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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Select column to sort.

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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
DCHS2_chr4_154226742_154496799	154242632	TCA TCA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0003 a0004c0004t0004g0004 a0004c0004t0004g0003 a0004c0004t0004g0004	2	192	0.0104	-2	c.707 others(15): Show c.7072+8_7072+9delTG		DCHS2	ENSG00000197410.14	transcript	ENST00000357232.10	protein_coding	17/19					chr4	TogoVar
DCLK2_chr4_150073445_150262438	150247556	T T	TCTACGGT others(41): Show TCTACGGTGACTTTGACTTTTCTTCCATTTCTTTGTCACTGGCTTAGTG	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	116	0.0086	48	c.177 others(60): Show c.1779-46_1780dupCTACGGTGACTTTGACTTTTCTTCCATTTCTTT GTCACTGGCTTAGTG	p.Ser others(61): Show p.Ser593_Glu594insAlaThrValThrLeuThrPheLeuProPheLe uCysHisTrpLeuSer	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	13/16	2364/4075	1781/2301	594/766	INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150249563	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02809.hp2 HG01884.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0083 a0001c0001t0001g0096	2	116	0.0172	0	c.195 others(6): Show c.1957-5T>G		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	14/15					chr4	TogoVar
DCLK2_chr4_150073445_150262438	150249618	A A	AAAACAGC others(64): Show AAAACAGCACTTTAATAATGCGCTCCCCAAACAGAACAGCACTACCACCG GGGTCTCCGTCATCATGGTGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02273.hp2 HG02273.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0021 a0005c0010t0021	a0005c0010t0021g0042 a0005c0010t0021g0042	1	116	0.0086	71	c.200 others(82): Show c.2008_2073+5dupAAACAGCACTTTAATAATGCGCTCCCCAAACAGA ACAGCACTACCACCGGGGTCTCCGTCATCATGGTGAG		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15				INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLRE1C_chr10_14899613_14959096	14936591	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0007 a0005c0008t0007	a0005c0008t0007g0366 a0005c0008t0007g0366	1	392	0.0026	0	c.309 others(3): Show c.309G>A	p.Lys others(6): Show p.Lys103Lys	DCLRE1C	ENSG00000152457.19	transcript	ENST00000378278.7	protein_coding	5/14	395/5960	309/2079	103/692		chr10	TogoVar
DCP1B_chr12_1941053_2009457	1949079	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0010 a0011 a0016 a0017	a0001c0001 a0002c0002 a0003c0004 others(8): Show a0001c0001 a0002c0002 a0003c0004 a0006c0005 a0007c0008 a0008c0009 a0009c0010 a0010c0011 a0011c0019 a0016c0016 a0017c0017	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 a0006c0005t0001 a0007c0008t0002 a0007c0008t0004 a0008c0009t0001 a0009c0010t0002 a0010c0011t0001 a0011c0019t0001 a0016c0016t0001 a0017c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(182): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0002g0283 a0002c0002t0001g0090 a0003c0004t0001g0035 a0003c0004t0001g0286 a0003c0004t0001g0293 a0003c0004t0001g0308 a0003c0004t0001g0312 a0006c0005t0001g0028 a0006c0005t0001g0234 a0006c0005t0001g0235 a0006c0005t0001g0236 a0006c0005t0001g0237 a0007c0008t0002g0258 a0007c0008t0002g0259 a0007c0008t0004g0242 a0007c0008t0004g0256 a0007c0008t0004g0257 a0008c0009t0001g0053 a0008c0009t0001g0075 a0008c0009t0001g0076 a0008c0009t0001g0105 a0008c0009t0001g0278 a0009c0010t0002g0232 a0009c0010t0002g0317 a0009c0010t0002g0318 a0010c0011t0001g0033 a0011c0019t0001g0294 a0016c0016t0001g0071 a0017c0017t0001g0310	220	378	0.5820	0	c.177 others(6): Show c.1773+7A>G		DCP1B	ENSG00000151065.14	transcript	ENST00000280665.11	protein_coding	8/8					chr12	TogoVar
DCP1B_chr12_1941053_2009457	1955567	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01515.hp2 HG01516.hp2 HG01515.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0192 a0002c0002t0002g0212 a0002c0002t0002g0192 a0002c0002t0002g0212	2	378	0.0053	0	c.523 others(5): Show c.523-7A>G		DCP1B	ENSG00000151065.14	transcript	ENST00000280665.11	protein_coding	5/8					chr12	TogoVar
DCP2_chr5_112971798_113027195	112985827	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	364	0.0028	0	c.54- others(4): Show c.54-8T>C		DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10					chr5	TogoVar
DCP2_chr5_112971798_113027195	113010735	GTT GTT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01496.hp2 HG01515.hp1 others(57): Show HG01106.hp1 HG01496.hp2 HG01515.hp1 HG02015.hp1 HG02055.hp2 HG02145.hp2 HG02155.hp2 HG02300.hp1 HG02602.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18985.hp2 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(16): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113	a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 others(56): Show a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0006g0022 a0001c0001t0006g0114 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0013g0147 a0001c0001t0013g0153 a0001c0001t0013g0154 a0001c0001t0013g0155 a0001c0001t0013g0157 a0001c0001t0031g0205 a0001c0001t0031g0206 a0001c0001t0032g0009 a0001c0001t0033g0194 a0001c0001t0033g0209 a0001c0001t0034g0182 a0001c0001t0034g0183 a0001c0001t0042g0139 a0001c0001t0043g0195 a0001c0001t0044g0143 a0001c0001t0073g0181 a0001c0001t0074g0170 a0001c0001t0075g0188 a0001c0001t0076g0186 a0001c0001t0077g0179 a0001c0001t0078g0187 a0001c0001t0111g0152 a0001c0001t0112g0128 a0001c0001t0113g0156	60	364	0.1648	-2	c.104 others(15): Show c.1048-8_1048-7delTT		DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	9/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
DCP2_chr5_112971798_113027195	113022192	AC AC	A A	splice_region_variant splice_region_variant	LOW	HG02895.hp2 HG02922.hp1 HG02976.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0052 a0001c0002t0054 a0001c0007t0055 a0001c0002t0052 a0001c0002t0054 a0001c0007t0055	a0001c0002t0052g0048 a0001c0002t0054g0049 a0001c0007t0055g0047 a0001c0002t0052g0048 a0001c0002t0054g0049 a0001c0007t0055g0047	3	364	0.0082	-1	c.87 others(6): Show c.8709delC		DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	11/11					chr5	TogoVar
DCPS_chr11_126299060_126355005	126331556	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02258.hp2 HG02280.hp1 others(1): Show HG02257.hp1 HG02258.hp2 HG02280.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0033 a0001c0001t0003 a0001c0001t0019 a0001c0001t0033	a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0019g0225 others(1): Show a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0019g0225 a0001c0001t0033g0223	4	342	0.0117	0	c.522 others(5): Show c.522+6T>C		DCPS	ENSG00000110063.10	transcript	ENST00000263579.5	protein_coding	3/5					chr11	TogoVar
DCST1_chr1_155028824_155055930	155033974	C C	A A	splice_region_variant splice_region_variant	LOW	HG00609.hp1 HG00738.hp1 HG01099.hp1 others(30): Show HG00609.hp1 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01934.hp2 HG02109.hp1 HG02451.hp2 HG02615.hp2 HG02647.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03669.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18949.hp1 NA18979.hp1 NA18983.hp2 NA19000.hp2 NA19004.hp2 NA19030.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0021 a0002c0002t0002g0022 others(25): Show a0002c0002t0002g0013 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0055 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0115	33	306	0.1078	0	c.-63 others(3): Show c.-63C>A		DCST1	ENSG00000163357.11	transcript	ENST00000295542.6	protein_coding	2/17					chr1	TogoVar
DCST1_chr1_155028824_155055930	155047191	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	306	0.0033	0	c.149 others(6): Show c.1496-5C>T		DCST1	ENSG00000163357.11	transcript	ENST00000295542.6	protein_coding	13/16					chr1	TogoVar
DCST1_chr1_155028824_155055930	155048169	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18986.hp1 NA19081.hp2 NA18986.hp1 NA19081.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0011 a0007c0009t0001g0011	2	306	0.0065	0	c.186 others(4): Show c.1868C>T	p.Pro others(6): Show p.Pro623Leu	DCST1	ENSG00000163357.11	transcript	ENST00000295542.6	protein_coding	16/17	1964/2279	1868/2121	623/706		chr1	TogoVar
DCSTAMP_chr8_104334826_104361689	104339869	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02155.hp2 HG02155.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0005 a0008c0010t0005	a0008c0010t0005g0101 a0008c0010t0005g0101	1	434	0.0023	0	c.-13 others(5): Show c.-13+7A>G		DCSTAMP	ENSG00000164935.6	transcript	ENST00000297581.2	protein_coding	1/3					chr8	TogoVar
DCTD_chr4_182885091_182922386	182893025	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG01109.hp1 HG02895.hp2 others(4): Show HG01081.hp1 HG01109.hp1 HG02895.hp2 HG02970.hp1 HG03225.hp1 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0017 a0001c0002t0002 a0001c0002t0004 a0001c0002t0014	a0001c0001t0017g0102 a0001c0002t0002g0092 a0001c0002t0002g0095 others(4): Show a0001c0001t0017g0102 a0001c0002t0002g0092 a0001c0002t0002g0095 a0001c0002t0004g0093 a0001c0002t0004g0158 a0001c0002t0004g0267 a0001c0002t0014g0138	7	376	0.0186	0	c.458 others(5): Show c.458+6T>C		DCTD	ENSG00000129187.15	transcript	ENST00000438320.7	protein_coding	5/5					chr4	TogoVar
DCTN1_chr2_74356155_74385311	74366379	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	382	0.0026	0	c.262 others(6): Show c.2629-4G>A		DCTN1	ENSG00000204843.13	transcript	ENST00000628224.3	protein_coding	22/31					chr2	TogoVar
DCTN1_chr2_74356155_74385311	74370072	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02257.hp1 HG02723.hp1 others(2): Show HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03471.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0090 a0002c0002t0001g0014 a0002c0002t0001g0090	5	382	0.0131	0	c.128 others(6): Show c.1288-3C>T		DCTN1	ENSG00000204843.13	transcript	ENST00000628224.3	protein_coding	12/31					chr2	TogoVar
DCTN2_chr12_57525051_57552192	57547016	TCCTGTAC others(8): Show TCCTGTACTCACAATG	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19012.hp2 NA19012.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0034 a0004c0006t0002g0034	1	352	0.0028	-15	c.33_ others(23): Show c.33_36+11delCATTGTGAGTACAGG	p.Ile others(4): Show p.Ile12fs	DCTN2	ENSG00000175203.17	transcript	ENST00000548249.6	protein_coding	1/14		33/1206	11/401		chr12	TogoVar
DCTN4_chr5_150703440_150764017	150719768	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0010 a0006c0008t0010	a0006c0008t0010g0101 a0006c0008t0010g0101	1	286	0.0035	0	c.911 others(3): Show c.911A>G	p.Asn others(6): Show p.Asn304Ser	DCTN4	ENSG00000132912.13	transcript	ENST00000447998.7	protein_coding	10/13	935/4116	911/1383	304/460		chr5	TogoVar
DCTN4_chr5_150703440_150764017	150722908	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18983.hp2 NA18989.hp2 NA19091.hp1 NA18983.hp2 NA18989.hp2 NA19091.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0004 a0004c0006t0004g0004	3	286	0.0105	0	c.907 others(3): Show c.907G>A	p.Val others(6): Show p.Val303Ile	DCTN4	ENSG00000132912.13	transcript	ENST00000447998.7	protein_coding	9/13	931/4116	907/1383	303/460		chr5	TogoVar
DCTN4_chr5_150703440_150764017	150742161	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp1 HG04115.hp1 HG02602.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0134 a0001c0001t0007g0133 a0001c0001t0001g0134 a0001c0001t0007g0133	2	286	0.0070	0	c.386 others(5): Show c.386-4G>A		DCTN4	ENSG00000132912.13	transcript	ENST00000447998.7	protein_coding	3/12					chr5	TogoVar
DCTN5_chr16_23636466_23682472	23661167	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	314	0.0032	0	c.237 others(5): Show c.237-3T>C		DCTN5	ENSG00000166847.10	transcript	ENST00000300087.7	protein_coding	3/5					chr16	TogoVar
DCUN1D1_chr3_182933074_182985538	182961360	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02965.hp1 HG02970.hp2 others(1): Show HG02109.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0050 a0001c0001t0055 a0001c0001t0013 a0001c0001t0050 a0001c0001t0055	a0001c0001t0013g0264 a0001c0001t0013g0265 a0001c0001t0050g0014 others(1): Show a0001c0001t0013g0264 a0001c0001t0013g0265 a0001c0001t0050g0014 a0001c0001t0055g0295	4	326	0.0123	0	c.390 others(5): Show c.390-4G>A		DCUN1D1	ENSG00000043093.15	transcript	ENST00000292782.9	protein_coding	3/6					chr3	TogoVar
DCUN1D1_chr3_182933074_182985538	182965756	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG01255.hp1 HG00423.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0211 a0001c0002t0001g0103 a0001c0002t0001g0211	2	326	0.0061	0	c.4-3 others(3): Show c.4-3T>C		DCUN1D1	ENSG00000043093.15	transcript	ENST00000292782.9	protein_coding	1/6					chr3	TogoVar
DCUN1D4_chr4_51838153_51921837	51877857	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0112 a0001c0001t0010g0112	1	262	0.0038	0	c.343 others(5): Show c.343+3A>T		DCUN1D4	ENSG00000109184.15	transcript	ENST00000334635.10	protein_coding	5/10					chr4	TogoVar
DCUN1D4_chr4_51838153_51921837	51877859	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0238 a0001c0001t0001g0169 a0001c0001t0001g0238	2	262	0.0076	0	c.343 others(5): Show c.343+5G>C		DCUN1D4	ENSG00000109184.15	transcript	ENST00000334635.10	protein_coding	5/10					chr4	TogoVar
DCUN1D4_chr4_51838153_51921837	51886646	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00423.hp2 HG00558.hp2 others(146): Show HG00140.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0002c0002t0006	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 others(140): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0003g0091 a0001c0001t0004g0038 a0001c0001t0005g0005 a0001c0001t0005g0013 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0056 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0168 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0113 a0001c0001t0006g0151 a0001c0001t0006g0161 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0131 a0001c0001t0007g0135 a0001c0001t0007g0157 a0001c0001t0008g0015 a0001c0001t0008g0055 a0001c0001t0008g0145 a0001c0001t0008g0163 a0001c0001t0008g0226 a0001c0001t0009g0117 a0001c0001t0009g0132 a0001c0001t0009g0139 a0001c0001t0009g0164 a0001c0001t0009g0236 a0001c0001t0010g0110 a0001c0001t0010g0111 a0001c0001t0010g0112 a0001c0001t0010g0162 a0001c0001t0012g0172 a0001c0001t0012g0174 a0001c0001t0013g0022 a0001c0001t0013g0058 a0001c0001t0017g0166 a0001c0001t0019g0173 a0001c0001t0020g0234 a0001c0001t0021g0240 a0001c0001t0022g0144 a0001c0001t0023g0147 a0001c0001t0024g0176 a0001c0001t0028g0004 a0001c0001t0029g0115 a0002c0002t0006g0114	149	262	0.5687	0	c.414 others(5): Show c.414+8A>T		DCUN1D4	ENSG00000109184.15	transcript	ENST00000334635.10	protein_coding	6/10					chr4	TogoVar
DCXR_chr17_82030858_82042697	82037444	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00642.hp1 others(83): Show HG00099.hp1 HG00140.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18948.hp2 NA18959.hp1 NA18975.hp2 NA18983.hp2 NA18990.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0003c0006 a0004c0008	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0003c0006t0001 a0004c0008t0001	a0001c0001t0001g0017 a0001c0002t0001g0002 a0001c0002t0001g0004 others(10): Show a0001c0001t0001g0017 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0004t0001g0007 a0001c0005t0001g0009 a0003c0006t0001g0014 a0004c0008t0001g0016	86	422	0.2038	0	c.150 others(5): Show c.150+6T>C		DCXR	ENSG00000169738.8	transcript	ENST00000306869.7	protein_coding	2/7					chr17	TogoVar
DCXR_chr17_82030858_82042697	82037555	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02145.hp1 HG03195.hp2 others(2): Show HG01243.hp1 HG02145.hp1 HG03195.hp2 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0008 a0001c0002t0001g0011	5	422	0.0119	0	c.53- others(4): Show c.53-8C>T		DCXR	ENSG00000169738.8	transcript	ENST00000306869.7	protein_coding	1/7					chr17	TogoVar
DCX_chrX_111288779_111417192	111400990	CTGT CTGT	C C	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0135 a0002c0003t0001g0135	1	183	0.0055	-3	c.702 others(10): Show c.702_704delACA	p.Gln others(6): Show p.Gln235del	DCX	ENSG00000077279.21	transcript	ENST00000636035.2	protein_coding	3/7	781/9086	702/1101	234/366		chrX	TogoVar
DDAH1_chr1_85313485_85470159	85350541	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG01255.hp2 HG01496.hp2 others(1): Show HG00323.hp1 HG01255.hp2 HG01496.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0082 a0001c0002t0006g0083 a0001c0002t0006g0084 others(1): Show a0001c0002t0006g0082 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0002t0006g0087	4	416	0.0096	0	c.478 others(5): Show c.478-7C>T		DDAH1	ENSG00000153904.21	transcript	ENST00000284031.13	protein_coding	3/5					chr1	TogoVar
DDAH1_chr1_85313485_85470159	85351586	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp2 HG02738.hp1 HG02040.hp2 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0106 a0001c0002t0006g0246 a0001c0002t0006g0106 a0001c0002t0006g0246	2	416	0.0048	0	c.404 others(5): Show c.404-7A>G		DDAH1	ENSG00000153904.21	transcript	ENST00000284031.13	protein_coding	2/5					chr1	TogoVar
DDB1_chr11_61294451_61338105	61302577	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02818.hp2 HG02451.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0033 a0001c0001t0002g0034	2	180	0.0111	0	c.311 others(6): Show c.3112+5G>T		DDB1	ENSG00000167986.15	transcript	ENST00000301764.12	protein_coding	24/26					chr11	TogoVar
DDB1_chr11_61294451_61338105	61303859	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01891.hp1 HG02015.hp2 others(18): Show HG01243.hp2 HG01891.hp1 HG02015.hp2 HG02145.hp2 HG02165.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG03017.hp1 HG03139.hp2 HG03516.hp1 NA18954.hp1 NA18966.hp1 NA18972.hp1 NA18986.hp1 NA19010.hp2 NA19060.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(13): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0006t0002g0018	21	180	0.1167	0	c.283 others(6): Show c.2832+6G>A		DDB1	ENSG00000167986.15	transcript	ENST00000301764.12	protein_coding	22/26					chr11	TogoVar
DDB1_chr11_61294451_61338105	61308984	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0116 a0002c0005t0001g0116	1	180	0.0056	0	c.266 others(4): Show c.2660C>T	p.Thr others(6): Show p.Thr887Met	DDB1	ENSG00000167986.15	transcript	ENST00000301764.12	protein_coding	21/27	2797/4245	2660/3423	887/1140		chr11	TogoVar
DDB1_chr11_61294451_61338105	61310416	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	180	0.0056	0	c.228 others(4): Show c.2280T>C	p.Ala others(6): Show p.Ala760Ala	DDB1	ENSG00000167986.15	transcript	ENST00000301764.12	protein_coding	19/27	2417/4245	2280/3423	760/1140		chr11	TogoVar
DDB1_chr11_61294451_61338105	61326898	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02922.hp2 HG03130.hp1 HG02280.hp1 HG02922.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0012 a0001c0001t0001g0072	3	180	0.0167	0	c.550 others(5): Show c.550-5C>A		DDB1	ENSG00000167986.15	transcript	ENST00000301764.12	protein_coding	4/26					chr11	TogoVar
DDC_chr7_50453442_50570405	50476616	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00423.hp2 HG00544.hp1 others(62): Show HG00099.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp2 HG00741.hp2 HG01070.hp2 HG01106.hp2 HG01167.hp1 HG01884.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02132.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03490.hp1 HG03669.hp1 HG03942.hp1 NA18747.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18965.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19056.hp2 NA19063.hp1 NA19072.hp2 NA19075.hp1 NA19079.hp2 NA19080.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0007 a0002c0004 others(2): Show a0001c0001 a0001c0007 a0002c0004 a0004c0005 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0007t0001 a0002c0004t0004 a0004c0005t0003 a0004c0005t0005 a0007c0010t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 others(62): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0225 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0253 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0007g0296 a0001c0007t0001g0289 a0001c0007t0001g0297 a0001c0007t0001g0308 a0002c0004t0004g0031 a0002c0004t0004g0138 a0004c0005t0003g0283 a0004c0005t0003g0284 a0004c0005t0003g0285 a0004c0005t0003g0286 a0004c0005t0005g0013 a0007c0010t0001g0077	65	360	0.1806	0	c.104 others(6): Show c.1041+8G>A		DDC	ENSG00000132437.18	transcript	ENST00000444124.7	protein_coding	11/14					chr7	TogoVar
DDR1_chr6_30879519_30905156	30897595	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0001 a0001c0013t0002g0001	1	431	0.0023	0	c.221 others(4): Show c.2214C>T	p.Ile others(6): Show p.Ile738Ile	DDR1	ENSG00000204580.14	transcript	ENST00000376568.8	protein_coding	15/18	2448/3836	2214/2742	738/913		chr6	TogoVar
DDR2_chr1_162627464_162792405	162753091	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	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	0	c.83- others(4): Show c.83-4C>T		DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17					chr1	TogoVar
DDRGK1_chr20_3185350_3209682	3203207	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02572.hp2 HG02717.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0061 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0061	3	438	0.0069	0	c.295 others(5): Show c.295+6A>G		DDRGK1	ENSG00000198171.13	transcript	ENST00000354488.8	protein_coding	2/8					chr20	TogoVar
DDTL_chr22_23961888_23977556	23967025	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp2 HG02135.hp1 HG03688.hp1 others(6): Show HG02027.hp2 HG02135.hp1 HG03688.hp1 NA18969.hp1 NA18979.hp1 NA19005.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0011 a0002c0003t0006g0040 a0002c0003t0006g0011 a0002c0003t0006g0040	9	324	0.0278	0	c.108 others(5): Show c.108+3A>G		DDTL	ENSG00000099974.8	transcript	ENST00000215770.6	protein_coding	1/2					chr22	TogoVar
DDT_chr22_23966370_23979441	23974304	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp1 HG02135.hp1 HG03688.hp1 others(7): Show HG02027.hp1 HG02135.hp1 HG03688.hp1 NA18968.hp1 NA18969.hp1 NA18979.hp1 NA19005.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0007 a0001c0001t0001g0030	10	316	0.0317	0	c.108 others(5): Show c.108+3A>G		DDT	ENSG00000099977.16	transcript	ENST00000398344.9	protein_coding	1/2					chr22	TogoVar
DDX10_chr11_108660069_108945927	108675733	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	320	0.0031	0	c.378 others(5): Show c.378+7A>G		DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	3/17					chr11	TogoVar
DDX10_chr11_108660069_108945927	108677085	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0235 a0004c0013t0001g0235	1	320	0.0031	0	c.379 others(3): Show c.379G>T	p.Val others(6): Show p.Val127Leu	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	4/18	464/3217	379/2628	127/875		chr11	TogoVar
DDX10_chr11_108660069_108945927	108679558	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0060 a0001c0006t0001g0060	1	320	0.0031	0	c.846 others(3): Show c.846T>C	p.Tyr others(6): Show p.Tyr282Tyr	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	6/18	931/3217	846/2628	282/875		chr11	TogoVar
DDX10_chr11_108660069_108945927	108940238	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG00735.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0230 a0006c0009t0001g0230	1	320	0.0031	0	c.245 others(6): Show c.2451-8C>A		DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	17/17					chr11	TogoVar
DDX10_chr11_108660069_108945927	108940242	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG00735.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0230 a0006c0009t0001g0230	1	320	0.0031	0	c.245 others(6): Show c.2451-4C>G		DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	17/17					chr11	TogoVar
DDX10_chr11_108660069_108945927	108940243	CAGTGATA others(3): Show CAGTGATACCA	C C	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00735.hp2 HG00735.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0230 a0006c0009t0001g0230	1	320	0.0031	-10	c.245 others(19): Show c.2451_2460delTGATACCAAG	p.Ser others(5): Show p.Ser817fs	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	18/18	2536/3217	2451/2628	817/875	INFO_REALIGN_3_PRIME	chr11	TogoVar

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