTCTGCAACGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 NA19074.hp2 HG02622.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	2	418	0.0048	-117	c.-66 others(9): Show c.-662_-546del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		638		chr19	TogoVar
SDHA_chr5_213320_262082	246560	CAGAGAAG others(110): Show CAGAGAAGGCTCTAGATTTGCTAATTTTTCCAACTCCACATTCACCTACT GGTGTTATTGTTCAAGAGCAAGATTTTGTAGAATGGCTTTTTCTTCCACA TACTAATTCATGGACTCT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	266	0.0038	-117	c.155 others(19): Show c.1552-4388_1552-4272del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC14L1_chr17_77135969_77222101	77216186	TTAGTAGG others(110): Show TTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAG GGTTCGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGGTTAGTAGGT AGGGTTCGTAGGTAGGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0367 a0001c0002t0051g0367	1	430	0.0023	-117	c.22 others(11): Show c.2204_*2320del	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2204	INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINB7_chr18_63770418_63810370	63770480	TCTTGACC others(110): Show TCTTGACCCCAACTGGAAGCTATTGTCATTATTATTATTATTAAATTCTT GTAATTTCAGTTTCTATTTAACTTTTACTCAGGAATTAATGACAGGATTT TTACTGTCCATGTGAAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0071 a0002c0002t0004g0071	1	432	0.0023	-117	c.-52 others(11): Show c.-5254_-5138del	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding		4937		chr18	TogoVar
SIGIRR_chr11_400716_419999	402349	CGGCCCCG others(110): Show CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGA CCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACC CCGGCCCCGCTCACCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	242	0.0041	-117	c.34 others(11): Show c.3430_*3546del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3366		chr11	TogoVar
SLC25A11_chr17_4932130_4945046	4933822	AAGCCCGA others(110): Show AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCA CCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCC ACCTCAGAGCCCGCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	434	0.0046	-117	c.38 others(11): Show c.3802_*3918del	SLC25A11	ENSG00000108528.14	transcript	ENST00000225665.12	protein_coding		3307		chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79919968	ACAGGAAC others(110): Show ACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GGTCAGTGGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0337 a0001c0001t0027g0337	1	352	0.0028	-117	c.392 others(15): Show c.392-685_392-569del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC7A1_chr13_29504414_29600688	29558697	GAGTGAAT others(110): Show GAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGA GTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGA GAGAATGTGAGTGAGGCA	G G	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	330	0.0030	-117	c.-11 others(19): Show c.-114-4954_-114-4838del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558892	GGGGGAGT others(110): Show GGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGA ATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGG GGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0181 a0001c0002t0004g0181	1	330	0.0030	-117	c.-11 others(19): Show c.-114-5149_-114-5033del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SMG1_chr16_18799860_18931408	18827519	CTTTGGTA others(110): Show CTTTGGTATAAATATACCAAAATATATTTTTTTATATATCTTTGGTATAA ATATACCAAAATATATATTTTTAGATATATTTGGTATAAATATACCAAAA TATATATTTTTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0104 a0001c0008t0001g0104	1	300	0.0033	-117	c.974 others(17): Show c.9741+395_9741+511del	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SNAPC1_chr14_61757420_61801428	61793564	ATTTGTTT others(110): Show ATTTGTTTTTTTTACTTGTCTTTTCTCTTTTTCTTTTTCTGCCATTTCCC TTTTGTTTTTCACTGGTGGGGAATATTTTTTTTTCTTTTCTTTTTTTCTT TTTTTTTTTTTGAGACAG	A A	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	356	0.0028	-117	c.107 others(17): Show c.1072+663_1072+779del	SNAPC1	ENSG00000023608.5	transcript	ENST00000216294.5	protein_coding	9/9			chr14	TogoVar
SORCS2_chr4_7187538_7747827	7448890	CCCTCCCT others(110): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCC CTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCT TCCTCTTTTCCCTCTCTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0039 a0005c0022t0039	a0005c0022t0039g0153 a0005c0022t0039g0153	1	168	0.0060	-117	c.548 others(19): Show c.548+52555_548+52671del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7482166	TGTTCAGA others(110): Show TGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCTGTTCAGACCT GTATCCCCGCTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCGCT GCGGACACCCCTGACGCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG01952.hp1 others(20): Show HG01243.hp2 HG01891.hp1 HG01952.hp1 HG01981.hp2 HG02056.hp2 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG03139.hp1 HG03492.hp1 HG03710.hp2 HG04228.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA19066.hp2 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0019	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0001c0015 a0001c0041 a0001c0048 a0002c0004 a0004c0007 a0005c0021 a0019c0025	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(20): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0032 a0001c0002t0004 a0001c0002t0010 a0001c0002t0047 a0001c0002t0054 a0001c0002t0065 a0001c0003t0002 a0001c0003t0022 a0001c0005t0042 a0001c0014t0034 a0001c0015t0011 a0001c0041t0013 a0001c0048t0001 a0002c0004t0002 a0002c0004t0012 a0004c0007t0015 a0005c0021t0070 a0019c0025t0031	a0001c0001t0003g0053 a0001c0001t0005g0067 a0001c0001t0010g0129 others(20): Show a0001c0001t0003g0053 a0001c0001t0005g0067 a0001c0001t0010g0129 a0001c0001t0013g0125 a0001c0001t0018g0011 a0001c0001t0032g0141 a0001c0002t0004g0018 a0001c0002t0010g0045 a0001c0002t0047g0020 a0001c0002t0054g0050 a0001c0002t0065g0004 a0001c0003t0002g0073 a0001c0003t0022g0043 a0001c0005t0042g0157 a0001c0014t0034g0040 a0001c0015t0011g0002 a0001c0041t0013g0031 a0001c0048t0001g0146 a0002c0004t0002g0013 a0002c0004t0012g0035 a0004c0007t0015g0166 a0005c0021t0070g0103 a0019c0025t0031g0025	23	168	0.1369	-117	c.549 others(19): Show c.549-49329_549-49213del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPOCK2_chr10_72054034_72093551	72092484	CTGCAGGG others(110): Show CTGCAGGGTGGCCGCCTTCTTGCTGTGTCTTCGTTTCCTCTGTGCACACA CTAGTCTGGTGTCTCTGTGTGTCCAAATTCCCTCTTCTTATAAAGACACC AGACAGATTGCATTAGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	372	0.0027	-117	c.-42 others(11): Show c.-4273_-4157del	SPOCK2	ENSG00000107742.14	transcript	ENST00000373109.7	protein_coding		3934		chr10	TogoVar
SRBD1_chr2_45383680_45616267	45586983	AAATTATT others(110): Show AAATTATTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTT AAAAATTTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTT AAAATTTTTTAAATATTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	358	0.0028	-117	c.649 others(17): Show c.649-1326_649-1210del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SS18L1_chr20_62138769_62187514	62151900	ATCCCCAG others(110): Show ATCCCCAGAGCTGGCCTCCCCCGTTCTCCTCTTTTCCCTCTCCCCAGAGC TGGCCTCCCCCGTTCCCCTCTTTTCCCGGTCCCCAGGGCTGGCCTCCCCC GTTCCCCTCTTTTCCCGC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	316	0.0032	-117	c.70- others(15): Show c.70-6753_70-6637del	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
STK3_chr8_98449633_98830688	98825777	CGCCCCGC others(110): Show CGCCCCGCCCCGCCCCCGGCCGCCCCGCCCCGCCCCCGGCCGCCCCGCCC CGCCCCCGGCCGCCCCGCCCCGCCCCCGGCCGCCCCGCCCCGCCCCCGGC CGCGCCGGCCGCCAGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG03139.hp1 others(3): Show HG01069.hp1 HG01099.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0112 others(3): Show a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0130	6	170	0.0353	-117	c.-35 others(9): Show c.-354_-238del	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding		90		chr8	TogoVar
STON1_chr2_48525154_48603513	48564491	TCTTCTTC others(110): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTC CTCCTCCTCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG01168.hp2 others(7): Show HG00099.hp1 HG00597.hp1 HG01168.hp2 HG01255.hp1 HG02258.hp1 HG02970.hp1 NA18990.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0208 others(7): Show a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0208 a0002c0002t0001g0247 a0002c0002t0001g0358 a0002c0002t0002g0028 a0002c0002t0002g0035 a0002c0002t0002g0049 a0002c0002t0002g0374 a0002c0002t0004g0119	10	376	0.0266	-117	c.-47 others(19): Show c.-47-16090_-47-15974del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564497	TCTTCTTC others(110): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTC CTCCTCCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA18964.hp2 others(1): Show HG01167.hp1 HG01169.hp1 NA18964.hp2 NA19010.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0012 a0002c0002 a0006c0012	a0002c0002t0001 a0002c0002t0002 a0006c0012t0001 a0002c0002t0001 a0002c0002t0002 a0006c0012t0001	a0002c0002t0001g0192 a0002c0002t0002g0078 a0006c0012t0001g0071 others(1): Show a0002c0002t0001g0192 a0002c0002t0002g0078 a0006c0012t0001g0071 a0006c0012t0001g0166	4	376	0.0106	-117	c.-47 others(19): Show c.-47-16084_-47-15968del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
SULF1_chr8_69487847_69665912	69626119	CACAATCC others(110): Show CACAATCCCTGAGCTAGACATAAAGGTTCTCCAAGGCCCCACCAGAGCAG CTAGATACAGTGTCGATTGGTGCAGTCACAAACCTTGAACTAAACACAGG GTGCTGATTGGTGTGTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(171): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0011 a0005c0009 a0006c0010 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0003t0016 a0001c0006t0001 a0001c0006t0003 a0001c0006t0026 a0001c0008t0002 a0001c0008t0009 a0001c0011t0004 a0005c0009t0001 a0006c0010t0002 a0007c0014t0003	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(171): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0270 a0001c0001t0002g0002 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0276 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0022 a0001c0001t0003g0036 a0001c0001t0003g0055 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0086 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0118 a0001c0001t0003g0185 a0001c0001t0003g0271 a0001c0001t0004g0001 a0001c0001t0004g0127 a0001c0001t0004g0130 a0001c0001t0004g0136 a0001c0001t0004g0140 a0001c0001t0004g0142 a0001c0001t0004g0144 a0001c0001t0004g0148 a0001c0001t0004g0150 a0001c0001t0004g0158 a0001c0001t0004g0175 a0001c0001t0004g0192 a0001c0001t0004g0198 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0214 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0277 a0001c0001t0005g0159 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0200 a0001c0001t0005g0211 a0001c0001t0005g0241 a0001c0001t0005g0244 a0001c0001t0006g0160 a0001c0001t0006g0169 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0245 a0001c0001t0007g0093 a0001c0001t0007g0106 a0001c0001t0007g0133 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0024 a0001c0001t0008g0097 a0001c0001t0009g0281 a0001c0001t0009g0284 a0001c0001t0009g0288 a0001c0001t0009g0290 a0001c0001t0010g0109 a0001c0001t0010g0113 a0001c0001t0011g0146 a0001c0001t0011g0191 a0001c0001t0011g0264 a0001c0001t0013g0125 a0001c0001t0014g0041 a0001c0001t0014g0060 a0001c0001t0015g0223 a0001c0001t0016g0083 a0001c0001t0017g0087 a0001c0001t0017g0134 a0001c0001t0018g0273 a0001c0001t0019g0286 a0001c0001t0020g0040 a0001c0001t0020g0061 a0001c0001t0021g0162 a0001c0001t0023g0282 a0001c0001t0025g0280 a0001c0001t0027g0092 a0001c0001t0028g0120 a0001c0001t0029g0122 a0001c0001t0030g0103 a0001c0001t0031g0076 a0001c0001t0035g0275 a0001c0001t0036g0138 a0001c0001t0037g0219 a0001c0001t0038g0170 a0001c0003t0016g0082 a0001c0006t0001g0046 a0001c0006t0003g0202 a0001c0006t0026g0274 a0001c0008t0002g0268 a0001c0008t0009g0291 a0001c0011t0004g0195 a0005c0009t0001g0053 a0006c0010t0002g0259 a0007c0014t0003g0057	174	296	0.5878	-117	c.185 others(18): Show c.1851-1059_1851-943del	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
SULF1_chr8_69487847_69665912	69626151	AAGGCCCC others(110): Show AAGGCCCCACCAGAGCAGCTAGATACAGTGTCGATTGGTGCAGTCACAAA CCTTGAACTAAACACAGGGTGCTGATTGGTGTGTTTACAATCCCTGAGCT AGACATAAAGGTTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	296	0.0034	-117	c.185 others(18): Show c.1851-1038_1851-922del	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
TAF13_chr1_109059140_109081003	109071958	ATATATAT others(110): Show ATATATATATATATATATACACACATATATATATATATATATATATATAT ATATATACACACACATATATATATATATATATATATACACACACATATAT ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	414	0.0024	-117	c.106 others(17): Show c.106+2912_106+3028del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TAFA5_chr22_48484553_48756932	48497504	TGAGGCCT others(110): Show TGAGGCCTGGGGGCGGGGCTGAGGGTCAGAGGAGTAGCTGGAATCCTGGG GGCGGGGCTGAGGCCTGGGGGCGGGGCTGAGGGTCAGAGGAGTAGCTGGA ATCCTGGGGGCGGGGCTG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	258	0.0039	-117	c.112 others(17): Show c.112+8059_112+8175del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48736355	TCGCACTC others(110): Show TCGCACTCCTAGAGTCCATCCCCCCAGGAGGAGTGAGAATCGCACTCCTA GAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCATCCC CCCAGGAGGAATGAGAAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01884.hp2 HG01943.hp2 others(4): Show HG01433.hp2 HG01884.hp2 HG01943.hp2 HG02717.hp2 HG02965.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0046 a0001c0001t0002g0048 others(4): Show a0001c0001t0002g0007 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0099 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0002g0239	7	258	0.0271	-117	c.391 others(19): Show c.391-13472_391-13356del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCERG1L_chr10_131087391_131316721	131228428	GGAGTCTC others(110): Show GGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCC TCCAGACAGGCATTTCCTCAAGGTCTCTGGAGTCTCCACTCCAGAAAGGC ATTTCCTCAAGGCCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00735.hp2 others(40): Show HG00408.hp1 HG00558.hp2 HG00735.hp2 HG01243.hp1 HG01361.hp2 HG01433.hp2 HG01934.hp1 HG02074.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03654.hp1 HG03669.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp1 NA18948.hp1 NA18960.hp2 NA18970.hp2 NA18974.hp2 NA18990.hp2 NA18995.hp1 NA19004.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0014	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005 a0005c0007 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0016 a0001c0003t0003 a0002c0004t0002 a0002c0004t0007 a0003c0005t0002 a0005c0007t0003 a0014c0021t0004	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0043 others(40): Show a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0258 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0285 a0001c0001t0002g0290 a0001c0001t0002g0296 a0001c0001t0002g0316 a0001c0001t0003g0030 a0001c0001t0003g0057 a0001c0001t0003g0073 a0001c0001t0004g0081 a0001c0001t0005g0251 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0006g0071 a0001c0001t0007g0260 a0001c0001t0007g0286 a0001c0001t0010g0096 a0001c0001t0010g0108 a0001c0001t0013g0001 a0001c0002t0001g0122 a0001c0002t0001g0129 a0001c0002t0001g0148 a0001c0002t0001g0162 a0001c0002t0003g0121 a0001c0002t0004g0127 a0001c0002t0006g0163 a0001c0002t0006g0172 a0001c0002t0006g0177 a0001c0002t0016g0134 a0001c0003t0003g0005 a0002c0004t0002g0220 a0002c0004t0007g0219 a0003c0005t0002g0192 a0003c0005t0002g0194 a0005c0007t0003g0125 a0014c0021t0004g0183	43	324	0.1327	-117	c.856 others(19): Show c.856+31714_856+31830del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TESC_chr12_117033923_117104416	117075868	TATGTGTG others(110): Show TATGTGTGTATATATATATATATATATATATATATATATATATATATGTG TGTGTGTATATATATATATATATGTATATATACATATATATATATATATG TATGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG03486.hp2 others(1): Show HG01243.hp1 HG01891.hp2 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0001 a0001c0001t0001g0069	4	312	0.0128	-117	c.59- others(13): Show c.59-645_59-529del	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TMEM144_chr4_158205486_158260416	158257036	TATATAGT others(110): Show TATATAGTATTATATATTATATATAGTATTATATATATTATATATAGTAT TATATATTATATATAGTATTATATATATTATATATAGTATTATATATTAT ATATAGTATTATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00642.hp1 others(48): Show HG00140.hp1 HG00544.hp2 HG00642.hp1 HG01074.hp2 HG01109.hp1 HG01243.hp2 HG01257.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02523.hp2 HG02698.hp1 HG03017.hp2 HG03209.hp1 HG03490.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18971.hp2 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA19030.hp1 NA19062.hp1 NA19077.hp2 NA19090.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0039 a0001c0001t0058 a0001c0001t0062 a0001c0002t0053	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0026 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0007g0005 a0001c0001t0007g0028 a0001c0001t0007g0140 a0001c0001t0007g0172 a0001c0001t0007g0198 a0001c0001t0007g0215 a0001c0001t0015g0188 a0001c0001t0019g0118 a0001c0001t0021g0042 a0001c0001t0021g0043 a0001c0001t0021g0044 a0001c0001t0024g0020 a0001c0001t0026g0017 a0001c0001t0026g0098 a0001c0001t0039g0197 a0001c0001t0058g0218 a0001c0001t0062g0173 a0001c0002t0053g0127	51	274	0.1861	-117	c.35 others(11): Show c.3510_*3626del	TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding		1621		chr4	TogoVar
TMEM255A_chrX_120253650_120316461	120296970	TATTATAT others(110): Show TATTATATATATTATATATATATTATATATAATATATAATATTATATATA TTATATATATATAATATATAATATATAATATAATATATATAATATTATAT ATATTATATTATATTATA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	303	0.0033	-117	c.202 others(17): Show c.202-3036_202-2920del	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMEM255B_chr13_113754226_113821995	113804613	GGTTAGCT others(110): Show GGTTAGCTCCAGCCTGGGTATAAACGCACGCCGGGCCGGGGTTAGCTCCA GCCTGGGTATAAACGCACGCCGGGCCGGGGTTAGCTCCAGCCTGGGTATA AACGCACGCCGGGCCGGC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01169.hp1 others(38): Show HG00738.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp1 HG02129.hp2 HG02135.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp2 HG02738.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp2 HG03942.hp2 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19004.hp2 NA19011.hp2 NA19064.hp1 NA19066.hp1 NA19084.hp1 NA19088.hp1 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0001c0006 a0001c0022 others(1): Show a0001c0002 a0001c0006 a0001c0022 a0010c0021	a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 others(26): Show a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0018 a0001c0002t0019 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0063 a0001c0002t0066 a0001c0006t0016 a0001c0006t0163 a0001c0022t0042 a0010c0021t0060	a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0171 others(37): Show a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0171 a0001c0002t0007g0173 a0001c0002t0008g0099 a0001c0002t0008g0106 a0001c0002t0008g0108 a0001c0002t0008g0109 a0001c0002t0011g0062 a0001c0002t0011g0103 a0001c0002t0011g0105 a0001c0002t0018g0032 a0001c0002t0018g0141 a0001c0002t0019g0002 a0001c0002t0039g0110 a0001c0002t0040g0216 a0001c0002t0041g0185 a0001c0002t0043g0118 a0001c0002t0044g0104 a0001c0002t0045g0126 a0001c0002t0046g0116 a0001c0002t0047g0111 a0001c0002t0049g0117 a0001c0002t0050g0029 a0001c0002t0051g0119 a0001c0002t0052g0219 a0001c0002t0053g0002 a0001c0002t0055g0107 a0001c0002t0056g0063 a0001c0002t0057g0215 a0001c0002t0058g0113 a0001c0002t0059g0022 a0001c0002t0063g0101 a0001c0002t0066g0125 a0001c0006t0016g0010 a0001c0006t0016g0095 a0001c0006t0016g0096 a0001c0006t0163g0010 a0001c0022t0042g0235 a0010c0021t0060g0102	41	260	0.1577	-117	c.670 others(15): Show c.670-227_670-111del	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TRAPPC9_chr8_139722725_140462744	139747470	AGGGGTCA others(110): Show AGGGGTCAGAGCAGGTGGGAGGTGTGCAGGATCAGAGAAGATGCAGGGGG TACACACAGCAGGAGTCAGAGCAGGTAGGGGGGGCGTACAGGGGTCAGAG TGGGTGTGGGGGTGTCCC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0010 a0001c0009t0005g0010	1	98	0.0102	-117	c.305 others(21): Show c.3056-15385_3056-15269del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	139748196	GGGAGGTG others(110): Show GGGAGGTGTACAGGGATCAGAGAAGATGCAGGGGGTATACACAGCAGGTG TCAGAGCAGGTAGGGGGGGCATACAGGGGTCAGAGTGGGTGTGAGGGTGT CCTGGGGTCAGAGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA21309.hp1 HG02895.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0007c0017 a0001c0005 a0007c0017	a0001c0005t0030 a0007c0017t0001 a0001c0005t0030 a0007c0017t0001	a0001c0005t0030g0063 a0007c0017t0001g0062 a0001c0005t0030g0063 a0007c0017t0001g0062	2	98	0.0204	-117	c.305 others(21): Show c.3056-16111_3056-15995del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRIO_chr5_14138342_14515204	14455468	GGTGCTGA others(110): Show GGTGCTGATTGGTGCATTTACAAACCTTGAGCTAGACACAGAGTGGATTG GTGTATTTACAATCCTTTAGCTAGACATAAAAGTTCTCCAAGGCCCCACT AGATTAGCTAGACACAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19043.hp1 HG01884.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0007 a0001c0001t0012g0006 a0001c0001t0004g0007 a0001c0001t0012g0006	2	198	0.0101	-117	c.520 others(19): Show c.5204-5506_5204-5390del	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	34/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TSPAN32_chr11_2297013_2323204	2300108	GAGGGTGG others(110): Show GAGGGTGGGCAGGGGTGTGTGGGGTGGGCAGGGGTGTGTGGGGTGGGCAG GGGCATGTGGGGTGGGCAGGGGTGTGTGAGGTTGGGCAGGGGCGTGTGGG GTGGGCAGGGGTGTGTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	412	0.0024	-117	c.-20 others(11): Show c.-2041_-1925del	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding		1904		chr11	TogoVar
TYMS_chr18_652653_678578	667436	TGATGGTG others(110): Show TGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGTGATGGTGATG GTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGT GATGGTGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG03195.hp2 HG01884.hp1 HG02109.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0004g0360 a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0004g0360	3	482	0.0062	-117	c.455 others(17): Show c.455-1618_455-1502del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667454	TGATGATG others(110): Show TGATGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATG GTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGA GATGGTGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0266 a0001c0001t0003g0266	1	482	0.0021	-117	c.455 others(17): Show c.455-1613_455-1497del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UNC5A_chr5_176805559_176885898	176859526	GTCCTTGC others(110): Show GTCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATGG CTGCTAGAATGTCCTTGCTAGAGGGCATGGCTGCTACAATGTCCTTGCTA GAGGGCATGGCTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02809.hp2 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0235 a0001c0005t0002g0241 a0001c0005t0002g0235 a0001c0005t0002g0241	2	268	0.0075	-117	c.71- others(15): Show c.71-3097_71-2981del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14			chr5	TogoVar
UNC5D_chr8_35230475_35801540	35465395	GAATATTG others(110): Show GAATATTGTATGCTCAAAAGCCACATAAGTCTCAATCACAGTAAGCCAAG GCACAGTGAGCCCAGATTATGCCCCTGCACTCCAGCCTGGGCAACAGAGC AAGACCCAACCTCAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	64	0.0156	-117	c.104 others(19): Show c.104-83860_104-83744del	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
USP7_chr16_8887097_8968906	8953626	GTGCGGCG others(110): Show GTGCGGCGCCACCGGAAGCAGAGGGAAGACACGTGCCCCGTGCGGCGCCA CCGGAGGCAGAGGGAAGACACGTGCCCCGTGCGGCGCCACCGGAGGCAGA GGGAAGACACGTGCCCCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(199): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0002 a0003c0010 others(2): Show a0001c0001 a0001c0002 a0003c0010 a0004c0008 a0006c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0002t0001 a0003c0010t0036 a0004c0008t0001 a0006c0004t0011	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 others(195): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0269 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0005 a0001c0001t0002g0061 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0116 a0001c0001t0002g0139 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0003g0081 a0001c0001t0003g0121 a0001c0001t0003g0138 a0001c0001t0003g0202 a0001c0001t0003g0292 a0001c0001t0003g0297 a0001c0001t0004g0006 a0001c0001t0004g0054 a0001c0001t0004g0071 a0001c0001t0004g0092 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0162 a0001c0001t0004g0235 a0001c0001t0004g0240 a0001c0001t0004g0259 a0001c0001t0004g0285 a0001c0001t0004g0301 a0001c0001t0004g0304 a0001c0001t0005g0245 a0001c0001t0005g0261 a0001c0001t0005g0263 a0001c0001t0005g0271 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0009g0008 a0001c0001t0010g0234 a0001c0001t0010g0236 a0001c0001t0010g0280 a0001c0001t0011g0108 a0001c0001t0013g0257 a0001c0001t0013g0258 a0001c0001t0015g0317 a0001c0001t0015g0318 a0001c0001t0017g0007 a0001c0001t0019g0289 a0001c0001t0021g0140 a0001c0001t0026g0228 a0001c0001t0030g0151 a0001c0001t0032g0055 a0001c0001t0038g0331 a0001c0001t0039g0332 a0001c0002t0001g0091 a0001c0002t0001g0118 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0227 a0001c0002t0001g0239 a0003c0010t0036g0329 a0004c0008t0001g0102 a0006c0004t0011g0018	202	338	0.5976	-117	c.79+ others(15): Show c.79+9464_79+9580del	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8953665	GTGCGGCG others(110): Show GTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCGTGCGGCGCCA CCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACCGGAGGCAGA GGGAAGACACGTGCCCCC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	338	0.0030	-117	c.79+ others(15): Show c.79+9425_79+9541del	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8953704	GTGCGGCG others(110): Show GTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCA CCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACTGGAGGCAGA GGGAAGACACGTGCCCCC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02698.hp1 HG02818.hp2 others(15): Show HG02451.hp1 HG02698.hp1 HG02818.hp2 HG02896.hp1 HG03654.hp1 HG03704.hp2 HG03942.hp2 NA18522.hp2 NA18967.hp2 NA18975.hp1 NA18975.hp2 NA18990.hp1 NA19004.hp2 NA19012.hp2 NA19056.hp2 NA19063.hp2 NA19066.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0034	a0001c0001t0001g0203 a0001c0001t0001g0299 a0001c0001t0002g0069 others(15): Show a0001c0001t0001g0203 a0001c0001t0001g0299 a0001c0001t0002g0069 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0248 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0005g0120 a0001c0001t0034g0319	18	338	0.0533	-117	c.79+ others(15): Show c.79+9386_79+9502del	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8953716	CGGAGGCA others(110): Show CGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACCGGAGGCAGAG GGAAGACACGTGCCCCCTGCGGCGCCACTGGAGGCAGAGGGAAGACACGT GCCCCCTGCGGCGCCACT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG03041.hp2 others(1): Show HG02486.hp1 HG02622.hp2 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0115 others(1): Show a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0115 a0001c0001t0002g0183	4	338	0.0118	-117	c.79+ others(15): Show c.79+9374_79+9490del	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8953977	CTGCGGCG others(110): Show CTGCGGCGCCACTGGAGGCAGAGGGAAGACACGTGCCCCATGCGGCGCCA CTGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACTGGAGGCAGA GGGAAGACACGTGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01433.hp2 HG02683.hp2 others(1): Show HG01081.hp2 HG01433.hp2 HG02683.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085	4	338	0.0118	-117	c.79+ others(15): Show c.79+9113_79+9229del	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
WFIKKN2_chr17_50830586_50847353	50836475	CGGACCAG others(110): Show CGGACCAGGTGAGTGGGGTCCAGAAGCCACAGTGTGAGATGGACCAGGTG AGTGGGATCCAGAAGCTGGAGTGTGAGGCGGACCAGGTGAGTGGGATCTA GAAGTGGGAGTATGAGGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG01081.hp2 others(14): Show HG00558.hp1 HG00639.hp2 HG01081.hp2 HG01884.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG03486.hp2 HG03516.hp1 NA18980.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0008 others(2): Show a0001c0001 a0001c0005 a0001c0008 a0001c0013 a0005c0012	a0001c0001t0001 a0001c0005t0004 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0005t0004 a0001c0008t0001 a0001c0013t0004 a0005c0012t0001	a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0005t0004g0013 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0005t0004g0013 a0001c0005t0004g0016 a0001c0005t0004g0032 a0001c0008t0001g0011 a0001c0013t0004g0013 a0005c0012t0001g0034	17	418	0.0407	-117	c.210 others(15): Show c.210+540_210+656del	WFIKKN2	ENSG00000173714.8	transcript	ENST00000311378.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZBED6_chr1_203790623_203859124	203841860	GGAGGGGC others(110): Show GGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTC ACCTCCCAGATGGGGTGGCGGTCGGGCAGAGACACTCCTCAGTTCCCAGA CGGGGCCGCGGCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG06807.hp2 HG02055.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0031 a0001c0001t0006g0027 a0001c0001t0006g0031	2	384	0.0052	-117	c.37 others(21): Show c.3741+1501_*3741+1617del	ZBED6	ENSG00000257315.4	transcript	ENST00000550078.3	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZC3H11A_chr1_203790623_203859124	203841860	GGAGGGGC others(110): Show GGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTC ACCTCCCAGATGGGGTGGCGGTCGGGCAGAGACACTCCTCAGTTCCCAGA CGGGGCCGCGGCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG06807.hp2 HG02055.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0169 a0001c0003t0006g0173 a0001c0003t0006g0169 a0001c0003t0006g0173	2	384	0.0052	-117	c.104 others(19): Show c.1042+1501_1042+1617del	ZC3H11A	ENSG00000058673.17	transcript	ENST00000367210.3	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF200_chr16_3217325_3240158	3235608	CGCCCTAC others(110): Show CGCCCTACTCTCCCCACCCCCCACCCCCCTACTCTCCCCACCCCCCACCC CCCACCCCGCCACCCCCCACGGCGCCACCCCCCAACCCCCACCCCCCTAC TCTCCCCACCCCCCTACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG02622.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0008 a0001c0005t0001 a0001c0001t0008 a0001c0005t0001	a0001c0001t0008g0046 a0001c0005t0001g0047 a0001c0001t0008g0046 a0001c0005t0001g0047	2	390	0.0051	-117	c.-82 others(9): Show c.-820_-704del	ZNF200	ENSG00000010539.12	transcript	ENST00000414144.7	protein_coding		451		chr16	TogoVar
ZNF383_chr19_37213214_37253740	37253419	GTGGTGGC others(110): Show GTGGTGGCGGGCACCTGTAATCCCAGCTACCCAGGAGGCTGAGGCACGAG AATCACTTGAACCTGGGAGGTGGAGGTTTCATTGAGCCGAGATTGTGCCA CTGCACTCCAGCCTGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0070 a0001c0001t0012g0070	1	404	0.0025	-117	c.97 others(11): Show c.9756_*9872del	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding		4680		chr19	TogoVar
ZNF618_chr9_113871309_114061593	113900688	GCTGTCTC others(110): Show GCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCGACCTCCTGTCTCCTA GCACCGTCCTCTCGCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTC TCCCGCAAACCCGACCTC	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA19000.hp2 NA18963.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0018 a0001c0001t0001 a0001c0010t0018	a0001c0001t0001g0194 a0001c0010t0018g0231 a0001c0001t0001g0194 a0001c0010t0018g0231	2	264	0.0076	-117	c.33+ others(17): Show c.33+24338_33+24454del	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF618_chr9_113871309_114061593	113900833	AAACCCGA others(110): Show AAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCGACCT CCTGTCTCCTAGCACCGTCCTCTCGCGCTAACCCGACCTCCTGTCTCCTA GCACCGTCCTCTCCCGCG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	264	0.0038	-117	c.33+ others(17): Show c.33+24533_33+24649del	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar

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