Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
DAPK1_chr9_87492867_87713634	87668594	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG00741.hp2 HG01255.hp2 others(10): Show HG00735.hp2 HG00741.hp2 HG01255.hp2 HG03017.hp1 NA18522.hp2 NA18948.hp1 NA18950.hp1 NA18968.hp2 NA18969.hp2 NA18988.hp1 NA19007.hp2 NA19011.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0020 a0001c0034 others(2): Show a0001c0009 a0001c0020 a0001c0034 a0001c0038 a0002c0016	a0001c0009t0001 a0001c0009t0003 a0001c0020t0001 others(5): Show a0001c0009t0001 a0001c0009t0003 a0001c0020t0001 a0001c0034t0001 a0001c0038t0001 a0002c0016t0001 a0002c0016t0002 a0002c0016t0003	a0001c0009t0001g0063 a0001c0009t0001g0095 a0001c0009t0001g0175 others(10): Show a0001c0009t0001g0063 a0001c0009t0001g0095 a0001c0009t0001g0175 a0001c0009t0001g0205 a0001c0009t0001g0207 a0001c0009t0003g0121 a0001c0020t0001g0051 a0001c0020t0001g0079 a0001c0034t0001g0059 a0001c0038t0001g0010 a0002c0016t0001g0151 a0002c0016t0002g0158 a0002c0016t0003g0114	13	236	0.0551	0	c.192 others(6): Show c.1924-3C>T		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	18/25					chr9	TogoVar
DAPK1_chr9_87492867_87713634	87668599	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00735.hp2 HG00741.hp2 HG01255.hp2 others(10): Show HG00735.hp2 HG00741.hp2 HG01255.hp2 HG03017.hp1 NA18522.hp2 NA18948.hp1 NA18950.hp1 NA18968.hp2 NA18969.hp2 NA18988.hp1 NA19007.hp2 NA19011.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0020 a0001c0034 others(2): Show a0001c0009 a0001c0020 a0001c0034 a0001c0038 a0002c0016	a0001c0009t0001 a0001c0009t0003 a0001c0020t0001 others(5): Show a0001c0009t0001 a0001c0009t0003 a0001c0020t0001 a0001c0034t0001 a0001c0038t0001 a0002c0016t0001 a0002c0016t0002 a0002c0016t0003	a0001c0009t0001g0063 a0001c0009t0001g0095 a0001c0009t0001g0175 others(10): Show a0001c0009t0001g0063 a0001c0009t0001g0095 a0001c0009t0001g0175 a0001c0009t0001g0205 a0001c0009t0001g0207 a0001c0009t0003g0121 a0001c0020t0001g0051 a0001c0020t0001g0079 a0001c0034t0001g0059 a0001c0038t0001g0010 a0002c0016t0001g0151 a0002c0016t0002g0158 a0002c0016t0003g0114	13	236	0.0551	0	c.192 others(4): Show c.1926C>T	p.Asp others(6): Show p.Asp642Asp	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	19/26	2275/5912	1926/4293	642/1430		chr9	TogoVar
DAPK1_chr9_87492867_87713634	87698802	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(64): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp2 HG02071.hp2 HG02145.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02572.hp1 HG02738.hp2 HG03130.hp2 HG03490.hp2 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 NA18747.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18969.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18990.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0030 a0001c0031 a0001c0034 a0001c0037 a0001c0038 a0001c0039	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(16): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0012 a0001c0004t0014 a0001c0005t0001 a0001c0030t0001 a0001c0031t0001 a0001c0034t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001	a0001c0001t0001g0056 a0001c0001t0001g0102 a0001c0001t0001g0141 others(64): Show a0001c0001t0001g0056 a0001c0001t0001g0102 a0001c0001t0001g0141 a0001c0001t0001g0171 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0049 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0092 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0128 a0001c0002t0001g0133 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0154 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0166 a0001c0002t0001g0182 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0211 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0004g0075 a0001c0002t0004g0219 a0001c0002t0005g0184 a0001c0002t0011g0077 a0001c0002t0013g0132 a0001c0004t0001g0002 a0001c0004t0001g0071 a0001c0004t0001g0074 a0001c0004t0001g0076 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0097 a0001c0004t0001g0127 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0170 a0001c0004t0001g0173 a0001c0004t0001g0177 a0001c0004t0001g0208 a0001c0004t0003g0111 a0001c0004t0003g0120 a0001c0004t0005g0180 a0001c0004t0005g0185 a0001c0004t0012g0179 a0001c0004t0014g0178 a0001c0005t0001g0181 a0001c0030t0001g0153 a0001c0031t0001g0125 a0001c0034t0001g0059 a0001c0037t0001g0014 a0001c0038t0001g0010 a0001c0039t0001g0213	67	236	0.2839	0	c.275 others(6): Show c.2750+8G>T		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	23/25					chr9	TogoVar
DAPK2_chr15_63902036_64051485	63912195	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03654.hp1 NA20905.hp1 HG03654.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0004 a0001c0004t0001 a0001c0004t0004	a0001c0004t0001g0121 a0001c0004t0004g0035 a0001c0004t0001g0121 a0001c0004t0004g0035	2	214	0.0094	0	c.861 others(3): Show c.861G>A	p.Pro others(6): Show p.Pro287Pro	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	10/12	1055/2791	861/1113	287/370		chr15	TogoVar
DAPK2_chr15_63902036_64051485	63925943	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01891.hp1 HG02615.hp1 HG02622.hp1 others(4): Show HG01891.hp1 HG02615.hp1 HG02622.hp1 HG03195.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0016 a0001c0002t0003 a0001c0002t0010 a0001c0002t0016	a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0010g0058 others(4): Show a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0010g0058 a0001c0002t0010g0061 a0001c0002t0010g0072 a0001c0002t0010g0085 a0001c0002t0016g0004	7	214	0.0327	0	c.810 others(3): Show c.810C>T	p.Thr others(6): Show p.Thr270Thr	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	8/12	1004/2791	810/1113	270/370		chr15	TogoVar
DAPK2_chr15_63902036_64051485	63926101	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0042 a0001c0001t0004g0043	2	214	0.0094	0	c.660 others(5): Show c.660-8G>A		DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	7/11					chr15	TogoVar
DAPK3_chr19_3953453_3976099	3961005	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp1 NA18522.hp1 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0134 a0001c0001t0003g0121 a0001c0001t0003g0134	2	364	0.0055	0	c.782 others(5): Show c.782+4C>T		DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding	7/8					chr19	TogoVar
DAPP1_chr4_99811827_99875190	99840290	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0018 a0002c0006t0003g0018	1	366	0.0027	0	c.226 others(3): Show c.226G>T	p.Ala others(5): Show p.Ala76Ser	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	3/9	313/2935	226/843	76/280		chr4	TogoVar
DAPP1_chr4_99811827_99875190	99863006	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00738.hp2 HG01175.hp2 others(6): Show HG00140.hp2 HG00738.hp2 HG01175.hp2 HG02698.hp1 HG03017.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0006 a0001c0001t0018	a0001c0001t0006g0008 a0001c0001t0006g0042 a0001c0001t0006g0043 others(3): Show a0001c0001t0006g0008 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0018g0160 a0001c0001t0018g0161	9	366	0.0246	0	c.538 others(5): Show c.538-4T>G		DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	5/8					chr4	TogoVar
DARS1_chr2_135900881_135990626	135907405	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02559.hp1 HG02615.hp1 HG02895.hp1 others(15): Show HG02559.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03491.hp2 HG03688.hp2 HG04199.hp2 NA18947.hp2 NA18952.hp2 NA18990.hp1 NA19083.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 others(6): Show a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 a0001c0002t0017 a0001c0002t0022 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030	a0001c0002t0008g0250 a0001c0002t0008g0252 a0001c0002t0008g0253 others(15): Show a0001c0002t0008g0250 a0001c0002t0008g0252 a0001c0002t0008g0253 a0001c0002t0008g0254 a0001c0002t0008g0255 a0001c0002t0009g0266 a0001c0002t0009g0267 a0001c0002t0009g0268 a0001c0002t0009g0269 a0001c0002t0009g0270 a0001c0002t0016g0261 a0001c0002t0017g0248 a0001c0002t0017g0251 a0001c0002t0022g0093 a0001c0002t0027g0262 a0001c0002t0028g0246 a0001c0002t0029g0260 a0001c0002t0030g0247	18	378	0.0476	0	c.141 others(4): Show c.1417T>C	p.Leu others(6): Show p.Leu473Leu	DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	16/16	1575/3099	1417/1506	473/501		chr2	TogoVar
DARS1_chr2_135900881_135990626	135932842	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0283 a0005c0004t0002g0283	1	378	0.0027	0	c.505 others(3): Show c.505G>A	p.Glu others(6): Show p.Glu169Lys	DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	7/16	663/3099	505/1506	169/501		chr2	TogoVar
DARS1_chr2_135900881_135990626	135932844	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(263): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0006 a0004c0007 a0005c0004 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 a0001c0002t0017 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0005t0002 a0002c0003t0001 a0003c0006t0001 a0004c0007t0001 a0005c0004t0002 a0006c0008t0034	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(248): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0099 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 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 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0005g0017 a0001c0001t0005g0275 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0300 a0001c0001t0005g0302 a0001c0001t0005g0309 a0001c0001t0005g0315 a0001c0001t0005g0326 a0001c0001t0006g0179 a0001c0001t0006g0181 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0007g0196 a0001c0001t0007g0197 a0001c0001t0010g0265 a0001c0001t0010g0271 a0001c0001t0010g0313 a0001c0001t0010g0322 a0001c0001t0011g0276 a0001c0001t0011g0279 a0001c0001t0011g0281 a0001c0001t0011g0301 a0001c0001t0012g0175 a0001c0001t0012g0176 a0001c0001t0012g0177 a0001c0001t0013g0273 a0001c0001t0013g0274 a0001c0001t0013g0277 a0001c0001t0014g0178 a0001c0001t0014g0180 a0001c0001t0015g0257 a0001c0001t0015g0258 a0001c0001t0016g0263 a0001c0001t0018g0284 a0001c0001t0018g0285 a0001c0001t0019g0150 a0001c0001t0020g0151 a0001c0001t0021g0182 a0001c0001t0023g0256 a0001c0001t0024g0259 a0001c0001t0025g0249 a0001c0001t0026g0264 a0001c0001t0031g0307 a0001c0001t0032g0280 a0001c0001t0033g0323 a0001c0002t0008g0250 a0001c0002t0008g0252 a0001c0002t0008g0253 a0001c0002t0008g0254 a0001c0002t0008g0255 a0001c0002t0009g0267 a0001c0002t0009g0268 a0001c0002t0009g0269 a0001c0002t0009g0270 a0001c0002t0016g0261 a0001c0002t0017g0248 a0001c0002t0017g0251 a0001c0002t0027g0262 a0001c0002t0028g0246 a0001c0002t0029g0260 a0001c0002t0030g0247 a0001c0005t0002g0304 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0003c0006t0001g0140 a0004c0007t0001g0126 a0005c0004t0002g0283 a0006c0008t0034g0272	266	378	0.7037	-1	c.505 others(6): Show c.505-3delT		DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	6/15					chr2	TogoVar
DARS2_chr1_173819673_173863546	173826665	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG02647.hp1 HG02922.hp1 others(5): Show HG00544.hp1 HG02647.hp1 HG02922.hp1 HG03209.hp2 HG03225.hp1 HG03688.hp1 NA18967.hp1 NA18967.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0008	a0001c0001t0001g0167 a0001c0001t0001g0312 a0001c0001t0001g0313 others(5): Show a0001c0001t0001g0167 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0324 a0001c0001t0002g0238 a0002c0002t0001g0110 a0002c0002t0001g0123 a0002c0002t0008g0028	8	344	0.0233	1	c.128 others(6): Show c.128-5dupT		DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	1/16				INFO_REALIGN_3_PRIME	chr1	TogoVar
DARS2_chr1_173819673_173863546	173826665	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00408.hp2 HG01069.hp2 others(12): Show HG00323.hp2 HG00408.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02135.hp1 HG03041.hp2 HG03834.hp1 NA18946.hp1 NA18986.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0111 a0001c0001t0001g0155 a0001c0001t0001g0180 others(12): Show a0001c0001t0001g0111 a0001c0001t0001g0155 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0144 a0001c0001t0002g0168 a0001c0001t0003g0244	15	344	0.0436	-1	c.128 others(6): Show c.128-5delT		DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	1/16				INFO_REALIGN_3_PRIME	chr1	TogoVar
DARS2_chr1_173819673_173863546	173826683	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG03225.hp1 HG02145.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0237 a0001c0001t0002g0238	2	344	0.0058	0	c.128 others(5): Show c.128-4A>T		DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	1/16					chr1	TogoVar
DARS2_chr1_173819673_173863546	173831529	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp2 HG01516.hp2 HG01517.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0304 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0304	3	344	0.0087	0	c.397 others(5): Show c.397-6T>G		DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	4/16					chr1	TogoVar
DARS2_chr1_173819673_173863546	173833373	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG03098.hp2 HG02630.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0092 a0001c0001t0001g0055 a0001c0001t0001g0092	2	344	0.0058	0	c.493 others(5): Show c.493-3T>C		DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	5/16					chr1	TogoVar
DARS2_chr1_173819673_173863546	173834527	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02886.hp1 HG02922.hp1 others(5): Show HG02647.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0029 a0002c0002t0001g0052 a0002c0002t0001g0053 others(5): Show a0002c0002t0001g0029 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0110 a0002c0002t0001g0114 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0008g0028	8	344	0.0233	0	c.663 others(5): Show c.663+8T>C		DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	7/16					chr1	TogoVar
DAW1_chr2_227866631_227929344	227893796	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18968.hp1 NA19074.hp2 NA18968.hp1 NA19074.hp2	a0009 a0010 a0009 a0010	a0009c0007 a0010c0006 a0009c0007 a0010c0006	a0009c0007t0001 a0010c0006t0001 a0009c0007t0001 a0010c0006t0001	a0009c0007t0001g0288 a0010c0006t0001g0287 a0009c0007t0001g0288 a0010c0006t0001g0287	2	340	0.0059	0	c.319 others(3): Show c.319T>G	p.Phe others(6): Show p.Phe107Val	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	5/13	378/1683	319/1248	107/415		chr2	TogoVar
DAW1_chr2_227866631_227929344	227906231	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18961.hp2 NA19004.hp2 NA18961.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0231 a0001c0001t0001g0191 a0001c0001t0001g0231	2	340	0.0059	0	c.756 others(5): Show c.756-5T>C		DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	8/12					chr2	TogoVar
DAXX_chr6_33313558_33327959	33318792	GCCACACT others(27): Show GCCACACTTGTCTGCAGGGAAGTGAGAGACAAAGA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19085.hp1 NA19085.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0026 a0006c0011t0001g0026	1	375	0.0027	-34	c.216 others(46): Show c.2164-24_2173delTCTTTGTCTCTCACTTCCCTGCAGACAAGTGTG G	p.Thr others(5): Show p.Thr722fs	DAXX	ENSG00000204209.13	transcript	ENST00000374542.10	protein_coding	8/8	2323/2558	2164/2223	722/740		chr6	TogoVar
DAXX_chr6_33313558_33327959	33320729	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02109.hp1 HG02145.hp1 others(10): Show HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	13	375	0.0347	0	c.103 others(6): Show c.1039+7G>T		DAXX	ENSG00000204209.13	transcript	ENST00000374542.10	protein_coding	3/7					chr6	TogoVar
DAZ2_chrY_23214533_23296356	23247631	GGAGAGTA others(2365): Show GGAGAGTATTACCTCCAACTCACCGGAGCTGCTTTCCCCCTTATAAGCAG TTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATT CTTCGGTAAGTTTAGCAGTTTATCTAGCTATCCTTTATTTGAAATGATTG CCACATGCCTCCTCATATAAATGGCTGACTTCTGGATATATTCTGGTTCT GGAATGGGCAGATTTCTGACGTGGTTTAGTATATATATATAAACCCGGTG AGTTTCTGGCATGTAATTTCTCTGATCGTGGTTACATTGATATTTAAAGT AGGGTTTGACATAGTGTGTCACTTACTGTTGATAAATATCGTTTATTTTC TTCTTAGTTCATTTCATTGATGTGTTAGCTTAAAAGACATTTTCTTTGAC AGAAAATGAAGTAATGAAATAATAGTGAAATCGTTCTGCTGTGTCTCTAA TTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTATACCTCTTCTT TTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCCCTACTTGTTTCTCTCG TTTACTGTGAGGCATTAGTGATTCTGGGTGTATTCATGTATGCTGCTAAC TGTATGTTTTCAAACAATAAGAATTTGTTGAAACATGTCAGACATTATAC TTTTTATTCTCCAGTATTGGAATATAGACTGCAATTAGTTTTTTGGAATG AAATACAGACAAAGCCATAACATCTATAGAACTACATATTACCCTACAAT ATTGTCTGATACAAAACAGTCTGGAAATATTCTTACAGCGAAATTGCAAA TGTATTGATTTACCTTACATTGCAATCTGTCTTAGTGGAACCTTATCACC AGTGTAAGACATAATTTCTGGGTGTGAATAAGTACACAGTATAAGGTAAA TTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTTCCCCCTTCACACCCAA AGTGTAGCACTTGACATAGAATCTTTCTTTCCTCATAAAGTCATTCATTT GGAATTCTGCATTGTTGTATGTAGAAAAAGGATATTTTCCGTTTTGTAAT ATTTTTCTTATATTGGGAATTATATTTCTTTCTAATTTTAAAATGTGGTT TACCATATTCATTTTTTCTGCAACCTTTTCAGGCATTTCCTGCTTATCCA AATTCACCAGTTCAGGTCACCACTGGATATCAGTTGCCTGTATACAATTA TCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCTTTCAGGTATTATTGAG GCCTTTAACTTGTTTATAGAAATTTCCTGAATAGTTGGTCATTTTTAACT AGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTAGTGTAGAATGAAGACC TCTGTCTTATTTAGAAGTAATGAAGTAATATTTTTACAGGAATATCCTTG GCAATAACATTTGTGTAGAAGAGATTTCTGAGATTTGGTGTCCCCTTCTT CATTTGTGGATATAGTTTTCATCTTTGCTGTCAAATAGCTGAATGAAACA TCCAAACTGACTTTCATGAATTTTTTTAGGGAGATAGAGTGAAATAAAAT TATGATCCACTTTTCAGAGCACAGAATTCCAATTATATTTTCATTTTAGC TGGCTGTTTGACGGTAGTCATTCTCAGGATCTCTTCTCATAGATACAAGT ATATCTATGACCCATAACTATATCTATGGTAATAAACTGAAAGAGCTAGT ATTTTTGAGGTTTCCACATTGCCAACTCCCAAAAATTTGGAGAAAGGTGA AGATTCAAATTTAAAGTAACAAGAATGTCATGGACAAGAAACATAAAGTA CTTAAGTTTTCCTTTCTGTTACTTTTATTATAATAAAAAAGGAGACAGCG GAATAAGTACTTCAATACTGTGTTTCTCATGTGTGTTTGAAAATATGTAG GAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTTTTTTTTTTTTTAAAGA TGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGATTATGTTGTCCTTGAC GTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTGATTTTTTT CCATGTCCTATATGCCTATAAATATTTTTAAGTGATTCTTTATATTAATT TTTTTGTCGTTGTTACTTTCTTGTTAACCCGATTATGAACTCCCATGGGA GCAAGAGTGCCTTTTTTGCCCTCAGGTTTTTATGTGCCTAAGCAATGGCA GGTCCACATAATGATAGACTATATAATCACAGAAAAGTAGTATTCACTTG ACTTTAGAATTATCACGTATCTGCCAATAATCTGCCTCTGGCTTTACCAG CAATAGAAAATTTATAGAAGAGAAACAGAATTGCTTTGCTGTTAATGACG CTTAAATAAGAACAGGAGTGAAC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01243.hp1 HG01261.hp1 others(5): Show HG00738.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01934.hp1 HG03139.hp1 HG03579.hp1 NA20752.hp1	a0003 a0010 a0013 a0003 a0010 a0013	a0003c0003 a0010c0009 a0013c0012 a0003c0003 a0010c0009 a0013c0012	a0003c0003t0001 a0010c0009t0001 a0013c0012t0001 a0003c0003t0001 a0010c0009t0001 a0013c0012t0001	a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 others(5): Show a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0046 a0010c0009t0001g0018 a0013c0012t0001g0036	8	54	0.1482	-2372	c.107 others(19): Show c.1075-1114_1147-1125del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	15/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ2_chrY_23214533_23296356	23248754	C C	CCTTT CCTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp1 HG03710.hp1 HG01099.hp1 HG03710.hp1	a0004 a0004	a0004c0006 a0004c0008 a0004c0006 a0004c0008	a0004c0006t0001 a0004c0008t0001 a0004c0006t0001 a0004c0008t0001	a0004c0006t0001g0027 a0004c0008t0001g0017 a0004c0006t0001g0027 a0004c0008t0001g0017	2	54	0.0370	4	c.107 others(17): Show c.1075-8_1075-5dupCTTT		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	14/27				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ2_chrY_23214533_23296356	23248763	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01099.hp1 HG03710.hp1 HG01099.hp1 HG03710.hp1	a0004 a0004	a0004c0006 a0004c0008 a0004c0006 a0004c0008	a0004c0006t0001 a0004c0008t0001 a0004c0006t0001 a0004c0008t0001	a0004c0006t0001g0027 a0004c0008t0001g0017 a0004c0006t0001g0027 a0004c0008t0001g0017	2	54	0.0370	0	c.107 others(4): Show c.1075G>C	p.Ala others(6): Show p.Ala359Pro	DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	15/28	1283/4065	1075/1965	359/654		chrY	TogoVar
DAZ2_chrY_23214533_23296356	23273519	CTAGAAAC others(2377): Show CTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTTACTTGTATTATAAT AAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTGTGTTTCTCATGTGT TTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGGTTTCCTTTTTTTTT TTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGGAGCAAAGGGATTATG TTTTCCTTGATGTTAAGTGAATTAGCCAAACATAGACTTCCTGTTCATTC TTGGTTTTTTTCCACGTCGTATATGCCTATTACTATTTTTAAGTGATTTT TATATCAATGTTTTAGTTTATTTTTTTACTTTCTTGTTAACCCGATTATA AACTCCCATGGGAGCAACAGTGCCTTTTTTGCCCTGAGGTTTTTATTTGC TTAAGCAATGGCAGGTCCACTTAATGATAGACCATATCATCAAAGAAAGG TAGTATTCATGTGGCTTTTGAATTAGCATGCATCTGCGTAGATTCTGCCT CTGGCTTTACCAGCAACAGAAAATTTGTAGAACAGAGACAGAAATGCTTT GCTGTTAATTGCGCTTAAATAAGAATAGGAGTAAACGAGAGTATTACCTC CAAAGCACCAGAGCTGCTTTCCTCCTTATAACCAGTTCCTAAAGTGAATG AAAGCAGCTCTCCTTATGTGTCTGCCTACTTCATTCTTCGGTAAGTTTAA CAGTTCATCTAGCTACCCTTTATTTGAAATGATTTCCAGATGCCTCCTCA TATAAATTGCTGACTTCTGGATATATTCTGGTTCGGGAATGGGTAGATTT CTGATGTGGTTTAGTAGGTATATAAATCCCGTGAGCTTCTTGCATCTAAT TTCTCTGATCCTGCTTACACTGATATTTAAAGTAGGTTTTGACATACTCC ATCACTTAATGTTGATAAAGGACGTTTATATTCTTCTTAGTTCGTTTTAT TTATGTGTTAGCTTTAAAGACATTTTCTTTGACGGAAAGTGAAGTAACAA AATAATAGTCGAATAGTTCTGCCGTGTCTCTAATTTGTTGATATTTTCCA TGTACTTGAAACATGTATGGTACACCTCTTCTTTTTCCTTCTCTGAACAA TGGCTAGAAAAAAAACCCTACTTCTTTCTGTCATTTACTGTGAGGCATTA CTGAATCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTCAAACAA TAAGAATTCATTGAAACATATAAGACATTATACTTTCTCTTCTCCAGTAT TGGATTATAGACTGCACTTAGTTTTCCGGAATGAAGTACAGACAAAGCCA TAACGCGTGTACAACTACACATTGTCCTATAATATTGTCTGATAAAAAAC AGTGTAGAAATATTCTGACAGGGAAATAGCAAATGTATTAATTTAACTTA CCTTGCAATCTCTCTTAATGGAGCCTTATCACCAGTGTAAGAAATAACGT CTGGGTGTGAATACGTACACAGTATAAGGTAAACTTTGGTGAAGTCGTCA ATTCTTTTGTCATTTCTTCCCCCTTCACACCCAAAGTGTAGCACTTGACA TGGAATCTTTCTTTCTTCATAAATCAGTCATTCATTTGGAATTCTGCATT GTTGTATGTAGAAAAACGATATTTTCCCTTCTGTAATATTGTTGTTATAT TGGGAATTATATTTCTTTGTAATTTTAAAAAGTGGTTTACCATATTCATT TTTTTCTGCCAACCTTTCTTTTCAGGCATTTCCTGCTTATCCAAGTTCAC CATTTCAGGTCACCACTGGATATCAGTTGCCTGTATATAATTATCAGGTA ATGTAAGAAGGAGTAAAATTATTTGCTTTCAGGTATTATTGAGGCCTTTA ACTTGTTTATACAAATTTCCGGAATAGTTGGTCATTTTAAACTAGTGAAG TGTACCTAAAATTTAAGGAAACACTTAGAATTAGTGTAGAAGGAAGACCT CTGTCTTATTGAGAAGTAATGAAGTCGAATTTTGACAGGAATATACTTGG GAATAACTTTCCTGTAGAACAGATTTCTGAGATTTGGTGTCCCATTCTTC ATTTCTGGATGTAGTTTTCATCTTTACTGTCAAATAACTGAATGAAACAT CCAAACTGACTTTCATGAATTTTCTTAGGGAGATAGAGTGAAATAAAATT ATGACCCACTTTGCAGAGCACAGAATTCCAACTATATTTTCATTTTAGCT GGCTGTTTCACGATAGCAATTCTCTGGGTCTCTTTTCACAGATACAAGTA CATCTATGCCCAATAATTATATCTATGGTAATAAACTGAAAGAGCTAGTA TCTTTGAGGTTTCCACATTGCCAACTCCCGAAAATGTGGAGAAGGGTGAA GTTTCTAATATAAAAGTAACAAGAATGTCATGGAG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0031 a0005c0005t0001g0031	1	54	0.0185	-2384	c.165 others(17): Show c.1651-747_1723-748del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	23/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ2_chrY_23214533_23296356	23274497	TTGACGGA others(2377): Show TTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCTGCCGTGTC TCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTACACCTC TTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTACTTCTTTC TGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCATGTATGCTG CTACCTGTATGTTTTCAAACAATAAGAATTCATTGAAACATATAAGACAT TATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTAGTTTTCCG GAATGAAGTACAGACAAAGCCATAACGCGTGTACAACTACACATTGTCCT ATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACAGGGAAATA GCAAATGTATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTA TCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACACAGTATAAG GTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCCCCCTTCAC ACCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCATAAATCAGT CATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGATATTTTCCC TTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGTAATTTTAA AAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTTTTCAGGCA TTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGATATCAGTT GCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATTATTTGCTT TCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCCGGAATAGT TGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAAACACTTAG AATTAGTGTAGAAGGAAGACCTCTGTCTTATTGAGAAGTAATGAAGTCGA ATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAACAGATTTCT GAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCATCTTTACT GTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAATTTTCTTAG GGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAGCACAGAATTC CAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAATTCTCTGGG TCTCTTTTCACAGATACAAGTACATCTATGCCCAATAATTATATCTATGG TAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTGCCAACTCC CGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAACAAGAATGT CATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTTACTTGTAT TATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTGTGTTTCTC ATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGGTTTCCTTT TTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGGAGCAAAGGG ATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAGACTTCCTGT TCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTATTTTTAAGT GATTTTTATATCAATGTTTTAGTTTATTTTTTTACTTTCTTGTTAACCCG ATTATAAACTCCCATGGGAGCAACAGTGCCTTTTTTGCCCTGAGGTTTTT ATTTGCTTAAGCAATGGCAGGTCCACTTAATGATAGACCATATCATCAAA GAAAGGTAGTATTCATGTGGCTTTTGAATTAGCATGCATCTGCGTAGATT CTGCCTCTGGCTTTACCAGCAACAGAAAATTTGTAGAACAGAGACAGAAA TGCTTTGCTGTTAATTGCGCTTAAATAAGAATAGGAGTAAACGAGAGTAT TACCTCCAAAGCACCAGAGCTGCTTTCCTCCTTATAACCAGTTCCTAAAG TGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTCATTCTTCGGTAA GTTTAACAGTTCATCTAGCTACCCTTTATTTGAAATGATTTCCAGATGCC TCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCGGGAATGGGT AGATTTCTGATGTGGTTTAGTAGGTATATAAATCCCGTGAGCTTCTTGCA TCTAATTTCTCTGATCCTGCTTACACTGATATTTAAAGTAGGTTTTGACA TACTCCATCACTTAATGTTGATAAAGGACGTTTATATTCTTCTTAGTTCG TTTTATTTATGTGTTAGCTTTAAAGACATTTTCTG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03688.hp1 HG03688.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0050 a0005c0005t0001g0050	1	54	0.0185	-2384	c.165 others(17): Show c.1651-196_1723-197del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	23/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ3_chrY_24758069_24818393	24793721	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03017.hp1 NA18962.hp1 HG03017.hp1 NA18962.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0013 a0006c0005t0001g0023 a0006c0005t0001g0013 a0006c0005t0001g0023	2	45	0.0444	0	c.787 others(3): Show c.787G>C	p.Ala others(6): Show p.Ala263Pro	DAZ3	ENSG00000187191.16	transcript	ENST00000382365.7	protein_coding	11/19	995/3417	787/1317	263/438		chrY	TogoVar
DAZ3_chrY_24758069_24818393	24793725	A A	AAAAG AAAAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03017.hp1 NA18962.hp1 HG03017.hp1 NA18962.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0013 a0006c0005t0001g0023 a0006c0005t0001g0013 a0006c0005t0001g0023	2	45	0.0444	4	c.787 others(15): Show c.787-8_787-5dupCTTT		DAZ3	ENSG00000187191.16	transcript	ENST00000382365.7	protein_coding	10/18					chrY	TogoVar
DAZ4_chrY_24828919_24912040	24869210	C C	CCTTT CCTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02717.hp1	a0013 a0013	a0013c0007 a0013c0007	a0013c0007t0001 a0013c0007t0001	a0013c0007t0001g0002 a0013c0007t0001g0002	1	41	0.0244	4	c.142 others(17): Show c.1426-8_1426-5dupCTTT		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	17/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24869219	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0013 a0013	a0013c0007 a0013c0007	a0013c0007t0001 a0013c0007t0001	a0013c0007t0001g0002 a0013c0007t0001g0002	1	41	0.0244	0	c.142 others(4): Show c.1426G>C	p.Ala others(6): Show p.Ala476Pro	DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	18/29	1634/4272	1426/2172	476/723		chrY	TogoVar
DAZ4_chrY_24828919_24912040	24881957	CTCCCTGA others(2378): Show CTCCCTGACCGCTTGCGCGTCCCAAGTGAGGCAATGCCTCGCCCTGCTTC CGCTCGCACGCGGTGAGCCCACCCACTGACCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCC GTCTTCGGCGTCGCTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATT CGGCCATCTTGGCTCCTCCCCCACCCCCCTTTTTTTTTCAAGATGCCACC ATAGGGGCCTGTTGGGGAGCAAAGGGATTATGTTTTCCTTGATGTTAAGT GAATTAGCCAAACATAGACTTCCTGTTCATTCTTGGTTTTTTTCCACGTC GTATATGCCTATTACTATTTTTAAGTGATTTTTATATCAATGTTTTAGTT TACTTTTTTACTTTCTTGTTAACCCGATTATAAACTCCCATGGGAGCAAC AGTGCCTTTTTTGCCCTGAGGTTTTTATTTGCTTAAGCAATGGCAGGTCC ACTTAATGATAGACCATATCATCAAAGAAAGGTAGTATTCATGTGGCTTT TGAATTAGCATGCATCTGCGTAGATTCTGCCTCTGGCTTTACCAGCAACA GAAAATTTGTAGAACAGAGACAGAAATGCTTTGCTGTTAATTGCGCTTAA ATAAGAATAGGAGTAAACGAGAGTATTACCTCCAAAGCACCAGAGCTGCT TTCCTCCTTATAACCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATG TGTCTGCCTACTTCATTCTTCGGTAAGTTTAACAGTTCATCTAGCTACCC TTTATTTGAAATGATTTCCAGATGCCTCCTCATATAAATTGCTGACTTCT GGATATATTCTGGTTCGGGAATGGGTAGATTTCTGATGTGGTTTAGTAGG TATATAAATCCCGTGAGCTTCTTGCATCTAATTTCTCTGATCCTGCTTAC ACTGATATTTAAAGTAGGTTTTGACATACTCCATCACTTAATGTTGATAA AGGATGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAA GACATTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTT CTGCCGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTAT GGTACACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCC TACTTCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTC ATGTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTATTGAAACA TATAAGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACT TAGTTTTCCGGAATGAAGTACAGACAAAGCCATAACGCATGTACAACTAC ACATTGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGA CAGGGAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAA TGGAGCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTAC ACAGTATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTT CCCCCTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTC ATAAATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACG ATATTTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTT GTAATTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTC TTTTCAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTG GATATCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAA TTATTTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTT CCGGAATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGG AAACACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTA ATGAAGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGA ACAGATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTT CATCTTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGA ATTTTCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAG CACAGAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCA ATTCTCTGGGTCTCTTTTCACAGATACAAGTATAACTATGCCCAATAATT ATATCTATGGTAATAAACTGAAAGAGCTAGTATCTT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0003	1	41	0.0244	-2385	c.164 others(18): Show c.1642-1805_1713+508del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	21/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24882359	CTTTTTTA others(2378): Show CTTTTTTACTTTCTTGTTAACCCGATTATAAACTCCCATGGGAGCAACAG TGCCTTTTTTGCCCTGAGGTTTTTATTTGCTTAAGCAATGGCAGGTCCAC TTAATGATAGACCATATCATCAAAGAAAGGTAGTATTCATGTGGCTTTTG AATTAGCATGCATCTGCGTAGATTCTGCCTCTGGCTTTACCAGCAACAGA AAATTTGTAGAACAGAGACAGAAATGCTTTGCTGTTAATTGCGCTTAAAT AAGAATAGGAGTAAACGAGAGTATTACCTCCAAAGCACCAGAGCTGCTTT CCTCCTTATAACCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTG TCTGCCTACTTCATTCTTCGGTAAGTTTAACAGTTCATCTAGCTACCCTT TATTTGAAATGATTTCCAGATGCCTCCTCATATAAATTGCTGACTTCTGG ATATATTCTGGTTCGGGAATGGGTAGATTTCTGATGTGGTTTAGTAGGTA TATAAATCCCGTGAGCTTCTTGCATCTAATTTCTCTGATCCTGCTTACAC TGATATTTAAAGTAGGTTTTGACATACTCCATCACTTAATGTTGATAAAG GATGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAAGA CATTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCT GCCGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGG TACACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTA CTTCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCAT GTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTATTGAAACATA TAAGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTA GTTTTCCGGAATGAAGTACAGACAAAGCCATAACGCATGTACAACTACAC ATTGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACA GGGAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAATG GAGCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACAC AGTATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCC CCCTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCAT AAATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGAT ATTTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGT AATTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTT TTCAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGA TATCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATT ATTTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCC GGAATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAA ACACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTAAT GAAGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAAC AGATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCA TCTTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAAT TTTCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAGCA CAGAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAAT TCTCTGGGTCTCTTTTCACAGATACAAGTATAACTATGCCCAATAATTAT ATCTATGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTG CCAACTCCCGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAAG AAGAATGTCATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTT ACTTGTATTATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTG TGTTTCTCATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGG TTTCCTTTCTTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGG AGCAAAGGGATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAG ACTTCCTGTTCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTA TTTTTAAGTGATTTTTATATCAATGTTTTAGTTTAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01192.hp1 HG01243.hp1 others(6): Show HG00738.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01515.hp1 HG01943.hp1 HG02074.hp1 HG03688.hp1 HG04199.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0003 a0003c0004 a0004c0003	a0003c0004t0001 a0004c0003t0001 a0003c0004t0001 a0004c0003t0001	a0003c0004t0001g0004 a0003c0004t0001g0017 a0003c0004t0001g0018 others(6): Show a0003c0004t0001g0004 a0003c0004t0001g0017 a0003c0004t0001g0018 a0003c0004t0001g0039 a0004c0003t0001g0010 a0004c0003t0001g0011 a0004c0003t0001g0013 a0004c0003t0001g0014 a0004c0003t0001g0015	9	41	0.2195	-2385	c.164 others(17): Show c.1642-803_1714-804del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	21/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24885346	CGTTTATA others(2378): Show CGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAAGACA TTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCTGC CGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTA CACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTACT TCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCATGT ATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTCATTGAAACATATA AGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTAGT TTTCCGGAATGAAGTACAGACAAAGCCATAACGCGTGTACAACTACACAT TGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACAGG GAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAATGGA GCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACACAG TATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCCCC CTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCATAA ATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGATAT TTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGTAA TTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTTTT CAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGATA TCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATTAT TTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCCGG AATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAAAC ACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTAATGA AGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAACAG ATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCATC TTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAATTT TCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTTCAGAGCACA GAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAATTC TCTGGGTCTCTTTTCACAGATACAAGTACATCTATGCCCAATAATTATAT CTATGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTGCC AACTCCCGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAAGAA GAATGTCATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTTAC TTGTATTATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTGTG TTTCTCATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGGTT TCCTTTTTTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGGAG CAAAGGGATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAGAC TTCCTGTTCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTATT TTTAAGTGATTTTTATATCAATGTTTTAGTTTATTTTTTTACTTTCTTGT TAACCCGATTATAAACTCCCATGGGAGCAACAGTGCCTTTTTTGCCCTGA GGTTTTTATTTGCTTAAGCAATGGCAGGTCCACTTAATGATAGACCATAT CATCAAAGAAAGGTAGTATTCATGTGGCTTTTGAATTAGCATGCATCTGC GTAGATTCTGCCTCTGGCTTTACCAGCAACAGAAAATTTGTAGAACAGAG ACAGAAATGCTTTGCTGTTAATTGCGCTTAAATAAGAATAGGAGTAAACG AGAGTATTACCTCCAAAGCACCAGAGCTGCTTTCCTCCTTATAACCAGTT CCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTCATTCT TCGGTAAGTTTAACAGTTCATCTAGCTACCCTTTATTTGAAATGATTTCC AGATGCCTCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCGGG AATGGGTAGATTTCTGATGTGGTTTAGTAGGTATATAAATCCCGTGAGCT TCTTGCATCTAATTTCTCTGATCCTGCTTACACTGATATTTAAAGTAGGT TTTGACATACTCCATCACTTAATGTTGATAAAGGAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02735.hp1 NA20805.hp1 HG02735.hp1 NA20805.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0003 a0003c0004 a0004c0003	a0003c0004t0001 a0004c0003t0001 a0003c0004t0001 a0004c0003t0001	a0003c0004t0001g0006 a0004c0003t0001g0005 a0003c0004t0001g0006 a0004c0003t0001g0005	2	41	0.0488	-2385	c.171 others(17): Show c.1714-312_1786-313del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	22/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZAP1_chr19_1402586_1440684	1432507	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	374	0.0027	0	c.872 others(5): Show c.872-7T>G		DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	10/11					chr19	TogoVar
DAZL_chr3_16581792_16610423	16594586	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00544.hp1 HG00642.hp1 others(75): Show HG00408.hp1 HG00544.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02559.hp1 HG02630.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18946.hp2 NA18953.hp2 NA18965.hp2 NA18982.hp1 NA18986.hp1 NA18991.hp1 NA18999.hp2 NA19000.hp1 NA19011.hp1 NA19030.hp1 NA19070.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19087.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0025 others(32): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0127 a0001c0001t0013g0057 a0001c0001t0015g0061 a0001c0001t0017g0090 a0001c0003t0001g0011 a0001c0003t0001g0018 a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0029 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0048 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133	78	446	0.1749	-1	c.571 others(6): Show c.571-4delT		DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding	7/10					chr3	TogoVar
DBF4B_chr17_44703665_44757264	44708845	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00621.hp2 HG00639.hp1 others(49): Show HG00323.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02559.hp2 HG02615.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp2 HG03654.hp2 NA18747.hp2 NA18944.hp2 NA18952.hp1 NA18965.hp1 NA18984.hp2 NA19063.hp1 NA19063.hp2 NA19090.hp1 NA20129.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0006c0008 a0001c0001 a0003c0004 a0006c0008	a0001c0001t0002 a0003c0004t0002 a0006c0008t0002 a0001c0001t0002 a0003c0004t0002 a0006c0008t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(49): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0003c0004t0002g0003 a0003c0004t0002g0005 a0006c0008t0002g0030	52	288	0.1806	0	c.19+ others(4): Show c.19+6G>C		DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	1/13					chr17	TogoVar
DBF4B_chr17_44703665_44757264	44723030	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	288	0.0035	0	c.225 others(5): Show c.225+8A>G		DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13					chr17	TogoVar
DBF4B_chr17_44703665_44757264	44734171	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0100 a0001c0005t0001g0100	1	288	0.0035	0	c.630 others(5): Show c.630+8A>C		DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	7/13					chr17	TogoVar
DBF4_chr7_87871493_87914553	87876781	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	292	0.0034	0	c.46+ others(4): Show c.46+3A>G		DBF4	ENSG00000006634.8	transcript	ENST00000265728.6	protein_coding	1/11					chr7	TogoVar
DBF4_chr7_87871493_87914553	87900215	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18975.hp2 NA18975.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0014 a0009c0008t0014	a0009c0008t0014g0054 a0009c0008t0014g0054	1	292	0.0034	0	c.681 others(5): Show c.681-6T>A		DBF4	ENSG00000006634.8	transcript	ENST00000265728.6	protein_coding	8/11					chr7	TogoVar
DBF4_chr7_87871493_87914553	87900218	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18975.hp2 NA18975.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0014 a0009c0008t0014	a0009c0008t0014g0054 a0009c0008t0014g0054	1	292	0.0034	0	c.681 others(5): Show c.681-3T>A		DBF4	ENSG00000006634.8	transcript	ENST00000265728.6	protein_coding	8/11					chr7	TogoVar
DBF4_chr7_87871493_87914553	87900222	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18975.hp2 NA18975.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0014 a0009c0008t0014	a0009c0008t0014g0054 a0009c0008t0014g0054	1	292	0.0034	0	c.682 others(3): Show c.682C>A	p.Leu others(6): Show p.Leu228Ile	DBF4	ENSG00000006634.8	transcript	ENST00000265728.6	protein_coding	9/12	922/3655	682/2025	228/674		chr7	TogoVar
DBH_chr9_133631363_133664329	133639992	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(154): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp2 NA18959.hp2 NA18963.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19082.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0013 a0014 a0015	a0001c0004 a0001c0005 a0001c0017 others(19): Show a0001c0004 a0001c0005 a0001c0017 a0002c0003 a0002c0006 a0002c0030 a0002c0031 a0003c0007 a0003c0008 a0003c0011 a0003c0013 a0003c0019 a0004c0010 a0004c0012 a0004c0032 a0005c0015 a0007c0018 a0008c0016 a0009c0034 a0013c0033 a0014c0028 a0015c0029	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(43): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0007 a0001c0004t0013 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0017t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0009 a0002c0006t0010 a0002c0030t0006 a0002c0031t0001 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0003c0007t0007 a0003c0008t0001 a0003c0008t0002 a0003c0008t0004 a0003c0011t0002 a0003c0011t0003 a0003c0013t0001 a0003c0019t0002 a0004c0010t0001 a0004c0010t0003 a0004c0012t0002 a0004c0032t0012 a0005c0015t0001 a0005c0015t0002 a0007c0018t0001 a0008c0016t0003 a0009c0034t0011 a0013c0033t0001 a0014c0028t0004 a0015c0029t0001	a0001c0004t0001g0005 a0001c0004t0001g0011 a0001c0004t0001g0019 others(135): Show a0001c0004t0001g0005 a0001c0004t0001g0011 a0001c0004t0001g0019 a0001c0004t0001g0027 a0001c0004t0001g0044 a0001c0004t0001g0067 a0001c0004t0001g0074 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0079 a0001c0004t0001g0081 a0001c0004t0001g0166 a0001c0004t0001g0201 a0001c0004t0002g0017 a0001c0004t0002g0048 a0001c0004t0002g0049 a0001c0004t0002g0052 a0001c0004t0002g0092 a0001c0004t0002g0200 a0001c0004t0002g0202 a0001c0004t0002g0309 a0001c0004t0003g0051 a0001c0004t0003g0066 a0001c0004t0007g0047 a0001c0004t0013g0199 a0001c0005t0001g0046 a0001c0005t0001g0050 a0001c0005t0001g0063 a0001c0005t0001g0103 a0001c0005t0001g0114 a0001c0005t0001g0117 a0001c0005t0001g0118 a0001c0005t0001g0121 a0001c0005t0001g0123 a0001c0005t0001g0168 a0001c0005t0001g0173 a0001c0005t0001g0195 a0001c0005t0001g0198 a0001c0005t0002g0043 a0001c0005t0002g0075 a0001c0005t0002g0078 a0001c0005t0002g0104 a0001c0005t0002g0105 a0001c0005t0002g0106 a0001c0005t0002g0122 a0001c0005t0002g0284 a0001c0005t0003g0018 a0001c0005t0003g0065 a0001c0005t0004g0072 a0001c0005t0005g0042 a0001c0005t0005g0045 a0001c0017t0002g0022 a0002c0003t0001g0008 a0002c0003t0001g0013 a0002c0003t0001g0053 a0002c0003t0001g0056 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0091 a0002c0003t0001g0102 a0002c0003t0001g0111 a0002c0003t0001g0120 a0002c0003t0001g0185 a0002c0003t0001g0188 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0196 a0002c0003t0002g0029 a0002c0003t0002g0178 a0002c0003t0002g0180 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0197 a0002c0003t0002g0203 a0002c0003t0003g0062 a0002c0003t0003g0192 a0002c0003t0004g0030 a0002c0003t0004g0172 a0002c0003t0004g0181 a0002c0003t0004g0183 a0002c0003t0005g0184 a0002c0006t0001g0170 a0002c0006t0001g0175 a0002c0006t0002g0055 a0002c0006t0002g0057 a0002c0006t0002g0112 a0002c0006t0003g0167 a0002c0006t0003g0179 a0002c0006t0003g0182 a0002c0006t0009g0028 a0002c0006t0010g0191 a0002c0030t0006g0068 a0002c0031t0001g0054 a0003c0007t0001g0082 a0003c0007t0001g0085 a0003c0007t0001g0107 a0003c0007t0001g0115 a0003c0007t0002g0083 a0003c0007t0002g0086 a0003c0007t0003g0109 a0003c0007t0003g0119 a0003c0007t0007g0088 a0003c0008t0001g0020 a0003c0008t0001g0084 a0003c0008t0001g0087 a0003c0008t0001g0116 a0003c0008t0002g0089 a0003c0008t0004g0108 a0003c0011t0002g0021 a0003c0011t0002g0096 a0003c0011t0002g0099 a0003c0011t0003g0098 a0003c0013t0001g0126 a0003c0013t0001g0127 a0003c0013t0001g0128 a0003c0019t0002g0095 a0003c0019t0002g0097 a0004c0010t0001g0071 a0004c0010t0001g0090 a0004c0010t0001g0101 a0004c0010t0001g0113 a0004c0010t0003g0100 a0004c0012t0002g0069 a0004c0012t0002g0070 a0004c0012t0002g0124 a0004c0032t0012g0093 a0005c0015t0001g0125 a0005c0015t0002g0064 a0007c0018t0001g0005 a0007c0018t0001g0073 a0008c0016t0003g0171 a0008c0016t0003g0176 a0009c0034t0011g0288 a0013c0033t0001g0080 a0014c0028t0004g0190 a0015c0029t0001g0189	157	402	0.3906	0	c.486 others(3): Show c.486A>G	p.Glu others(6): Show p.Glu162Glu	DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	2/12	495/2745	486/1854	162/617		chr9	TogoVar
DBH_chr9_133631363_133664329	133642472	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp2 HG01070.hp2 others(2): Show HG00280.hp1 HG00323.hp2 HG01070.hp2 HG01081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0163 a0001c0002t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0163 a0001c0002t0001g0025	5	402	0.0124	0	c.744 others(5): Show c.744+8C>T		DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	3/11					chr9	TogoVar
DBH_chr9_133631363_133664329	133644326	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG01081.hp2 HG01106.hp1 others(40): Show HG00733.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA18946.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0001c0004 a0001c0005 others(6): Show a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0002c0030 a0004c0010 a0004c0012 a0004c0032 a0005c0015	a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 others(13): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0013 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0017t0002 a0002c0030t0006 a0004c0010t0001 a0004c0010t0003 a0004c0012t0002 a0004c0032t0012 a0005c0015t0001 a0005c0015t0002	a0001c0002t0002g0293 a0001c0004t0001g0027 a0001c0004t0001g0044 others(37): Show a0001c0002t0002g0293 a0001c0004t0001g0027 a0001c0004t0001g0044 a0001c0004t0001g0201 a0001c0004t0002g0017 a0001c0004t0002g0048 a0001c0004t0002g0049 a0001c0004t0002g0052 a0001c0004t0002g0092 a0001c0004t0002g0200 a0001c0004t0002g0202 a0001c0004t0003g0051 a0001c0004t0013g0199 a0001c0005t0001g0046 a0001c0005t0001g0050 a0001c0005t0001g0103 a0001c0005t0001g0117 a0001c0005t0001g0118 a0001c0005t0001g0173 a0001c0005t0001g0198 a0001c0005t0002g0043 a0001c0005t0002g0104 a0001c0005t0002g0105 a0001c0005t0002g0106 a0001c0005t0002g0122 a0001c0005t0005g0042 a0001c0005t0005g0045 a0001c0017t0002g0022 a0002c0030t0006g0068 a0004c0010t0001g0071 a0004c0010t0001g0090 a0004c0010t0001g0101 a0004c0010t0001g0113 a0004c0010t0003g0100 a0004c0012t0002g0069 a0004c0012t0002g0070 a0004c0012t0002g0124 a0004c0032t0012g0093 a0005c0015t0001g0125 a0005c0015t0002g0064	43	402	0.1070	0	c.102 others(6): Show c.1024+6C>G		DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	5/11					chr9	TogoVar
DBH_chr9_133631363_133664329	133657065	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(120): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG03017.hp2 HG03130.hp1 HG03453.hp1 HG03710.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19074.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0013 a0015 a0017	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0024 a0002c0003 a0002c0006 a0002c0009 a0003c0007 a0006c0014 a0013c0033 a0015c0029 a0017c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0024t0001 a0002c0003t0001 a0002c0003t0003 a0002c0006t0001 a0002c0009t0001 a0003c0007t0001 a0006c0014t0001 a0013c0033t0001 a0015c0029t0001 a0017c0035t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0002g0305 a0001c0001t0003g0165 a0001c0002t0001g0025 a0001c0002t0001g0147 a0001c0002t0001g0157 a0001c0002t0001g0236 a0001c0002t0001g0251 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0294 a0001c0004t0001g0027 a0001c0004t0001g0201 a0001c0005t0001g0050 a0001c0005t0001g0195 a0001c0005t0001g0198 a0001c0024t0001g0232 a0002c0003t0001g0008 a0002c0003t0001g0013 a0002c0003t0001g0185 a0002c0003t0001g0188 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0196 a0002c0003t0003g0192 a0002c0006t0001g0170 a0002c0009t0001g0013 a0002c0009t0001g0177 a0003c0007t0001g0115 a0006c0014t0001g0003 a0006c0014t0001g0162 a0013c0033t0001g0080 a0015c0029t0001g0189 a0017c0035t0001g0012	123	402	0.3060	0	c.156 others(6): Show c.1563-5A>G		DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	10/11					chr9	TogoVar
DBH_chr9_133631363_133664329	133657233	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG03041.hp1 HG02615.hp2 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0110 a0003c0007t0001g0085 a0001c0001t0001g0110 a0003c0007t0001g0085	2	402	0.0050	0	c.172 others(6): Show c.1722+4C>T		DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	11/11					chr9	TogoVar
DBN1_chr5_177451610_177478634	177458054	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02818.hp2 HG02896.hp1 others(1): Show HG02572.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	4	346	0.0116	0	c.191 others(6): Show c.1914+4C>T		DBN1	ENSG00000113758.14	transcript	ENST00000393565.6	protein_coding	13/14					chr5	TogoVar
DBN1_chr5_177451610_177478634	177459746	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02622.hp1 HG02723.hp2 HG01891.hp2 HG02622.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230	3	346	0.0087	0	c.956 others(5): Show c.956-6C>T		DBN1	ENSG00000113758.14	transcript	ENST00000393565.6	protein_coding	10/14					chr5	TogoVar

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