Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DDB1_chr11_61294451_61338105	61316946	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02602.hp1 HG03492.hp2 others(1): Show HG01257.hp2 HG02602.hp1 HG03492.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0141	4	180	0.0222	-20	c.122 others(37): Show c.1226-399_1226-380delATATATATATATATATATAT	DDB1	ENSG00000167986.15	transcript	ENST00000301764.12	protein_coding	10/26			chr11	TogoVar
DDB1_chr11_61294451_61338105	61330147	ACCAAATT others(13): Show ACCAAATTCTTTAAGAATTTT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	180	0.0056	-20	c.211 others(33): Show c.211-93_211-74delAAAATTCTTAAAGAATTTGG	DDB1	ENSG00000167986.15	transcript	ENST00000301764.12	protein_coding	2/26			chr11	TogoVar
DDHD1_chr14_53031755_53158323	53155156	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01346.hp1 HG01433.hp2 others(12): Show HG01074.hp1 HG01346.hp1 HG01433.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02965.hp2 HG03195.hp1 HG03453.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0004c0005 a0001c0006 a0004c0005	a0001c0006t0006 a0001c0006t0057 a0004c0005t0006 others(1): Show a0001c0006t0006 a0001c0006t0057 a0004c0005t0006 a0004c0005t0058	a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 others(12): Show a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 a0001c0006t0006g0251 a0001c0006t0006g0252 a0001c0006t0057g0253 a0004c0005t0006g0254 a0004c0005t0006g0255 a0004c0005t0006g0257 a0004c0005t0006g0258 a0004c0005t0006g0259 a0004c0005t0006g0260 a0004c0005t0006g0261 a0004c0005t0006g0262 a0004c0005t0058g0256	15	290	0.0517	-20	c.-20 others(31): Show c.-2078_-2059delTTTTTTTTTTTTTTTTTTTT	DDHD1	ENSG00000100523.17	transcript	ENST00000673822.2	protein_coding		1834		chr14	TogoVar
DDR2_chr1_162627464_162792405	162673594	TATGTGTG others(13): Show TATGTGTGTGTGTGTGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0166 a0001c0001t0056g0166	1	302	0.0033	-20	c.-28 others(39): Show c.-28+18221_-28+18240delATGTGTGTGTGTGTGAGAGA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	2/17			chr1	TogoVar
DDR2_chr1_162627464_162792405	162741204	CAATACAA others(13): Show CAATACAATATAATATAATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0043 a0001c0007t0043	a0001c0007t0043g0076 a0001c0007t0043g0076	1	302	0.0033	-20	c.83- others(37): Show c.83-11886_83-11867delCAATATAATATAATATAATA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162741263	GTAATATA others(13): Show GTAATATAATATAATATAATA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp2 HG02809.hp2 others(10): Show HG01192.hp2 HG02280.hp2 HG02809.hp2 HG03710.hp1 NA18948.hp1 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA18978.hp1 NA19009.hp1 NA19070.hp2 NA19078.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0008 a0001c0002t0041	a0001c0001t0002g0114 a0001c0001t0003g0155 a0001c0001t0003g0156 others(10): Show a0001c0001t0002g0114 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0164 a0001c0001t0003g0168 a0001c0002t0008g0173 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0008g0295 a0001c0002t0041g0174	13	302	0.0431	-20	c.83- others(37): Show c.83-11793_83-11774delTATAATATAATATAATATAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162760447	CATATATA others(13): Show CATATATACATATACAACTAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02922.hp2 others(2): Show HG01891.hp1 HG02615.hp1 HG02922.hp2 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0040 a0001c0002t0048 others(1): Show a0001c0002t0022 a0001c0002t0040 a0001c0002t0048 a0001c0002t0053	a0001c0002t0022g0125 a0001c0002t0022g0172 a0001c0002t0040g0053 others(2): Show a0001c0002t0022g0125 a0001c0002t0022g0172 a0001c0002t0040g0053 a0001c0002t0048g0128 a0001c0002t0053g0296	5	302	0.0166	-20	c.855 others(35): Show c.855+493_855+512delATACATATACAACTATATAT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDTL_chr22_23961888_23977556	23970239	TGTGTATG others(13): Show TGTGTATGTGTGCGAATGTCA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG01346.hp1 others(12): Show HG01099.hp1 HG01243.hp2 HG01346.hp1 HG01891.hp1 HG01891.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02976.hp2 HG03130.hp1 HG06807.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0004c0006t0001	a0001c0001t0001g0009 a0001c0001t0007g0012 a0001c0001t0007g0025 others(2): Show a0001c0001t0001g0009 a0001c0001t0007g0012 a0001c0001t0007g0025 a0001c0001t0021g0020 a0004c0006t0001g0009	15	324	0.0463	-20	c.285 others(37): Show c.285-1043_285-1024delTATGTGTGCGAATGTCAGTG	DDTL	ENSG00000099974.8	transcript	ENST00000215770.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
DDT_chr22_23966370_23979441	23970239	TGTGTATG others(13): Show TGTGTATGTGTGCGAATGTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG01346.hp1 others(11): Show HG01099.hp2 HG01243.hp2 HG01346.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02818.hp2 HG02976.hp2 HG03130.hp1 HG06807.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0004c0005t0001g0026 a0001c0001t0001g0001 a0001c0001t0001g0011 a0004c0005t0001g0026	14	316	0.0443	-20	c.12 others(31): Show c.1292_*1311delTGACATTCGCACACATACAC	DDT	ENSG00000099977.16	transcript	ENST00000398344.9	protein_coding		1130		chr22	TogoVar
DDX10_chr11_108660069_108945927	108869925	ATTAGTAA others(13): Show ATTAGTAAATCCTATTTGACT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20129.hp2 HG00738.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0226 a0001c0001t0001g0067 a0001c0001t0001g0226	2	320	0.0063	-20	c.230 others(41): Show c.2304+17720_2304+17739delGTAAATCCTATTTGACTTTA	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX10_chr11_108660069_108945927	108910728	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp1 HG02970.hp2 others(2): Show HG02135.hp2 HG02155.hp1 HG02970.hp2 HG03540.hp2 NA19084.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0013 a0005c0011 a0001c0001 a0004c0013 a0005c0011	a0001c0001t0001 a0004c0013t0001 a0005c0011t0001 a0001c0001t0001 a0004c0013t0001 a0005c0011t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0308 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0308 a0004c0013t0001g0235 a0005c0011t0001g0234	5	320	0.0156	-20	c.230 others(39): Show c.2305-7102_2305-7083delGTGTGTGTGTGTGTGTGTGT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX10_chr11_108660069_108945927	108910781	GTGTGTGT others(13): Show GTGTGTGTGTCTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02922.hp1 HG02451.hp1 HG02559.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028	3	320	0.0094	-20	c.230 others(39): Show c.2305-7086_2305-7067delGTGTCTGTGTGTGTCTGTGT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX31_chr9_132587997_132674983	132632239	TGTACACA others(13): Show TGTACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp2 others(33): Show HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01106.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02293.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG03225.hp2 HG03831.hp2 HG03927.hp1 NA18949.hp1 NA18956.hp2 NA18966.hp2 NA18978.hp1 NA18988.hp2 NA18991.hp1 NA19066.hp2 NA19081.hp1 NA19084.hp1	a0001 a0006 a0012 a0001 a0006 a0012	a0001c0001 a0001c0003 a0006c0013 others(1): Show a0001c0001 a0001c0003 a0006c0013 a0012c0017	a0001c0001t0004 a0001c0003t0001 a0006c0013t0001 others(1): Show a0001c0001t0004 a0001c0003t0001 a0006c0013t0001 a0012c0017t0001	a0001c0001t0004g0166 a0001c0003t0001g0001 a0001c0003t0001g0004 others(30): Show a0001c0001t0004g0166 a0001c0003t0001g0001 a0001c0003t0001g0004 a0001c0003t0001g0011 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0006c0013t0001g0139 a0006c0013t0001g0140 a0012c0017t0001g0152	36	402	0.0896	-20	c.144 others(37): Show c.1441-168_1441-149delGTGTGTGTGTGTGTGTGTAC	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132653494	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0340 a0001c0001t0002g0340	1	402	0.0025	-20	c.589 others(37): Show c.589-1022_589-1003delTTTTTTTTTTTTTTTTTTTT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	6/19			chr9	TogoVar
DDX42_chr17_63769170_63824317	63789551	TTGTTTTT others(13): Show TTGTTTTTGTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0038 a0001c0001t0014g0038	1	332	0.0030	-20	c.221 others(37): Show c.221+2283_221+2302delGTTTTTGTTTTTGTTTTTGT	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DDX4_chr5_55733061_55822157	55733120	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02258.hp1 HG01346.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0283 a0001c0001t0001g0264 a0001c0001t0001g0283	2	346	0.0058	-20	c.-49 others(31): Show c.-4995_-4976delTCCTTCCTTCCTTCCTTCCT	DDX4	ENSG00000152670.19	transcript	ENST00000505374.6	protein_coding		4940		chr5	TogoVar
DDX50_chr10_68896315_68951847	68929288	CCTTCCTC others(13): Show CCTTCCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp1 NA19030.hp2 HG03041.hp2 NA18522.hp1 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0237 a0002c0004t0001g0238 a0002c0004t0001g0240 a0002c0004t0001g0237 a0002c0004t0001g0238 a0002c0004t0001g0240	3	334	0.0090	-20	c.124 others(39): Show c.1240-4908_1240-4889delTCCTCTCTCTCTCTCTCTCT	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX55_chr12_123597099_123625943	123617886	CGTTTTCA others(13): Show CGTTTTCAGATAGAATGCCTA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG00738.hp2 others(72): Show HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01516.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18977.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0004 a0002c0007 others(3): Show a0001c0002 a0002c0004 a0002c0007 a0002c0008 a0002c0011 a0004c0009	a0001c0002t0002 a0001c0002t0016 a0001c0002t0022 others(29): Show a0001c0002t0002 a0001c0002t0016 a0001c0002t0022 a0001c0002t0029 a0001c0002t0048 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0071 a0002c0004t0012 a0002c0004t0015 a0002c0004t0019 a0002c0004t0031 a0002c0004t0032 a0002c0004t0033 a0002c0004t0034 a0002c0004t0035 a0002c0004t0075 a0002c0004t0076 a0002c0004t0077 a0002c0007t0012 a0002c0007t0072 a0002c0008t0037 a0002c0008t0038 a0002c0008t0040 a0002c0008t0049 a0002c0011t0034 a0002c0011t0042 a0002c0011t0046 a0004c0009t0019 a0004c0009t0073 a0004c0009t0074	a0001c0002t0002g0002 a0001c0002t0002g0014 a0001c0002t0002g0029 others(51): Show a0001c0002t0002g0002 a0001c0002t0002g0014 a0001c0002t0002g0029 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0126 a0001c0002t0016g0010 a0001c0002t0016g0045 a0001c0002t0022g0128 a0001c0002t0022g0129 a0001c0002t0029g0084 a0001c0002t0029g0085 a0001c0002t0048g0010 a0001c0002t0050g0010 a0001c0002t0051g0010 a0001c0002t0052g0010 a0001c0002t0071g0088 a0002c0004t0012g0004 a0002c0004t0012g0061 a0002c0004t0015g0004 a0002c0004t0015g0032 a0002c0004t0015g0060 a0002c0004t0019g0058 a0002c0004t0031g0004 a0002c0004t0031g0059 a0002c0004t0032g0004 a0002c0004t0032g0057 a0002c0004t0033g0004 a0002c0004t0033g0046 a0002c0004t0034g0021 a0002c0004t0035g0021 a0002c0004t0035g0055 a0002c0004t0075g0004 a0002c0004t0076g0054 a0002c0004t0077g0021 a0002c0007t0012g0019 a0002c0007t0012g0048 a0002c0007t0012g0049 a0002c0007t0072g0019 a0002c0008t0037g0062 a0002c0008t0038g0081 a0002c0008t0040g0079 a0002c0008t0049g0080 a0002c0011t0034g0056 a0002c0011t0042g0068 a0002c0011t0046g0067 a0004c0009t0019g0012 a0004c0009t0073g0012 a0004c0009t0074g0012	75	304	0.2467	-20	c.116 others(35): Show c.1164+17_1164+36delTTTCAGATAGAATGCCTAGT	DDX55	ENSG00000111364.16	transcript	ENST00000238146.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX55_chr12_123597099_123625943	123620580	TTATATAT others(13): Show TTATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0040 a0002c0008t0040	a0002c0008t0040g0079 a0002c0008t0040g0079	1	304	0.0033	-20	c.46 others(29): Show c.469_*488delTATATATATATATATATATA	DDX55	ENSG00000111364.16	transcript	ENST00000238146.9	protein_coding	14/14	469	INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX60L_chr4_168351735_168485492	168420457	TACACATA others(13): Show TACACATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00609.hp1 others(70): Show HG00323.hp1 HG00438.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02523.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG03098.hp2 HG03239.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04228.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp2 NA18972.hp1 NA18990.hp2 NA18997.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19087.hp2 NA19090.hp1 NA20805.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0018 a0020 a0022 a0023 a0025 a0030 a0032 a0046 a0047 a0055	a0001c0002 a0001c0016 a0001c0042 others(24): Show a0001c0002 a0001c0016 a0001c0042 a0001c0064 a0002c0004 a0003c0012 a0004c0005 a0004c0011 a0004c0019 a0004c0025 a0004c0080 a0005c0003 a0005c0047 a0007c0007 a0007c0020 a0009c0029 a0011c0010 a0018c0096 a0020c0023 a0022c0033 a0023c0054 a0025c0046 a0030c0031 a0032c0094 a0046c0076 a0047c0075 a0055c0050	a0001c0002t0001 a0001c0002t0007 a0001c0016t0001 others(25): Show a0001c0002t0001 a0001c0002t0007 a0001c0016t0001 a0001c0042t0001 a0001c0064t0001 a0002c0004t0002 a0003c0012t0002 a0004c0005t0001 a0004c0011t0001 a0004c0019t0001 a0004c0025t0001 a0004c0080t0001 a0005c0003t0001 a0005c0047t0001 a0007c0007t0001 a0007c0020t0008 a0009c0029t0001 a0011c0010t0012 a0018c0096t0001 a0020c0023t0001 a0022c0033t0001 a0023c0054t0002 a0025c0046t0001 a0030c0031t0004 a0032c0094t0004 a0046c0076t0002 a0047c0075t0004 a0055c0050t0001	a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0026 others(70): Show a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0111 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0265 a0001c0002t0007g0032 a0001c0016t0001g0160 a0001c0016t0001g0222 a0001c0016t0001g0225 a0001c0042t0001g0146 a0001c0064t0001g0031 a0002c0004t0002g0010 a0002c0004t0002g0044 a0002c0004t0002g0047 a0003c0012t0002g0172 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0011t0001g0112 a0004c0011t0001g0161 a0004c0019t0001g0070 a0004c0025t0001g0236 a0004c0080t0001g0227 a0005c0003t0001g0015 a0005c0003t0001g0018 a0005c0003t0001g0162 a0005c0003t0001g0166 a0005c0003t0001g0170 a0005c0003t0001g0174 a0005c0003t0001g0177 a0005c0003t0001g0188 a0005c0003t0001g0190 a0005c0003t0001g0210 a0005c0003t0001g0228 a0005c0047t0001g0167 a0007c0007t0001g0009 a0007c0007t0001g0229 a0007c0020t0008g0195 a0007c0020t0008g0196 a0009c0029t0001g0125 a0011c0010t0012g0149 a0018c0096t0001g0127 a0020c0023t0001g0075 a0020c0023t0001g0077 a0020c0023t0001g0078 a0022c0033t0001g0108 a0022c0033t0001g0109 a0023c0054t0002g0081 a0025c0046t0001g0126 a0025c0046t0001g0129 a0030c0031t0004g0211 a0032c0094t0004g0046 a0046c0076t0002g0224 a0047c0075t0004g0223 a0055c0050t0001g0062	73	268	0.2724	-20	c.239 others(35): Show c.2395-97_2395-78delGTGTGTGTGTGTGTATGTGT	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	17/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168420674	TAGATAGA others(13): Show TAGATAGATAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0024 a0024	a0024c0043 a0024c0043	a0024c0043t0002 a0024c0043t0002	a0024c0043t0002g0107 a0024c0043t0002g0107	1	268	0.0037	-20	c.239 others(37): Show c.2395-314_2395-295delGTCTGTCTGTCTATCTATCT	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	17/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168459774	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0070 a0004c0019t0001g0070	1	268	0.0037	-20	c.607 others(37): Show c.607-1786_607-1767delTTCCTTCCTTCCTTCCTTCC	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	5/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168238420	GAGGGAAG others(13): Show GAGGGAAGGGAAGGGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01884.hp1 HG02559.hp2 others(17): Show HG01256.hp1 HG01884.hp1 HG02559.hp2 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18964.hp1 NA19043.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0011 a0013	a0001c0001 a0001c0008 a0002c0007 others(3): Show a0001c0001 a0001c0008 a0002c0007 a0005c0011 a0011c0021 a0013c0020	a0001c0001t0001 a0001c0008t0001 a0002c0007t0001 others(3): Show a0001c0001t0001 a0001c0008t0001 a0002c0007t0001 a0005c0011t0001 a0011c0021t0001 a0013c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0035 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0143 a0001c0001t0001g0169 a0001c0001t0001g0260 a0001c0008t0001g0267 a0002c0007t0001g0224 a0002c0007t0001g0225 a0005c0011t0001g0125 a0005c0011t0001g0126 a0011c0021t0001g0127 a0013c0020t0001g0212	20	270	0.0741	-20	c.416 others(37): Show c.4165-645_4165-626delTCCCTTCCCTTCCCTTCCCT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	30/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168265835	AGGAAGGG others(13): Show AGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01952.hp1 HG01978.hp2 others(25): Show HG00642.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02717.hp2 HG02965.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 NA18906.hp1 NA18948.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18998.hp1 NA19001.hp2 NA19054.hp2 NA19055.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0002c0002 a0002c0007 others(5): Show a0001c0001 a0002c0002 a0002c0007 a0002c0023 a0002c0024 a0002c0035 a0005c0011 a0011c0021	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0002c0023t0001 a0002c0024t0001 a0002c0035t0001 a0005c0011t0001 a0011c0021t0001	a0001c0001t0001g0189 a0002c0002t0001g0004 a0002c0002t0001g0007 others(25): Show a0001c0001t0001g0189 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0085 a0002c0002t0001g0098 a0002c0002t0001g0226 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0242 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0007t0001g0122 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0023t0001g0185 a0002c0024t0001g0128 a0002c0035t0001g0231 a0005c0011t0001g0121 a0005c0011t0001g0125 a0005c0011t0001g0126 a0011c0021t0001g0127	28	270	0.1037	-20	c.303 others(39): Show c.3039+1727_3039+1746delCTTCCCTTCCCTTCCCTTCC	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	22/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168285896	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(100): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG02004.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18959.hp2 NA18964.hp1 NA18982.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp2 NA19001.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19068.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0011 a0016 a0017 a0019	a0001c0001 a0001c0003 a0001c0006 others(17): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0028 a0001c0032 a0001c0036 a0002c0007 a0002c0023 a0002c0024 a0004c0005 a0005c0011 a0006c0017 a0011c0021 a0016c0027 a0017c0031 a0019c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0001c0010t0001 a0001c0010t0005 a0001c0012t0001 a0001c0012t0004 a0001c0013t0001 a0001c0028t0001 a0001c0032t0001 a0001c0036t0001 a0002c0007t0001 a0002c0023t0001 a0002c0024t0001 a0004c0005t0001 a0005c0011t0001 a0006c0017t0001 a0011c0021t0001 a0016c0027t0001 a0017c0031t0001 a0019c0038t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0097 others(100): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0268 a0001c0001t0002g0142 a0001c0001t0003g0190 a0001c0003t0001g0017 a0001c0003t0001g0100 a0001c0003t0001g0102 a0001c0003t0001g0204 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0220 a0001c0003t0001g0269 a0001c0006t0001g0195 a0001c0006t0001g0196 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0001c0006t0001g0200 a0001c0008t0001g0032 a0001c0010t0001g0230 a0001c0010t0001g0239 a0001c0010t0005g0240 a0001c0012t0001g0205 a0001c0012t0001g0221 a0001c0012t0004g0206 a0001c0013t0001g0202 a0001c0013t0001g0203 a0001c0013t0001g0219 a0001c0028t0001g0159 a0001c0032t0001g0207 a0001c0036t0001g0183 a0002c0007t0001g0122 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0023t0001g0185 a0002c0024t0001g0128 a0004c0005t0001g0059 a0004c0005t0001g0133 a0004c0005t0001g0134 a0004c0005t0001g0135 a0004c0005t0001g0136 a0004c0005t0001g0137 a0004c0005t0001g0138 a0004c0005t0001g0139 a0005c0011t0001g0121 a0005c0011t0001g0125 a0005c0011t0001g0126 a0006c0017t0001g0210 a0006c0017t0001g0211 a0011c0021t0001g0127 a0016c0027t0001g0209 a0017c0031t0001g0173 a0019c0038t0001g0132	103	270	0.3815	-20	c.134 others(37): Show c.1340-418_1340-399delCCTTCCTTCCTTCCTTCCTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	10/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168294092	CATAAAAA others(13): Show CATAAAAAACCTACACATATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0208 a0003c0004t0001g0208	1	270	0.0037	-20	c.724 others(35): Show c.724-167_724-148delTATATGTGTAGGTTTTTTAT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168297297	CGAAAGAA others(13): Show CGAAAGAAAGAAAGAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02132.hp1 HG02559.hp1 others(5): Show HG01261.hp2 HG02132.hp1 HG02559.hp1 HG03831.hp1 HG03831.hp2 NA18942.hp1 NA18948.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0031 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0118	8	270	0.0296	-20	c.724 others(37): Show c.724-3372_724-3353delTTTCTTTCTTTCTTTCTTTC	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DEDD2_chr19_42193598_42222677	42195071	AAGGAAGG others(13): Show AAGGAAGGGAGGGAGGAAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(182): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19079.hp1 NA19079.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0004g0095 a0001c0001t0005g0088 a0001c0001t0006g0087 a0001c0001t0007g0054 a0001c0001t0008g0089 a0001c0005t0001g0076	185	252	0.7341	-20	c.43 others(31): Show c.4347_*4366delCCCTTCCTCCCTCCCTTCCT	DEDD2	ENSG00000160570.14	transcript	ENST00000596251.6	protein_coding		3526		chr19	TogoVar
DEDD2_chr19_42193598_42222677	42195646	CTTCCCTC others(13): Show CTTCCCTCCCTCCCTTCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA19240.hp1 HG03139.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	252	0.0079	-20	c.37 others(31): Show c.3772_*3791delAGAGGAAGGGAGGGAGGGAA	DEDD2	ENSG00000160570.14	transcript	ENST00000596251.6	protein_coding		2951		chr19	TogoVar
DEF6_chr6_35292818_35326771	35308672	CAAAATAA others(13): Show CAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02895.hp2 HG02897.hp1 others(7): Show HG02257.hp1 HG02895.hp2 HG02897.hp1 NA18948.hp2 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18977.hp1 NA19009.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0001g0121 a0001c0001t0001g0122 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0173 a0001c0001t0002g0017 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045	10	326	0.0307	-20	c.97- others(33): Show c.97-959_97-940delATAAAATAAAATAAAATAAA	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
DEF6_chr6_35292818_35326771	35323101	AACTCCCG others(13): Show AACTCCCGGGCTCAAGCAGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	326	0.0031	-20	c.16 others(31): Show c.1692_*1711delACTCCCGGGCTCAAGCAGTT	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding		1331		chr6	TogoVar
DEFA1_chr8_6972649_6985092	6974207	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0028 a0002c0002t0003g0028	1	408	0.0025	-20	c.35 others(31): Show c.3543_*3562delGAAAGAAAGAAAGAAAGAAA	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		3441		chr8	TogoVar
DEFB123_chr20_31435632_31455257	31450560	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	372	0.0027	-20	c.38 others(29): Show c.387_*406delTATATATATATTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		304		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450562	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG03209.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136	3	372	0.0081	-20	c.38 others(29): Show c.389_*408delTATATATATTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		306		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450564	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	372	0.0027	-20	c.39 others(29): Show c.391_*410delTATATATTTTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		308		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31462454	AAATATAT others(13): Show AAATATATATATATATATAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp2 HG03225.hp1 others(3): Show HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG06807.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0002 a0001c0001t0002 a0003c0002t0002	a0001c0001t0002g0125 a0001c0001t0002g0146 a0001c0001t0002g0147 others(3): Show a0001c0001t0002g0125 a0001c0001t0002g0146 a0001c0001t0002g0147 a0003c0002t0002g0117 a0003c0002t0002g0118 a0003c0002t0002g0119	6	362	0.0166	-20	c.30 others(31): Show c.3032_*3051delCTTATATATATATATATATT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		3016		chr20	TogoVar
DEFB132_chr20_252724_266096	258257	TGGCAGGT others(13): Show TGGCAGGTGGGGGATGGAAGC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	430	0.0023	-20	c.58+ others(33): Show c.58+422_58+441delGGCAGGTGGGGGATGGAAGC	DEFB132	ENSG00000186458.5	transcript	ENST00000382376.4	protein_coding	1/1			chr20	TogoVar
DEFB134_chr8_11988174_12005752	12001878	CTCTCTCT others(13): Show CTCTCTCTCTTTCTTTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp2 others(6): Show HG00323.hp1 HG00323.hp2 HG00639.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp2 HG04199.hp2 HG04228.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0055 a0001c0001t0003g0003 a0001c0001t0003g0055	9	448	0.0201	-20	c.-12 others(31): Show c.-1238_-1219delAAGAAAAAGAAAGAGAGAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1127		chr8	TogoVar
DEFB134_chr8_11988174_12005752	12001944	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG03579.hp1 HG00423.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0010 a0001c0001t0006 a0001c0002t0010	a0001c0001t0006g0152 a0001c0002t0010g0016 a0001c0001t0006g0152 a0001c0002t0010g0016	2	448	0.0045	-20	c.-13 others(31): Show c.-1304_-1285delGAGAAAGAAAGAAAGAAAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1193		chr8	TogoVar
DEFB1_chr8_6865592_6882936	6870380	AAAACCAA others(13): Show AAAACCAAAAAAAAAAAAACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(173): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02970.hp2 HG03209.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0005 a0001c0006 others(4): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0003c0003 a0005c0008 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0005t0001 a0001c0006t0001 a0002c0002t0005 a0003c0003t0001 a0005c0008t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0025 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0004g0054 a0001c0001t0004g0134 a0001c0001t0004g0142 a0001c0001t0004g0155 a0001c0001t0005g0075 a0001c0001t0013g0103 a0001c0005t0001g0046 a0001c0006t0001g0049 a0002c0002t0005g0009 a0003c0003t0001g0015 a0003c0003t0001g0116 a0005c0008t0001g0067 a0006c0007t0001g0105	176	478	0.3682	-20	c.28 others(29): Show c.281_*300delGGTTTTTTTTTTTTTGGTTT	DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding		211		chr8	TogoVar
DEGS2_chr14_100138957_100164645	100153252	CAGATAGA others(13): Show CAGATAGATAGATAGATAGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(110): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01928.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02922.hp1 HG02970.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp2 NA19009.hp2 NA19030.hp1 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA20805.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0006c0010	a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0001t0049 a0001c0003t0003 a0003c0004t0001 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0009g0019 a0001c0001t0017g0038 a0001c0001t0019g0087 a0001c0001t0027g0083 a0001c0001t0031g0084 a0001c0001t0032g0082 a0001c0001t0036g0088 a0001c0001t0037g0085 a0001c0001t0049g0067 a0001c0003t0003g0066 a0003c0004t0001g0011 a0003c0004t0001g0245 a0006c0010t0001g0073	113	440	0.2568	-20	c.83- others(35): Show c.83-3562_83-3543delATCTATCTATCTATCTATCT	DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding	1/2			chr14	TogoVar
DEK_chr6_18218860_18269530	18259394	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00609.hp2 others(59): Show HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01346.hp1 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG03017.hp1 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18966.hp2 NA18979.hp2 NA18982.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19054.hp2 NA19057.hp2 NA19064.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19091.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0014 a0001c0005t0017 a0001c0001t0001 a0001c0001t0014 a0001c0005t0017	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0177 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0014g0034 a0001c0005t0017g0331	62	364	0.1703	-20	c.146 others(36): Show c.146-1009_146-990delTTTTTTTTTTTTTTTTTTTT	DEK	ENSG00000124795.17	transcript	ENST00000652689.1	protein_coding	2/10			chr6	TogoVar
DENND1A_chr9_123374658_123935126	123514090	GTGTGTGT others(13): Show GTGTGTGTATGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0016 a0001c0002t0012g0016	1	162	0.0062	-20	c.993 others(39): Show c.993+43460_993+43479delGACACACACACATACACACA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123538805	CATACATA others(13): Show CATACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18965.hp1 HG02602.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0009 a0001c0001t0003 a0001c0002t0009	a0001c0001t0003g0045 a0001c0002t0009g0037 a0001c0001t0003g0045 a0001c0002t0009g0037	2	162	0.0124	-20	c.993 others(39): Show c.993+18745_993+18764delATATATATATATATATGTAT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123538809	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02735.hp1 HG02040.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0018 a0001c0002t0002 a0001c0002t0018	a0001c0002t0002g0012 a0001c0002t0018g0028 a0001c0002t0002g0012 a0001c0002t0018g0028	2	162	0.0124	-20	c.993 others(39): Show c.993+18741_993+18760delATATATATATATATATATAT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123674342	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02559.hp1 others(8): Show HG01243.hp2 HG01891.hp1 HG02559.hp1 HG02723.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA19240.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0012 others(1): Show a0001c0001 a0001c0005 a0001c0012 a0005c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0005t0005 a0001c0012t0007 a0005c0020t0006	a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0003g0132 others(8): Show a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0003g0132 a0001c0001t0006g0142 a0001c0001t0012g0127 a0001c0005t0005g0123 a0001c0005t0005g0125 a0001c0005t0005g0128 a0001c0005t0005g0133 a0001c0012t0007g0141 a0005c0020t0006g0140	11	162	0.0679	-20	c.372 others(37): Show c.372+2358_372+2377delTGTGTGTGTGTGTGTGTGTG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	6/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123888956	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	162	0.0062	-20	c.18- others(35): Show c.18-9955_18-9936delCACACACACACACACACACA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	1/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197555235	CCCTAGAA others(13): Show CCCTAGAAGAAAACCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG03239.hp2 others(2): Show HG02451.hp2 HG02572.hp1 HG03239.hp2 NA18966.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0205 a0001c0001t0001g0224 a0001c0001t0009g0248 others(2): Show a0001c0001t0001g0205 a0001c0001t0001g0224 a0001c0001t0009g0248 a0001c0001t0019g0066 a0001c0001t0020g0155	5	280	0.0179	-20	c.115 others(39): Show c.1150-2143_1150-2124delAAGAAAGGTTTTCTTCTAGG	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	15/22			chr1	TogoVar
DENND1C_chr19_6462207_6486787	6480561	CCTATCTA others(13): Show CCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 HG03486.hp1 others(3): Show HG02559.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp1 NA18906.hp1 NA18982.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0003 a0007c0013 others(1): Show a0001c0001 a0002c0003 a0007c0013 a0008c0015	a0001c0001t0001 a0002c0003t0001 a0007c0013t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0007c0013t0001 a0008c0015t0001	a0001c0001t0001g0149 a0001c0001t0001g0327 a0002c0003t0001g0101 others(3): Show a0001c0001t0001g0149 a0001c0001t0001g0327 a0002c0003t0001g0101 a0002c0003t0001g0326 a0007c0013t0001g0325 a0008c0015t0001g0328	6	420	0.0143	-20	c.18- others(33): Show c.18-530_18-511delATAGATAGATAGATAGATAG	DENND1C	ENSG00000205744.10	transcript	ENST00000381480.7	protein_coding	1/22			chr19	TogoVar
DENND2B_chr11_8688352_8815674	8727964	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00673.hp2 others(77): Show HG00438.hp1 HG00639.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18947.hp2 NA18954.hp1 NA18955.hp2 NA18970.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18989.hp2 NA18992.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19063.hp2 NA19074.hp1 NA19079.hp2 NA19084.hp1 NA19086.hp2	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0001 a0001c0011 a0013c0015 others(1): Show a0001c0001 a0001c0011 a0013c0015 a0014c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0011t0002 a0013c0015t0001 a0014c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0187 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0330 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0002g0021 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0121 a0001c0001t0002g0200 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0270 a0001c0001t0002g0341 a0001c0001t0002g0346 a0001c0001t0003g0004 a0001c0001t0003g0080 a0001c0001t0003g0171 a0001c0001t0003g0221 a0001c0001t0003g0240 a0001c0001t0003g0251 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0011t0002g0250 a0013c0015t0001g0243 a0014c0012t0001g0236	80	352	0.2273	-20	c.134 others(39): Show c.1341-1775_1341-1756delGTGTGTGTGTGTGTGTGTGT	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	3/19			chr11	TogoVar

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