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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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
DHX36_chr3_154267546_154329487	154310793	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0189 a0001c0006t0016g0189	1	366	0.0027	-37	c.642 others(52): Show c.642+806_642+842delATATATATATATATATATATATATTTTTTT TTTTTTT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24			chr3	TogoVar
DHX36_chr3_154267546_154329487	154310797	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0190 a0001c0006t0027g0190	1	366	0.0027	-37	c.642 others(52): Show c.642+802_642+838delATATATATATATATATATATATATATATTT TTTTTTT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24			chr3	TogoVar
DHX58_chr17_42096411_42117714	42115511	GTTCCTCC others(30): Show GTTCCTCCGGCCTGCTCTACTGGCCCCACAGGCCCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	352	0.0028	-37	c.-30 others(48): Show c.-3038_-3002delTGAGGGCCTGTGGGGCCAGTAGAGCAGGCCGGAG GAA	DHX58	ENSG00000108771.13	transcript	ENST00000251642.8	protein_coding		2798		chr17	TogoVar
DIP2A_chr21_46453891_46575015	46503596	CTTCCTTC others(30): Show CTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	374	0.0027	-37	c.656 others(52): Show c.656-758_656-722delCCTTCCTTCCTTTCTTTCTTTCTTTCTTTC TTTCCTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50579639	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0097 a0001c0001t0011g0097	1	284	0.0035	-37	c.101 others(56): Show c.101-46335_101-46299delAAAAATATATATATATATATATATAT ATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579641	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02074.hp1 HG00609.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0156 a0001c0001t0001g0120 a0001c0001t0001g0156	2	284	0.0070	-37	c.101 others(56): Show c.101-46333_101-46297delAAATATATATATATATATATATATAT ATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02132.hp2 HG03225.hp1 others(1): Show HG00741.hp1 HG02132.hp2 HG03225.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0166 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0004t0005g0279	4	284	0.0141	-37	c.101 others(56): Show c.101-46331_101-46295delATATATATATATATATATATATATAT ATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579645	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02922.hp2 NA18999.hp1 others(1): Show HG02129.hp1 HG02922.hp2 NA18999.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0014 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0003t0002 a0001c0004t0005	a0001c0001t0001g0130 a0001c0001t0014g0172 a0001c0003t0002g0016 others(1): Show a0001c0001t0001g0130 a0001c0001t0014g0172 a0001c0003t0002g0016 a0001c0004t0005g0278	4	284	0.0141	-37	c.101 others(56): Show c.101-46330_101-46294delTATATATATATATATATATATATATA TATATATATAT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar
DIP2C_chr10_269201_694668	439236	CTTGCTAG others(30): Show CTTGCTAGCACGGCGTTCACTCCCTTGCCCGCTAGCAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	-37	c.394 others(54): Show c.394+1598_394+1634delATGCTAGCGGGCAAGGGAGTGAACGCCG TGCTAGCAA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	475843	TGACCGCA others(30): Show TGACCGCACAGGGCCCAGGGGCAGCAGAGGGGCATACC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	88	0.0114	-37	c.158 others(54): Show c.158-3331_158-3295delGGTATGCCCCTCTGCTGCCCCTGGGCCC TGTGCGGTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIXDC1_chr11_111932343_112027653	112026855	CGGGCAGA others(30): Show CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0164 a0001c0003t0036g0164	1	278	0.0036	-37	c.78 others(48): Show c.7820_*7856delGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCT	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding		4203		chr11	TogoVar
DIXDC1_chr11_111932343_112027653	112027276	TAGAGGCG others(30): Show TAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01109.hp2 others(20): Show HG00738.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0003 a0001c0001t0016 a0004c0009t0003 a0001c0001t0003 a0001c0001t0016 a0004c0009t0003	a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0018 others(19): Show a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0170 a0001c0001t0016g0136 a0001c0001t0016g0171 a0004c0009t0003g0275	23	278	0.0827	-37	c.82 others(48): Show c.8241_*8277delAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGG GGC	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding		4624		chr11	TogoVar
DLAT_chr11_112020408_112069404	112026855	CGGGCAGA others(30): Show CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0191 a0003c0003t0014g0191	1	336	0.0030	-37	c.381 others(52): Show c.381+566_381+602delGGCTCCTCACTTCCCAGTAGGGGCGGCTGG GCAGAGG	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DLAT_chr11_112020408_112069404	112027276	TAGAGGCG others(30): Show TAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01109.hp1 others(22): Show HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01243.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0007 a0003c0003t0004 a0003c0003t0007	a0003c0003t0004g0008 a0003c0003t0004g0009 a0003c0003t0004g0010 others(22): Show a0003c0003t0004g0008 a0003c0003t0004g0009 a0003c0003t0004g0010 a0003c0003t0004g0011 a0003c0003t0004g0012 a0003c0003t0004g0013 a0003c0003t0004g0014 a0003c0003t0004g0015 a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0018 a0003c0003t0004g0019 a0003c0003t0004g0020 a0003c0003t0004g0021 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0004g0320 a0003c0003t0004g0321 a0003c0003t0004g0322 a0003c0003t0004g0323 a0003c0003t0004g0324 a0003c0003t0007g0037 a0003c0003t0007g0038 a0003c0003t0007g0039 a0003c0003t0007g0040	25	336	0.0744	-37	c.381 others(53): Show c.381+989_381+1025delTCACATCCCAGACGGGGCGGCGGGGCAGA GGCGCTCC	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DLG1_chr3_197037560_197303612	197301657	TGGAGCTG others(30): Show TGGAGCTGGCTACCACATCATCACAACATACAAAGCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	332	0.0030	-37	c.-31 others(48): Show c.-3190_-3154delTTGCTTTGTATGTTGTGATGATGTGGTAGCCAGC TCC	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding		3046		chr3	TogoVar
DLG2_chr11_83450173_85632344	83753819	TATTTCAT others(30): Show TATTTCATATATATATGATATATATCATATATATCATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	14	0.0714	-37	c.182 others(58): Show c.1825+32834_1825+32870delTATGATATATATGATATATATCAT ATATATATGAAAT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	18/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	939052	CTGCCTGG others(30): Show CTGCCTGGGAGTGGGAGGTGCAGACACAGGGGCTGGGG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0031 a0003c0005t0002g0031	1	40	0.0250	-37	c.73+ others(54): Show c.73+31189_73+31225delGGGCTGGGGTGCCTGGGAGTGGGAGGTG CAGACACAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	939267	GAGGGGCT others(30): Show GAGGGGCTGGGGTGCCTGGGAGTTGGAGGTGCAGACAC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp2 HG02922.hp1 others(2): Show HG02647.hp2 HG02895.hp2 HG02922.hp1 HG03516.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0002c0007 others(1): Show a0001c0003 a0002c0001 a0002c0007 a0003c0005	a0001c0003t0001 a0001c0003t0013 a0002c0001t0002 others(2): Show a0001c0003t0001 a0001c0003t0013 a0002c0001t0002 a0002c0007t0008 a0003c0005t0002	a0001c0003t0001g0026 a0001c0003t0013g0007 a0002c0001t0002g0013 others(2): Show a0001c0003t0001g0026 a0001c0003t0013g0007 a0002c0001t0002g0013 a0002c0007t0008g0040 a0003c0005t0002g0031	5	40	0.1250	-37	c.73+ others(54): Show c.73+31324_73+31360delTGGAGGTGCAGACACAGGGGCTGGGGTG CCTGGGAGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	939742	GTGGGAGG others(30): Show GTGGGAGGTGCAGACACAGGGGCTGGGGTGCCTGGGAT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	-37	c.73+ others(54): Show c.73+31813_73+31849delTTGGGAGGTGCAGACACAGGGGCTGGGG TGCCTGGGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1043282	TGGGTGGT others(30): Show TGGGTGGTGGGTGTGGGTGGTGGGTGTGGGTGATGGAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02258.hp2 HG02698.hp2 others(3): Show HG01496.hp1 HG02258.hp2 HG02698.hp2 HG02922.hp2 HG02976.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0004c0008	a0001c0002t0001 a0001c0003t0006 a0002c0001t0019 others(3): Show a0001c0002t0001 a0001c0003t0006 a0002c0001t0019 a0002c0004t0003 a0002c0004t0018 a0004c0008t0016	a0001c0002t0001g0015 a0001c0003t0006g0033 a0002c0001t0019g0030 others(3): Show a0001c0002t0001g0015 a0001c0003t0006g0033 a0002c0001t0019g0030 a0002c0004t0003g0009 a0002c0004t0018g0010 a0004c0008t0016g0029	6	40	0.1500	-37	c.73+ others(56): Show c.73+135318_73+135354delGGTGGTGGGTGTGGGTGGTGGGTGTG GGTGATGGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1098613	GCGCCGCC others(30): Show GCGCCGCCACCCACGCCAGGCTCCCGGCCGCCCACGGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	-37	c.74- others(56): Show c.74-160201_74-160165delACGCCGCCACCCACGCCAGGCTCCCG GCCGCCCACGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1110194	ATGTGCTG others(30): Show ATGTGCTGGATCTGTGAGGTGTGCATGGGTCTGTGACG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02258.hp1 HG02074.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0020 a0002c0001t0005 a0002c0001t0020	a0002c0001t0005g0028 a0002c0001t0020g0024 a0002c0001t0005g0028 a0002c0001t0020g0024	2	40	0.0500	-37	c.74- others(56): Show c.74-148632_74-148596delTGGGTCTGTGACGTGTGCTGGATCTG TGAGGTGTGCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP4_chr20_36301339_36533633	36310183	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp1 HG01884.hp2 others(17): Show HG01261.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0032 a0001c0002t0004 a0001c0002t0012 a0001c0006t0002	a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0133 others(17): Show a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0013g0130 a0001c0001t0017g0141 a0001c0001t0023g0138 a0001c0001t0032g0132 a0001c0002t0004g0127 a0001c0002t0012g0126 a0001c0006t0002g0129	20	144	0.1389	-37	c.-30 others(56): Show c.-304+3672_-304+3708delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12			chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36396503	TACACACA others(30): Show TACACACACACCACATACATACACGTGCACACACACGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02040.hp1 HG02074.hp2 others(8): Show HG00280.hp2 HG02040.hp1 HG02074.hp2 HG02683.hp1 HG02965.hp2 HG03195.hp1 HG03492.hp1 HG04204.hp1 NA18950.hp2 NA19005.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0020 a0001c0005t0001 a0002c0003t0002	a0001c0001t0001g0037 a0001c0001t0001g0104 a0001c0001t0002g0043 others(8): Show a0001c0001t0001g0037 a0001c0001t0001g0104 a0001c0001t0002g0043 a0001c0001t0003g0029 a0001c0001t0003g0040 a0001c0001t0003g0102 a0001c0001t0003g0107 a0001c0001t0010g0041 a0001c0001t0020g0078 a0001c0005t0001g0042 a0002c0003t0002g0036	11	144	0.0764	-37	c.-73 others(56): Show c.-73+29243_-73+29279delTACATACACGTGCACACACACGCACA CACACACCACA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLL1_chr6_170277206_170296078	170282772	CCACGAGG others(30): Show CCACGAGGCCTCCCTCCTCTTCAGCAGCATTCGTTGGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0095 a0001c0001t0010g0095	1	413	0.0024	-37	c.65 others(45): Show c.65_*101delCCCAACGAATGCTGCTGAAGAGGAGGGAGGCCTCGTG	DLL1	ENSG00000198719.9	transcript	ENST00000366756.4	protein_coding	11/11	65		chr6	TogoVar
DMXL2_chr15_51442791_51627771	51623901	TTGAGGCA others(30): Show TTGAGGCAGATGATTTATAGGGTAGGGAAAGTAAATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	346	0.0029	-37	c.-13 others(48): Show c.-1393_-1357delTTATTTACTTTCCCTACCCTATAAATCATCTGCC TCA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding		1131		chr15	TogoVar
DNAAF3_chr19_55153665_55171613	55158198	GCCCCAGC others(30): Show GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG03579.hp2 others(1): Show HG01884.hp1 HG03209.hp2 HG03579.hp2 NA18522.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0056 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0056 a0004c0005t0001g0163 a0004c0005t0001g0164	4	398	0.0101	-37	c.82 others(46): Show c.827_*863delGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG G	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		466		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55158373	CAGGAGTC others(30): Show CAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01243.hp1 others(26): Show HG00735.hp2 HG00741.hp1 HG01243.hp1 HG02055.hp1 HG02145.hp1 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0030 a0002c0003t0001g0031 others(13): Show a0002c0003t0001g0009 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0107 a0002c0003t0001g0118 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0157 a0002c0003t0001g0158	29	398	0.0729	-37	c.65 others(46): Show c.652_*688delCGGTCTGAGGGGAGAGGGATTGGGGTCCTGGACTCC T	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		291		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55159766	GAGGAGGG others(30): Show GAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp1 others(125): Show HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18960.hp2 NA18963.hp2 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18990.hp1 NA18997.hp2 NA19000.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19068.hp2 NA19080.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0004 a0001c0010 a0002c0003 others(2): Show a0001c0004 a0001c0010 a0002c0003 a0004c0005 a0006c0014	a0001c0004t0001 a0001c0010t0001 a0002c0003t0001 others(3): Show a0001c0004t0001 a0001c0010t0001 a0002c0003t0001 a0002c0003t0004 a0004c0005t0001 a0006c0014t0001	a0001c0004t0001g0004 a0001c0004t0001g0005 a0001c0004t0001g0015 others(67): Show a0001c0004t0001g0004 a0001c0004t0001g0005 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0022 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0036 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0063 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0073 a0001c0004t0001g0075 a0001c0004t0001g0102 a0001c0004t0001g0103 a0001c0004t0001g0117 a0001c0004t0001g0144 a0001c0004t0001g0156 a0001c0010t0001g0068 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0024 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0037 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0072 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0092 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0107 a0002c0003t0001g0118 a0002c0003t0001g0120 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0004g0059 a0004c0005t0001g0056 a0004c0005t0001g0163 a0004c0005t0001g0164 a0006c0014t0001g0091	128	398	0.3216	-37	c.116 others(53): Show c.1163+96_1163+132delTGCTTAGACCCAGGGGTCCAGGCCCCCAG CCCCTCCT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding	10/11			chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55445986	ATCCCAGA others(30): Show ATCCCAGACGGGGTGGCCGGGCAGAGGCGCTCCTCACC	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	338	0.0030	-37	c.783 others(54): Show c.783+4199_783+4235delGGTGAGGAGCGCCTCTGCCCGGCCACCC CGTCTGGGA	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9			chr15	TogoVar
DNAAF4_chr15_55425308_55513234	55446467	GGGCAGAG others(30): Show GGGCAGAGGTGCTCCTCACATCCTAGACGGGGTGGCCA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18981.hp1 NA18971.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0074 a0002c0002t0001g0076	2	338	0.0059	-37	c.783 others(54): Show c.783+3718_783+3754delTGGCCACCCCGTCTAGGATGTGAGGAGC ACCTCTGCC	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9			chr15	TogoVar
DNAH11_chr7_21538039_21906839	21803825	GTCATCAT others(30): Show GTCATCATTGAAGTCTGGAAAAGTGGGGAATGGGGCTA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp1 NA18977.hp2 HG02280.hp2 HG03516.hp1 NA18977.hp2	a0035 a0084 a0167 a0035 a0084 a0167	a0035c0198 a0084c0163 a0167c0192 a0035c0198 a0084c0163 a0167c0192	a0035c0198t0002 a0084c0163t0005 a0167c0192t0005 a0035c0198t0002 a0084c0163t0005 a0167c0192t0005	a0035c0198t0002g0143 a0084c0163t0005g0088 a0167c0192t0005g0197 a0035c0198t0002g0143 a0084c0163t0005g0088 a0167c0192t0005g0197	3	298	0.0101	-37	c.101 others(58): Show c.10165+2624_10165+2660delATCATCATTGAAGTCTGGAAAAGT GGGGAATGGGGCT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	62/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH14_chr1_224924675_225404286	225078832	CTCTCTCT others(30): Show CTCTCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0026 a0026	a0026c0020 a0026c0020	a0026c0020t0001 a0026c0020t0001	a0026c0020t0001g0009 a0026c0020t0001g0009	1	240	0.0042	-37	c.242 others(54): Show c.2425-374_2425-338delTCTCTCTCTCCCTCTCTCTCTCTCTCCC TCTCTCTCT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85			chr1	TogoVar
DNAH17_chr17_78418697_78582396	78465686	CTGCCCGG others(30): Show CTGCCCGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01123.hp2 HG03209.hp2 HG00558.hp2 HG01123.hp2 HG03209.hp2	a0104 a0108 a0133 a0104 a0108 a0133	a0104c0072 a0108c0183 a0133c0202 a0104c0072 a0108c0183 a0133c0202	a0104c0072t0001 a0108c0183t0002 a0133c0202t0002 a0104c0072t0001 a0108c0183t0002 a0133c0202t0002	a0104c0072t0001g0132 a0108c0183t0002g0092 a0133c0202t0002g0119 a0104c0072t0001g0132 a0108c0183t0002g0092 a0133c0202t0002g0119	3	252	0.0119	-37	c.894 others(54): Show c.8940+932_8940+968delAGGCTCCTCACTTCTCAGACGGGGCGGT TGCCGGGCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	56/80			chr17	TogoVar
DNAH6_chr2_84511498_84824589	84553360	TTTTCTTT others(30): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02698.hp1 HG03492.hp2 HG01106.hp1 HG02698.hp1 HG03492.hp2	a0003 a0018 a0003 a0018	a0003c0002 a0018c0023 a0003c0002 a0018c0023	a0003c0002t0001 a0018c0023t0001 a0003c0002t0001 a0018c0023t0001	a0003c0002t0001g0008 a0003c0002t0001g0009 a0018c0023t0001g0010 a0003c0002t0001g0008 a0003c0002t0001g0009 a0018c0023t0001g0010	3	116	0.0259	-37	c.160 others(54): Show c.1602+334_1602+370delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	10/76		INFO_REALIGN_3_PRIME	chr2	TogoVar
DNAJB1_chr19_14509769_14523397	14520449	AAGTTACA others(30): Show AAGTTACATAAATAACTATCAGGAGCATCATGGCGGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	350	0.0029	-37	c.-21 others(48): Show c.-2137_-2101delATCCGCCATGATGCTCCTGATAGTTATTTATGTA ACT	DNAJB1	ENSG00000132002.9	transcript	ENST00000254322.3	protein_coding		2053		chr19	TogoVar
DNAJB6_chr7_157332004_157422439	157411333	TTCCCTGC others(30): Show TTCCCTGCACTGAGCGGGCGTGGGGAAGGTTCCCAGGA	T T	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19084.hp1 NA19082.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0147 a0001c0005t0001g0148 a0001c0001t0001g0147 a0001c0005t0001g0148	2	372	0.0054	-37	c.898 others(54): Show c.898+1390_898+1426delGGGGAAGGTTCCCAGGATCCCTGCACTG AGCGGGCGT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC11_chr1_6629170_6706816	6705405	CCTCAAGT others(30): Show CCTCAAGTGATCTGATCACCTTGGCCACCCAAAGTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0303 a0001c0002t0003g0303	1	366	0.0027	-37	c.-36 others(48): Show c.-3642_-3606delAGCACTTTGGGTGGCCAAGGTGATCAGATCACTT GAG	DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding		3590		chr1	TogoVar
DNAJC13_chr3_132412502_132544032	132471498	TGCCAGGC others(30): Show TGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	318	0.0031	-37	c.220 others(56): Show c.2209-1643_2209-1607delAGGCAGAGGGTCTCCTCACTTCTCAG ACGGGGCGGCC	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNER_chr2_229352629_229719555	229554909	AGAGAAGA others(30): Show AGAGAAGAGAAGAGAAGAGAAGAGAAGAGAGAAAAGGG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	176	0.0057	-37	c.848 others(54): Show c.848-7854_848-7818delCCCTTTTCTCTCTTCTCTTCTCTTCTCT TCTCTTCTC	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229672651	TGAGAGAG others(30): Show TGAGAGAGAGGAATTAAGGGAGAGATATGAGATAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	176	0.0057	-37	c.276 others(56): Show c.276+41460_276+41496delTCTCTATCTCATATCTCTCCCTTAAT TCCTCTCTCTC	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNMBP_chr10_99870577_100014947	99891645	TGTGAGGA others(30): Show TGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	274	0.0037	-37	c.315 others(56): Show c.3157-2729_3157-2693delTTTCCAGACTGGGCAGCCAGGCAGAG GGGCTCCTCAC	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	11/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99891805	GGGAGCGC others(30): Show GGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATGTGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	274	0.0037	-37	c.315 others(56): Show c.3157-2889_3157-2853delTCACATCCCAGATGGGGCGGCGGGGC AGAGGCGCTCC	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	11/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99891969	GCCTCTGC others(30): Show GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0216 a0001c0006t0009g0217 a0001c0006t0009g0216 a0001c0006t0009g0217	2	274	0.0073	-37	c.315 others(56): Show c.3156+2940_3156+2976delGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGG	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	11/16			chr10	TogoVar
DOC2B_chr17_137789_186650	154261	CGCTACAC others(30): Show CGCTACACTCCTTCTTAGGGCTGATATTCCACGCACCT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	339	0.0030	-37	c.923 others(54): Show c.923+1922_923+1958delAGGTGCGTGGAATATCAGCCCTAAGAAG GAGTGTAGC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	6/8			chr17	TogoVar
DOCK10_chr2_224760090_225047468	225035534	GATATATA others(30): Show GATATATATTATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	172	0.0058	-37	c.123 others(54): Show c.123+6681_123+6717delATATATATATATATATATATATATATAT AATATATAT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK5_chr8_25179689_25420711	25217033	AATATGTG others(30): Show AATATGTGTATACATGTATAGATGTATACAATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19240.hp2 HG02809.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0051 a0001c0004t0052 a0001c0004t0051 a0001c0004t0052	a0001c0004t0051g0174 a0001c0004t0052g0172 a0001c0004t0051g0174 a0001c0004t0052g0172	2	210	0.0095	-37	c.44- others(54): Show c.44-26634_44-26598delGTATACATGTATAGATGTATACAATATG TATATATGT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK6_chr19_11194295_11267524	11211558	CCCTGTCC others(30): Show CCCTGTCCCCCTCACCTGTCTGCTCAGCTGTCTGCTCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(181): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19082.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011 a0012 a0013 a0015 a0017 a0018 a0020 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0032 a0033	a0001c0002 a0001c0004 a0001c0007 others(47): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0012 a0001c0016 a0001c0030 a0001c0032 a0001c0034 a0001c0036 a0001c0039 a0001c0046 a0001c0048 a0001c0049 a0001c0050 a0001c0053 a0001c0059 a0001c0076 a0002c0003 a0002c0010 a0002c0022 a0002c0023 a0002c0062 a0002c0063 a0002c0070 a0003c0005 a0003c0060 a0004c0037 a0005c0009 a0005c0066 a0007c0015 a0008c0028 a0011c0019 a0012c0029 a0012c0033 a0013c0025 a0015c0073 a0017c0072 a0018c0067 a0020c0065 a0022c0061 a0023c0058 a0024c0056 a0025c0057 a0027c0055 a0028c0045 a0029c0052 a0030c0054 a0032c0051 a0033c0026	a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 others(48): Show a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0001c0012t0001 a0001c0016t0001 a0001c0030t0001 a0001c0032t0001 a0001c0034t0002 a0001c0036t0001 a0001c0039t0001 a0001c0046t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0053t0001 a0001c0059t0001 a0001c0076t0001 a0002c0003t0001 a0002c0003t0003 a0002c0010t0001 a0002c0022t0001 a0002c0023t0001 a0002c0062t0001 a0002c0063t0001 a0002c0070t0001 a0003c0005t0001 a0003c0060t0001 a0004c0037t0001 a0005c0009t0001 a0005c0066t0001 a0007c0015t0001 a0008c0028t0001 a0011c0019t0001 a0012c0029t0001 a0012c0033t0001 a0013c0025t0001 a0015c0073t0001 a0017c0072t0001 a0018c0067t0001 a0020c0065t0001 a0022c0061t0001 a0023c0058t0001 a0024c0056t0001 a0025c0057t0001 a0027c0055t0001 a0028c0045t0001 a0029c0052t0001 a0030c0054t0001 a0032c0051t0001 a0033c0026t0004	a0001c0002t0001g0003 a0001c0002t0001g0023 a0001c0002t0001g0047 others(178): Show a0001c0002t0001g0003 a0001c0002t0001g0023 a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0138 a0001c0002t0001g0148 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0184 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0300 a0001c0004t0001g0036 a0001c0004t0001g0216 a0001c0004t0001g0261 a0001c0004t0001g0262 a0001c0007t0001g0186 a0001c0007t0001g0198 a0001c0008t0001g0001 a0001c0008t0001g0027 a0001c0008t0001g0028 a0001c0008t0001g0029 a0001c0008t0001g0030 a0001c0008t0001g0031 a0001c0008t0001g0032 a0001c0008t0001g0033 a0001c0008t0001g0034 a0001c0012t0001g0057 a0001c0012t0001g0137 a0001c0012t0001g0147 a0001c0012t0001g0163 a0001c0012t0001g0188 a0001c0012t0001g0236 a0001c0016t0001g0005 a0001c0016t0001g0010 a0001c0016t0001g0013 a0001c0030t0001g0293 a0001c0032t0001g0194 a0001c0034t0002g0310 a0001c0036t0001g0016 a0001c0039t0001g0222 a0001c0046t0001g0284 a0001c0048t0001g0279 a0001c0049t0001g0144 a0001c0050t0001g0195 a0001c0053t0001g0196 a0001c0059t0001g0139 a0001c0076t0001g0185 a0002c0003t0001g0006 a0002c0003t0001g0022 a0002c0003t0001g0058 a0002c0003t0001g0062 a0002c0003t0001g0066 a0002c0003t0001g0068 a0002c0003t0001g0070 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0081 a0002c0003t0001g0083 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0096 a0002c0003t0001g0100 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0109 a0002c0003t0001g0115 a0002c0003t0001g0127 a0002c0003t0001g0140 a0002c0003t0001g0146 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0159 a0002c0003t0001g0161 a0002c0003t0001g0166 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0003g0308 a0002c0010t0001g0064 a0002c0010t0001g0080 a0002c0010t0001g0111 a0002c0010t0001g0126 a0002c0010t0001g0130 a0002c0010t0001g0133 a0002c0010t0001g0135 a0002c0010t0001g0142 a0002c0022t0001g0046 a0002c0022t0001g0219 a0002c0023t0001g0108 a0002c0023t0001g0158 a0002c0062t0001g0060 a0002c0063t0001g0059 a0002c0070t0001g0063 a0003c0005t0001g0011 a0003c0005t0001g0020 a0003c0005t0001g0021 a0003c0005t0001g0026 a0003c0005t0001g0035 a0003c0005t0001g0037 a0003c0005t0001g0040 a0003c0005t0001g0048 a0003c0005t0001g0079 a0003c0005t0001g0181 a0003c0005t0001g0183 a0003c0005t0001g0205 a0003c0005t0001g0230 a0003c0005t0001g0231 a0003c0005t0001g0237 a0003c0060t0001g0024 a0004c0037t0001g0171 a0005c0009t0001g0002 a0005c0009t0001g0067 a0005c0009t0001g0071 a0005c0009t0001g0072 a0005c0009t0001g0102 a0005c0009t0001g0103 a0005c0009t0001g0113 a0005c0009t0001g0143 a0005c0009t0001g0154 a0005c0066t0001g0189 a0007c0015t0001g0049 a0007c0015t0001g0053 a0007c0015t0001g0054 a0008c0028t0001g0075 a0011c0019t0001g0018 a0011c0019t0001g0019 a0012c0029t0001g0297 a0012c0033t0001g0050 a0013c0025t0001g0132 a0015c0073t0001g0306 a0017c0072t0001g0099 a0018c0067t0001g0110 a0020c0065t0001g0160 a0022c0061t0001g0106 a0023c0058t0001g0225 a0024c0056t0001g0164 a0025c0057t0001g0187 a0027c0055t0001g0288 a0028c0045t0001g0014 a0029c0052t0001g0227 a0030c0054t0001g0287 a0032c0051t0001g0254 a0033c0026t0004g0136	184	314	0.5860	-37	c.475 others(54): Show c.4751+181_4751+217delTGAGCAGACAGCTGAGCAGACAGGTGAG GGGGACAGG	DOCK6	ENSG00000130158.14	transcript	ENST00000294618.12	protein_coding	37/47			chr19	TogoVar
DOK7_chr4_3458306_3499482	3490396	GTCCTTCT others(30): Show GTCCTTCTTTCACCCCCCCCACCGCCCCGCTCATTCAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01071.hp1 others(36): Show HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01258.hp1 HG01261.hp2 HG01884.hp2 HG01934.hp2 HG02004.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18966.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 a0001c0001t0030 a0001c0001t0031 a0002c0002t0001 a0004c0007t0011	a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0016 others(32): Show a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0049 a0001c0001t0002g0121 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0157 a0001c0001t0002g0170 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0316 a0001c0001t0002g0367 a0001c0001t0005g0038 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0115 a0001c0001t0005g0199 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0012g0010 a0001c0001t0016g0042 a0001c0001t0030g0114 a0001c0001t0031g0117 a0002c0002t0001g0339 a0004c0007t0011g0100 a0004c0007t0011g0189	39	404	0.0965	-37	c.772 others(52): Show c.772+607_772+643delTTTCACCCCCCCCACCGCCCCGCTCATTCA TTCCTTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DONSON_chr21_33572551_33593684	33577665	ACACACAC others(30): Show ACACACACACACACACACACACACACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp2 HG04228.hp2 HG01515.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0122 a0001c0001t0077 a0001c0001t0122	a0001c0001t0077g0275 a0001c0001t0122g0288 a0001c0001t0077g0275 a0001c0001t0122g0288	2	426	0.0047	-37	c.60 others(46): Show c.605_*641delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	605		chr21	TogoVar

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