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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DSG4_chr18_31371777_31419909	31410486	C C	CACAGAGT others(7): Show CACAGAGTACATGCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01891.hp1 others(12): Show HG01167.hp1 HG01169.hp1 HG01891.hp1 HG02451.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03540.hp1 NA19043.hp1 NA19240.hp2	a0001 a0007 a0010 others(2): Show a0001 a0007 a0010 a0016 a0019	a0001c0002 a0001c0005 a0001c0008 others(8): Show a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0019 a0001c0025 a0001c0030 a0007c0043 a0010c0021 a0016c0042 a0019c0041	a0001c0002t0007 a0001c0005t0002 a0001c0005t0017 others(10): Show a0001c0002t0007 a0001c0005t0002 a0001c0005t0017 a0001c0008t0002 a0001c0009t0003 a0001c0019t0003 a0001c0025t0003 a0001c0030t0002 a0007c0043t0003 a0010c0021t0010 a0010c0021t0012 a0016c0042t0003 a0019c0041t0002	a0001c0002t0007g0027 a0001c0005t0002g0061 a0001c0005t0017g0050 others(11): Show a0001c0002t0007g0027 a0001c0005t0002g0061 a0001c0005t0017g0050 a0001c0008t0002g0084 a0001c0009t0003g0057 a0001c0019t0003g0125 a0001c0025t0003g0217 a0001c0025t0003g0218 a0001c0030t0002g0200 a0007c0043t0003g0169 a0010c0021t0010g0056 a0010c0021t0012g0055 a0016c0042t0003g0047 a0019c0041t0002g0060	15	344	0.0436	14	c.213 others(31): Show c.2137+680_2137+681insAGAGTACATGCTAC	DSG4	ENSG00000175065.12	transcript	ENST00000308128.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSN1_chr20_36746795_36778763	36751473	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG00738.hp2 others(41): Show HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02055.hp2 HG02080.hp1 HG02145.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03669.hp2 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18954.hp2 NA18955.hp1 NA18991.hp1 NA18991.hp2 NA19009.hp2 NA19064.hp2 NA19068.hp1 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 a0001c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0240 a0001c0001t0009g0242 a0001c0002t0002g0004 a0001c0002t0002g0015 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0005t0004g0045	44	332	0.1325	14	c.13 others(25): Show c.1314_*1315insAAAAAAAAAAAAAA	DSN1	ENSG00000149636.16	transcript	ENST00000373750.9	protein_coding		321		chr20	TogoVar
DSPP_chr4_87603529_87621873	87611030	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0064 a0007c0006t0001g0064	1	450	0.0022	14	c.51+ others(26): Show c.51+91_51+104dupTGTGTGTGTGTGTG	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87617255	G G	GTAATCTG others(7): Show GTAATCTGATGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	450	0.0022	14	c.68 others(23): Show c.687_*688insTAATCTGATGTATA	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding		383		chr4	TogoVar
DSP_chr6_7536671_7591714	7538659	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02486.hp1 HG02895.hp2 others(1): Show HG01081.hp2 HG02486.hp1 HG02895.hp2 HG02965.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0029 a0001c0001 a0009c0029	a0001c0001t0001 a0009c0029t0001 a0001c0001t0001 a0009c0029t0001	a0001c0001t0001g0110 a0001c0001t0001g0220 a0009c0029t0001g0226 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0220 a0009c0029t0001g0226 a0009c0029t0001g0227	4	396	0.0101	14	c.-32 others(25): Show c.-3257_-3256insTGTGTGTGTGTGTG	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding		3011		chr6	TogoVar
DSP_chr6_7536671_7591714	7554080	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	396	0.0025	14	c.171 others(31): Show c.171-1637_171-1636insCACACACACACACA	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSP_chr6_7536671_7591714	7554082	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01081.hp1 others(24): Show HG00639.hp1 HG01074.hp1 HG01081.hp1 HG01346.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02129.hp1 HG02647.hp1 HG02647.hp2 HG03098.hp1 HG03195.hp2 HG03492.hp1 HG03516.hp2 NA18522.hp1 NA18940.hp2 NA18942.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18972.hp1 NA18974.hp1 NA18986.hp2 NA19080.hp1 NA19085.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0016 a0021	a0001c0001 a0001c0004 a0001c0007 others(15): Show a0001c0001 a0001c0004 a0001c0007 a0001c0041 a0001c0053 a0002c0002 a0002c0003 a0002c0024 a0003c0006 a0003c0009 a0003c0040 a0003c0055 a0004c0012 a0005c0008 a0006c0016 a0009c0069 a0016c0052 a0021c0046	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(15): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0041t0001 a0001c0053t0001 a0002c0002t0001 a0002c0003t0001 a0002c0024t0001 a0003c0006t0003 a0003c0009t0002 a0003c0040t0002 a0003c0055t0002 a0004c0012t0002 a0005c0008t0001 a0006c0016t0001 a0009c0069t0001 a0016c0052t0001 a0021c0046t0001	a0001c0001t0001g0085 a0001c0001t0001g0137 a0001c0001t0001g0138 others(23): Show a0001c0001t0001g0085 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0184 a0001c0001t0001g0235 a0001c0004t0001g0136 a0001c0004t0001g0348 a0001c0007t0001g0267 a0001c0007t0001g0314 a0001c0041t0001g0319 a0001c0053t0001g0016 a0002c0002t0001g0027 a0002c0002t0001g0160 a0002c0002t0001g0346 a0002c0003t0001g0032 a0002c0024t0001g0068 a0003c0006t0003g0118 a0003c0009t0002g0279 a0003c0040t0002g0301 a0003c0055t0002g0366 a0004c0012t0002g0179 a0005c0008t0001g0014 a0006c0016t0001g0058 a0009c0069t0001g0361 a0016c0052t0001g0024 a0021c0046t0001g0300	27	396	0.0682	14	c.171 others(31): Show c.171-1605_171-1592dupACACACACACACAC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSP_chr6_7536671_7591714	7554125	A A	ACACACAC others(7): Show ACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG01884.hp1 HG03209.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0015 a0001c0033t0001g0015	2	396	0.0051	14	c.171 others(31): Show c.171-1592_171-1591insACACACACACACCC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSTN_chr20_17565075_17614919	17583735	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02071.hp2 NA18992.hp1 others(1): Show HG00609.hp1 HG02071.hp2 NA18992.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0166 a0001c0001t0011g0196 a0001c0001t0011g0198 others(1): Show a0001c0001t0011g0166 a0001c0001t0011g0196 a0001c0001t0011g0198 a0001c0001t0011g0199	4	348	0.0115	14	c.3+1 others(29): Show c.3+13534_3+13547dupTTTTTTTTTTTTTT	DSTN	ENSG00000125868.16	transcript	ENST00000246069.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
DST_chr6_56452996_56959830	56475394	A A	AACACACA others(7): Show AACACACACACAAAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp1 HG03041.hp2 HG03579.hp1	a0007 a0007	a0007c0008 a0007c0053 a0007c0008 a0007c0053	a0007c0008t0001 a0007c0053t0001 a0007c0008t0001 a0007c0053t0001	a0007c0008t0001g0012 a0007c0053t0001g0049 a0007c0008t0001g0012 a0007c0053t0001g0049	2	84	0.0238	14	c.218 others(33): Show c.21864+754_21864+755insGTTTGTGTGTGTGT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	92/103			chr6	TogoVar
DST_chr6_56452996_56959830	56475394	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0013 a0006c0007t0001g0013	1	84	0.0119	14	c.218 others(33): Show c.21864+741_21864+754dupGTGTGTGTGTGTGT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	92/103			chr6	TogoVar
DST_chr6_56452996_56959830	56503594	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0023 a0023	a0023c0045 a0023c0045	a0023c0045t0001 a0023c0045t0001	a0023c0045t0001g0055 a0023c0045t0001g0055	1	84	0.0119	14	c.195 others(33): Show c.19566+389_19566+402dupGTGTGTGTGTGTGT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	78/103			chr6	TogoVar
DST_chr6_56452996_56959830	56593516	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03471.hp2 HG01358.hp2 HG03471.hp2	a0008 a0012 a0008 a0012	a0008c0052 a0012c0009 a0008c0052 a0012c0009	a0008c0052t0001 a0012c0009t0003 a0008c0052t0001 a0012c0009t0003	a0008c0052t0001g0022 a0012c0009t0003g0063 a0008c0052t0001g0022 a0012c0009t0003g0063	2	84	0.0238	14	c.127 others(33): Show c.12726+133_12726+146dupTTTTTTTTTTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	48/103			chr6	TogoVar
DST_chr6_56452996_56959830	56633233	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0027 a0020c0022t0001g0027	1	84	0.0119	14	c.362 others(31): Show c.3622-197_3622-196insAAAAAAAAAAAAAA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	27/103			chr6	TogoVar
DST_chr6_56452996_56959830	56641115	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0014 a0006c0007t0001g0014	1	84	0.0119	14	c.202 others(31): Show c.2028-524_2028-511dupCTCTCTCTCTCTCT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	17/103			chr6	TogoVar
DST_chr6_56452996_56959830	56695126	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02451.hp2 HG01069.hp1 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0077 a0002c0002t0001g0066 a0002c0002t0001g0077	2	84	0.0238	14	c.104 others(33): Show c.1047+4513_1047+4526dupTTTTTTTTTTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	9/103			chr6	TogoVar
DST_chr6_56452996_56959830	56763684	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0042 a0042	a0042c0039 a0042c0039	a0042c0039t0001 a0042c0039t0001	a0042c0039t0001g0083 a0042c0039t0001g0083	1	84	0.0119	14	c.626 others(33): Show c.626-28409_626-28396dupGTGTGTGTGTGTGT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103			chr6	TogoVar
DST_chr6_56452996_56959830	56916778	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0001 a0016c0010t0001	a0016c0010t0001g0005 a0016c0010t0001g0005	1	84	0.0119	14	c.217 others(33): Show c.217-16158_217-16157insTGTGAGAGAGAGAG	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DST_chr6_56452996_56959830	56920895	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0026 a0026	a0026c0014 a0026c0014	a0026c0014t0001 a0026c0014t0001	a0026c0014t0001g0059 a0026c0014t0001g0059	1	84	0.0119	14	c.217 others(33): Show c.217-20288_217-20275dupAAAAAAAAAAAAAA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DST_chr6_56452996_56959830	56934559	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0010 a0010	a0010c0057 a0010c0057	a0010c0057t0001 a0010c0057t0001	a0010c0057t0001g0015 a0010c0057t0001g0015	1	84	0.0119	14	c.216 others(33): Show c.216+19225_216+19226insATATATATATATAT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DST_chr6_56452996_56959830	56938108	C C	CTCTATAT others(7): Show CTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0015 a0015	a0015c0012 a0015c0012	a0015c0012t0001 a0015c0012t0001	a0015c0012t0001g0062 a0015c0012t0001g0062	1	84	0.0119	14	c.216 others(33): Show c.216+15676_216+15677insTATATATATATAGA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DST_chr6_56609597_56647889	56633233	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0001 a0027c0023t0001	a0027c0023t0001g0066 a0027c0023t0001g0066	1	326	0.0031	14	c.201 others(31): Show c.2011-197_2011-196insAAAAAAAAAAAAAA	DST	ENSG00000151914.22	transcript	ENST00000370765.11	protein_coding	13/23			chr6	TogoVar
DST_chr6_56609597_56647889	56641115	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03139.hp2 HG01884.hp2 HG03139.hp2	a0006 a0031 a0006 a0031	a0006c0010 a0031c0019 a0006c0010 a0031c0019	a0006c0010t0001 a0031c0019t0003 a0006c0010t0001 a0031c0019t0003	a0006c0010t0001g0043 a0031c0019t0003g0065 a0006c0010t0001g0043 a0031c0019t0003g0065	2	326	0.0061	14	c.417 others(29): Show c.417-524_417-511dupCTCTCTCTCTCTCT	DST	ENSG00000151914.22	transcript	ENST00000370765.11	protein_coding	3/23			chr6	TogoVar
DTD1_chr20_18583054_18771644	18622942	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG01496.hp1 others(41): Show HG00735.hp1 HG01123.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18949.hp1 NA18949.hp2 NA18953.hp2 NA18963.hp2 NA18967.hp1 NA18981.hp1 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19067.hp1 NA19080.hp1 NA19090.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0003c0004t0001	a0001c0001t0001g0185 a0001c0001t0001g0228 a0001c0001t0001g0229 others(41): Show a0001c0001t0001g0185 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0003g0170 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0223 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0265 a0001c0001t0004g0289 a0001c0001t0004g0396 a0001c0001t0004g0397 a0001c0001t0006g0007 a0001c0001t0006g0249 a0001c0001t0008g0195 a0001c0001t0008g0211 a0003c0004t0001g0293	44	398	0.1106	14	c.371 others(31): Show c.371-5173_371-5172insTTTTTTTTTTTTTT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18623874	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01516.hp1 HG01978.hp1 others(9): Show HG01099.hp1 HG01516.hp1 HG01978.hp1 HG02055.hp1 HG02698.hp1 HG02723.hp2 NA18954.hp2 NA18964.hp1 NA18984.hp1 NA18992.hp1 NA19064.hp1 NA19066.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 a0001c0001t0035 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0246 a0001c0001t0001g0262 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0006g0231 a0001c0001t0006g0249 a0001c0001t0027g0216 a0001c0001t0035g0368 a0003c0004t0001g0293	12	398	0.0302	14	c.371 others(31): Show c.371-4233_371-4220dupGTGTGTGTGTGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18649326	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	398	0.0025	14	c.477 others(33): Show c.477+21110_477+21123dupTTTTTTTTTTTTTT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18753607	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG01070.hp1 others(46): Show HG00558.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG06807.hp1 NA18612.hp1 NA18953.hp2 NA18954.hp2 NA18965.hp1 NA18990.hp1 NA19030.hp1 NA19067.hp1 NA19074.hp1 NA19080.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0025 a0001c0003t0019	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0197 others(46): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0197 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0004g0223 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0265 a0001c0001t0004g0289 a0001c0001t0004g0396 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0224 a0001c0001t0006g0226 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0235 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0249 a0001c0001t0006g0254 a0001c0001t0006g0255 a0001c0001t0025g0217 a0001c0003t0019g0157	49	398	0.1231	14	c.19 others(31): Show c.19+9338_*19+9351dupAAAAAAAAAAAAAA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTHD1_chr4_36276616_36352511	36300636	A A	ATTATTCT others(7): Show ATTATTCTAAATTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(190): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0012 a0016 a0017 a0018 a0020 a0025	a0001c0001 a0001c0002 a0001c0004 others(27): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0019 a0001c0033 a0001c0043 a0002c0003 a0002c0012 a0002c0017 a0002c0038 a0003c0005 a0003c0011 a0003c0022 a0003c0023 a0003c0042 a0004c0007 a0004c0009 a0004c0035 a0005c0006 a0008c0014 a0009c0024 a0010c0020 a0012c0032 a0012c0046 a0016c0036 a0017c0037 a0018c0034 a0020c0039 a0025c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0002t0018 a0001c0002t0021 a0001c0002t0029 a0001c0004t0003 a0001c0004t0013 a0001c0008t0003 a0001c0019t0003 a0001c0019t0004 a0001c0019t0028 a0001c0033t0009 a0001c0043t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0007 a0002c0003t0012 a0002c0003t0014 a0002c0003t0015 a0002c0003t0020 a0002c0003t0022 a0002c0003t0024 a0002c0012t0001 a0002c0012t0007 a0002c0012t0011 a0002c0017t0004 a0002c0038t0007 a0003c0005t0001 a0003c0005t0003 a0003c0005t0005 a0003c0005t0008 a0003c0005t0011 a0003c0011t0009 a0003c0011t0010 a0003c0022t0003 a0003c0023t0003 a0003c0042t0003 a0004c0007t0001 a0004c0007t0003 a0004c0007t0005 a0004c0007t0006 a0004c0007t0008 a0004c0009t0009 a0004c0009t0017 a0004c0035t0003 a0005c0006t0001 a0005c0006t0003 a0005c0006t0005 a0005c0006t0006 a0008c0014t0006 a0009c0024t0009 a0010c0020t0005 a0012c0032t0009 a0012c0046t0010 a0016c0036t0002 a0017c0037t0022 a0018c0034t0002 a0020c0039t0009 a0025c0026t0009	a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0041 others(176): Show a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0002g0004 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0248 a0001c0001t0003g0005 a0001c0001t0003g0091 a0001c0001t0004g0084 a0001c0001t0004g0093 a0001c0001t0005g0014 a0001c0001t0006g0030 a0001c0001t0006g0049 a0001c0001t0006g0173 a0001c0001t0006g0197 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0053 a0001c0001t0007g0180 a0001c0001t0007g0196 a0001c0001t0008g0031 a0001c0001t0008g0080 a0001c0001t0008g0081 a0001c0001t0008g0082 a0001c0001t0008g0096 a0001c0001t0012g0089 a0001c0001t0015g0161 a0001c0001t0026g0104 a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0002g0149 a0001c0002t0002g0187 a0001c0002t0004g0008 a0001c0002t0004g0076 a0001c0002t0004g0097 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0106 a0001c0002t0004g0121 a0001c0002t0004g0122 a0001c0002t0004g0124 a0001c0002t0004g0125 a0001c0002t0004g0129 a0001c0002t0005g0029 a0001c0002t0005g0065 a0001c0002t0005g0067 a0001c0002t0005g0218 a0001c0002t0005g0242 a0001c0002t0006g0036 a0001c0002t0006g0141 a0001c0002t0006g0147 a0001c0002t0006g0162 a0001c0002t0006g0164 a0001c0002t0006g0168 a0001c0002t0006g0169 a0001c0002t0012g0006 a0001c0002t0012g0103 a0001c0002t0014g0123 a0001c0002t0015g0165 a0001c0002t0018g0066 a0001c0002t0021g0139 a0001c0002t0029g0100 a0001c0004t0003g0023 a0001c0004t0013g0022 a0001c0008t0003g0021 a0001c0019t0003g0070 a0001c0019t0004g0087 a0001c0019t0028g0069 a0001c0033t0009g0144 a0001c0043t0004g0078 a0002c0003t0001g0241 a0002c0003t0002g0059 a0002c0003t0002g0185 a0002c0003t0006g0211 a0002c0003t0007g0001 a0002c0003t0007g0003 a0002c0003t0007g0016 a0002c0003t0007g0061 a0002c0003t0012g0002 a0002c0003t0012g0090 a0002c0003t0014g0032 a0002c0003t0014g0287 a0002c0003t0015g0145 a0002c0003t0015g0156 a0002c0003t0015g0212 a0002c0003t0020g0095 a0002c0003t0022g0085 a0002c0003t0024g0216 a0002c0012t0001g0154 a0002c0012t0007g0056 a0002c0012t0007g0058 a0002c0012t0011g0033 a0002c0017t0004g0035 a0002c0038t0007g0001 a0003c0005t0001g0010 a0003c0005t0001g0135 a0003c0005t0001g0146 a0003c0005t0003g0079 a0003c0005t0005g0182 a0003c0005t0008g0126 a0003c0005t0008g0127 a0003c0005t0008g0128 a0003c0005t0011g0034 a0003c0011t0009g0143 a0003c0011t0010g0098 a0003c0011t0010g0099 a0003c0011t0010g0136 a0003c0022t0003g0068 a0003c0023t0003g0083 a0003c0023t0003g0086 a0003c0042t0003g0077 a0004c0007t0001g0062 a0004c0007t0001g0184 a0004c0007t0003g0286 a0004c0007t0005g0181 a0004c0007t0006g0151 a0004c0007t0008g0094 a0004c0009t0009g0150 a0004c0009t0009g0215 a0004c0009t0017g0140 a0004c0009t0017g0219 a0004c0035t0003g0288 a0005c0006t0001g0186 a0005c0006t0003g0092 a0005c0006t0005g0039 a0005c0006t0005g0052 a0005c0006t0005g0221 a0005c0006t0005g0224 a0005c0006t0006g0152 a0005c0006t0006g0153 a0008c0014t0006g0011 a0008c0014t0006g0190 a0008c0014t0006g0193 a0008c0014t0006g0195 a0009c0024t0009g0057 a0009c0024t0009g0189 a0010c0020t0005g0160 a0010c0020t0005g0170 a0010c0020t0005g0225 a0012c0032t0009g0167 a0012c0046t0010g0024 a0016c0036t0002g0155 a0017c0037t0022g0088 a0018c0034t0002g0171 a0020c0039t0009g0060 a0025c0026t0009g0210	193	308	0.6266	14	c.164 others(33): Show c.1644-5549_1644-5536dupCTAAATTTGTTATT	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
DTL_chr1_212030748_212110013	212051442	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA19012.hp2 HG01255.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0113 a0001c0001t0001g0114	2	364	0.0055	14	c.460 others(31): Show c.460+4056_460+4069dupTTTTTTTTTTTTTT	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DTNA_chr18_34705298_34896844	34722606	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA21309.hp2 HG02818.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0016 a0001c0001t0022g0013 a0001c0001t0002g0016 a0001c0001t0022g0013	2	112	0.0179	14	c.-2+ others(31): Show c.-2+12173_-2+12186dupCACACACACACACA	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNA_chr18_34705298_34896844	34747104	C C	CTATCTAT others(7): Show CTATCTATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	112	0.0089	14	c.-1- others(29): Show c.-1-8869_-1-8868insCTATATATATATAT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNA_chr18_34705298_34896844	34747104	C C	CTATCTAT others(7): Show CTATCTATCTATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02922.hp2 others(1): Show HG02055.hp1 HG02451.hp2 HG02922.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0001 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0005g0005 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0005g0005 a0001c0001t0012g0007	4	112	0.0357	14	c.-1- others(29): Show c.-1-8869_-1-8868insCTATCTATATATAT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNBP1_chr6_15517807_15668028	15553594	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG00735.hp1 others(40): Show HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01256.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp2 HG01981.hp2 HG02129.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02717.hp1 HG02886.hp1 HG02897.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03579.hp1 HG03704.hp1 HG03834.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18991.hp2 NA19064.hp2 NA19081.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0004c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(40): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0145 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0282 a0001c0001t0003g0292 a0002c0002t0003g0295 a0004c0004t0001g0236 a0004c0004t0001g0250 a0004c0004t0001g0286	43	314	0.1369	14	c.512 others(33): Show c.512-20200_512-20199insAAAAAAAAAAAAAA	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	7/9			chr6	TogoVar
DTNBP1_chr6_15517807_15668028	15636157	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02055.hp2 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0261 a0002c0002t0005g0262 a0002c0002t0005g0261 a0002c0002t0005g0262	2	314	0.0064	14	c.222 others(31): Show c.222+1573_222+1586dupAAAAAAAAAAAAAA	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	4/9			chr6	TogoVar
DTNB_chr2_25372243_25678577	25399350	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(39): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01074.hp1 HG01258.hp2 HG01496.hp1 HG01981.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02970.hp1 HG03453.hp1 HG03486.hp2 HG03831.hp1 HG04184.hp2 HG04204.hp2 NA18951.hp2 NA18960.hp1 NA18971.hp2 NA18990.hp1 NA18993.hp1 NA19005.hp2 NA19011.hp1 NA19043.hp1 NA19063.hp1 NA19065.hp2 NA19079.hp1 NA19083.hp2 NA19088.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0004 a0001c0001 a0001c0002 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0004c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(39): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0003g0168 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0052 a0001c0002t0001g0107 a0001c0002t0001g0143 a0001c0002t0001g0151 a0004c0004t0001g0060	42	168	0.2500	14	c.157 others(35): Show c.1576-11003_1576-10990dupAAAAAAAAAAAAAA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	16/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25399364	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	168	0.0060	14	c.157 others(35): Show c.1576-11004_1576-11003insTAAAAAAAAAAAAA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	16/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25427180	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	168	0.0060	14	c.155 others(31): Show c.1554+341_1554+354dupGTGTGTGTGTGTGT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	15/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25491148	C C	CACACACA others(7): Show CACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp1 NA19043.hp2 HG01496.hp1 HG02615.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0022 a0001c0001t0001g0139 a0001c0001t0001g0140	3	168	0.0179	14	c.100 others(33): Show c.1002-8276_1002-8275insCTGTGTGTGTGTGT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25491158	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp2 HG02055.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0121 a0001c0002t0001g0105 a0001c0002t0001g0121	2	168	0.0119	14	c.100 others(33): Show c.1002-8286_1002-8285insGTGTGTGTGTGTGT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25526395	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19000.hp1 HG02922.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0164 a0001c0001t0001g0048 a0001c0001t0001g0164	2	168	0.0119	14	c.100 others(33): Show c.1001+5077_1001+5078insAAAATATATATATA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25526395	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	168	0.0060	14	c.100 others(33): Show c.1001+5077_1001+5078insAAAAAATATATATA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTWD1_chr15_49616048_49661232	49633043	C C	CTATATAT others(7): Show CTATATATATCTATA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	342	0.0029	14	c.408 others(29): Show c.408+746_408+747insATATCTATATATAT	DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
DTWD1_chr15_49616048_49661232	49633043	C C	CTATCTAT others(7): Show CTATCTATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	342	0.0029	14	c.408 others(29): Show c.408+744_408+745insCTATATATATATAT	DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
DTWD2_chr5_118831074_118993547	118985490	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01071.hp1 others(14): Show HG00099.hp1 HG01070.hp1 HG01071.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01993.hp2 HG02055.hp2 HG03209.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03942.hp1 NA19063.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0071 a0001c0001t0001g0165 a0001c0001t0001g0189 others(14): Show a0001c0001t0001g0071 a0001c0001t0001g0165 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0002g0070 a0001c0001t0002g0196 a0001c0001t0006g0072 a0001c0001t0011g0073 a0001c0002t0001g0004 a0001c0002t0001g0005	17	242	0.0703	14	c.218 others(31): Show c.218+2790_218+2803dupTATATATATATATA	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5			chr5	TogoVar
DTWD2_chr5_118831074_118993547	118985517	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG01257.hp2 others(5): Show HG00738.hp1 HG01109.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG02129.hp1 HG02738.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(5): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0002g0107 a0001c0001t0002g0126	8	242	0.0331	14	c.218 others(31): Show c.218+2776_218+2777insGTATATATATATAT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5			chr5	TogoVar
DTX2_chr7_76456709_76510991	76460518	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02723.hp2 others(4): Show HG02257.hp2 HG02630.hp2 HG02723.hp2 HG03486.hp2 HG03579.hp2 HG03942.hp2 NA18942.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0002c0002 a0002c0008 others(1): Show a0001c0003 a0002c0002 a0002c0008 a0009c0015	a0001c0003t0001 a0002c0002t0001 a0002c0008t0001 others(1): Show a0001c0003t0001 a0002c0002t0001 a0002c0008t0001 a0009c0015t0001	a0001c0003t0001g0152 a0001c0003t0001g0219 a0001c0003t0001g0220 others(4): Show a0001c0003t0001g0152 a0001c0003t0001g0219 a0001c0003t0001g0220 a0002c0002t0001g0209 a0002c0002t0001g0221 a0002c0008t0001g0229 a0009c0015t0001g0191	7	280	0.0250	14	c.-15 others(25): Show c.-1573_-1572insTTTTTTTTTTTTTT	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding		1190		chr7	TogoVar
DTX2_chr7_76456709_76510991	76493969	A A	AGAATTTA others(7): Show AGAATTTAAAAATTC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0268 a0002c0007t0001g0268	1	280	0.0036	14	c.100 others(33): Show c.1009+1717_1009+1730dupGAATTTAAAAATTC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX3L_chr3_122559338_122580203	122562158	C C	CTTTTCTT others(7): Show CTTTTCTTTTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	472	0.0021	14	c.-22 others(25): Show c.-2269_-2268insTTTTCTTTTTTCTT	DTX3L	ENSG00000163840.10	transcript	ENST00000296161.9	protein_coding		2179		chr3	TogoVar
DTX3L_chr3_122559338_122580203	122579993	C C	CTATATAT others(7): Show CTATATATGTATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG01109.hp2 HG02258.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0037 a0003c0007t0013 a0003c0007t0037	a0003c0007t0013g0129 a0003c0007t0037g0053 a0003c0007t0013g0129 a0003c0007t0037g0053	2	472	0.0042	14	c.82 others(25): Show c.8246_*8247insTATATATGTATGTA	DTX3L	ENSG00000163840.10	transcript	ENST00000296161.9	protein_coding		4791		chr3	TogoVar
DTX3L_chr3_122559338_122580203	122579999	G G	GTATATAT others(7): Show GTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG03831.hp2 NA18945.hp1 others(4): Show HG00280.hp2 HG03831.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA19030.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0006 a0001c0001t0009 a0001c0003t0001 others(3): Show a0001c0001t0006 a0001c0001t0009 a0001c0003t0001 a0001c0003t0041 a0002c0002t0001 a0002c0004t0001	a0001c0001t0006g0027 a0001c0001t0009g0001 a0001c0003t0001g0009 others(3): Show a0001c0001t0006g0027 a0001c0001t0009g0001 a0001c0003t0001g0009 a0001c0003t0041g0006 a0002c0002t0001g0020 a0002c0004t0001g0008	7	472	0.0148	14	c.82 others(25): Show c.8252_*8253insTATATATATATATA	DTX3L	ENSG00000163840.10	transcript	ENST00000296161.9	protein_coding		4797		chr3	TogoVar

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