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
DDX50_chr10_68896315_68951847	68942886	GCTGGGAT others(17): Show GCTGGGATTACAGGCATGAACTACC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	334	0.0030	-24	c.189 others(41): Show c.1891-326_1891-303delCTGGGATTACAGGCATGAACTACC	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	13/14			chr10	TogoVar
DDX51_chr12_132131594_132149319	132131859	GTAATGAT others(17): Show GTAATGATCTCTCAGTCGGGATCAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	334	0.0030	-24	c.73 others(35): Show c.7389_*7412delATGATCCCGACTGAGAGATCATTA	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4734		chr12	TogoVar
DDX52_chr17_37604739_37648446	37629228	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0240 a0002c0002t0036g0240	1	411	0.0024	-24	c.748 others(39): Show c.748-580_748-557delGTGTGTGTGTGTGTGTGTGTGTGT	DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding	5/14			chr17	TogoVar
DDX54_chr12_113152173_113190478	113188787	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG03225.hp2 HG02572.hp2 HG02647.hp2 HG03225.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0021 a0001c0001 a0015c0021	a0001c0001t0001 a0015c0021t0001 a0001c0001t0001 a0015c0021t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0015c0021t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0015c0021t0001g0087	3	306	0.0098	-24	c.-33 others(35): Show c.-3360_-3337delAAAAAAAAAAAAAAAAAAAAAAAA	DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding		3310		chr12	TogoVar
DDX60_chr4_168211294_168323752	168238106	GTATTATT others(17): Show GTATTATTACAAAAATAATGTAACT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	270	0.0037	-24	c.416 others(41): Show c.4165-335_4165-312delAGTTACATTATTTTTGTAATAATA	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	30/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168297297	CGAAAGAA others(17): Show CGAAAGAAAGAAAGAAAGAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01258.hp1 HG02723.hp2 others(4): Show HG00438.hp2 HG01258.hp1 HG02723.hp2 HG03688.hp2 NA18612.hp1 NA18612.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0001 a0001c0033t0001 a0001c0001t0001 a0001c0033t0001	a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0257 a0001c0033t0001g0062	7	270	0.0259	-24	c.724 others(41): Show c.724-3376_724-3353delTTTCTTTCTTTCTTTCTTTCTTTC	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168297362	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	270	0.0037	-24	c.724 others(41): Show c.724-3441_724-3418delTTCTCTTTCTTTCTTTCTTTCTTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DDX6_chr11_118742763_118796164	118754364	ACCACTGC others(17): Show ACCACTGCACTCCAGCCTGGATGAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18612.hp2 NA18983.hp1 HG00408.hp1 NA18612.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0068 a0001c0001t0038 a0001c0001t0068	a0001c0001t0038g0218 a0001c0001t0038g0219 a0001c0001t0068g0220 a0001c0001t0038g0218 a0001c0001t0038g0219 a0001c0001t0068g0220	3	370	0.0081	-24	c.7+ others(37): Show c.7+317_*7+340delGTCATCCAGGCTGGAGTGCAGTGG	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	13/13			chr11	TogoVar
DEDD2_chr19_42193598_42222677	42195063	GAGGGAGG others(17): Show GAGGGAGGAAGGAAGGGAGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	252	0.0040	-24	c.43 others(35): Show c.4351_*4374delTCCTCCCTCCCTTCCTTCCTCCCT	DEDD2	ENSG00000160570.14	transcript	ENST00000596251.6	protein_coding		3534		chr19	TogoVar
DEFA1_chr8_6972649_6985092	6974207	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02258.hp2 others(2): Show HG02109.hp1 HG02145.hp2 HG02258.hp2 HG03239.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0003 a0002c0006t0002 a0002c0002t0003 a0002c0006t0002	a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0053 others(1): Show a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0053 a0002c0006t0002g0040	5	408	0.0123	-24	c.35 others(35): Show c.3539_*3562delGAAAGAAAGAAAGAAAGAAAGAAA	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		3441		chr8	TogoVar
DEFB123_chr20_31435632_31455257	31450548	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	372	0.0027	-24	c.37 others(33): Show c.375_*398delTATATATATATATATATATATATT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		292		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450550	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02165.hp1 NA18951.hp1 others(4): Show HG00621.hp2 HG02165.hp1 NA18951.hp1 NA18951.hp2 NA18974.hp2 NA18998.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0103 a0001c0001t0001g0117	7	372	0.0188	-24	c.37 others(33): Show c.377_*400delTATATATATATATATATATATTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		294		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450558	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG04199.hp1 HG02109.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0141 a0001c0001t0001g0006 a0001c0001t0001g0141	2	372	0.0054	-24	c.38 others(33): Show c.385_*408delTATATATATATATTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		302		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450560	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	372	0.0027	-24	c.38 others(33): Show c.387_*410delTATATATATATTTTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		304		chr20	TogoVar
DEFB134_chr8_11988174_12005752	12001876	TTCTCTCT others(17): Show TTCTCTCTCTCTTTCTTTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG00741.hp1 others(29): Show HG00099.hp1 HG00673.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01261.hp2 HG01515.hp2 HG01993.hp1 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG02622.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG04115.hp1 NA18522.hp1 NA18944.hp2 NA18970.hp1 NA18989.hp1 NA19056.hp2 NA19060.hp2 NA19065.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0007 a0001c0002t0017	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0042 others(15): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0056 a0001c0001t0003g0067 a0001c0001t0003g0117 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0002t0007g0031 a0001c0002t0007g0125 a0001c0002t0007g0134 a0001c0002t0017g0119	32	448	0.0714	-24	c.-12 others(35): Show c.-1240_-1217delGAAAGAAAAAGAAAGAGAGAGAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1125		chr8	TogoVar
DEFB134_chr8_11988174_12005752	12001940	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03540.hp1 NA18971.hp2 HG01884.hp2 HG03540.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0004 a0001c0001t0004g0017 a0001c0001t0004g0116 a0001c0001t0003g0004 a0001c0001t0004g0017 a0001c0001t0004g0116	3	448	0.0067	-24	c.-13 others(35): Show c.-1304_-1281delGAGAAAGAAAGAAAGAAAGAAAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1189		chr8	TogoVar
DEFB134_chr8_11988174_12005752	12001944	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	448	0.0022	-24	c.-13 others(35): Show c.-1308_-1285delGAGAGAGAAAGAAAGAAAGAAAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1193		chr8	TogoVar
DEFB1_chr8_6865592_6882936	6870376	AAAAAAAA others(17): Show AAAAAAAACCAAAAAAAAAAAAACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG02055.hp2 others(12): Show HG00099.hp2 HG00323.hp2 HG02055.hp2 HG02572.hp1 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG04228.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0007 a0001c0001t0001 a0001c0001t0003 a0001c0004t0007	a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0064 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0121 a0001c0001t0003g0197 a0001c0004t0007g0043 a0001c0004t0007g0088 a0001c0004t0007g0089 a0001c0004t0007g0090	15	478	0.0314	-24	c.28 others(33): Show c.281_*304delGGTTTTTTTTTTTTTGGTTTTTTT	DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding		215		chr8	TogoVar
DEGS2_chr14_100138957_100164645	100153252	CAGATAGA others(17): Show CAGATAGATAGATAGATAGATAGAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0134 a0001c0001t0028g0134	1	440	0.0023	-24	c.83- others(39): Show c.83-3566_83-3543delATCTATCTATCTATCTATCTATCT	DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding	1/2			chr14	TogoVar
DENND1A_chr9_123374658_123935126	123538805	CATACATA others(17): Show CATACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02165.hp2 HG02273.hp2 others(3): Show HG01884.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02896.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0031 a0001c0001t0001g0144 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0003g0143 a0001c0001t0003g0157	6	162	0.0370	-24	c.993 others(43): Show c.993+18741_993+18764delATATATATATATATATATATGTAT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123538809	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	162	0.0062	-24	c.993 others(43): Show c.993+18737_993+18760delATATATATATATATATATATATAT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123674340	TCTCACAC others(17): Show TCTCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp2 HG02615.hp2 others(4): Show HG01099.hp1 HG02145.hp2 HG02615.hp2 HG03041.hp2 HG03471.hp2 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0019 a0002c0007 a0001c0001 a0001c0019 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0001c0019t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0019t0001 a0002c0007t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0004g0001 a0001c0019t0001g0136 a0002c0007t0001g0129 a0002c0007t0001g0135	7	162	0.0432	-24	c.372 others(41): Show c.372+2356_372+2379delTGTGTGTGTGTGTGTGTGTGTGAG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	6/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123740899	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp2 HG03041.hp1 HG01891.hp2 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0085 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0001g0085 a0001c0001t0008g0083 a0001c0001t0008g0084	3	162	0.0185	-24	c.302 others(43): Show c.302+16780_302+16803delTCTCTCTCTCTCTCTCTCTCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123818517	TATACACA others(17): Show TATACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18965.hp1 HG02027.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0009 a0001c0002t0004 a0001c0002t0009	a0001c0002t0004g0018 a0001c0002t0009g0037 a0001c0002t0004g0018 a0001c0002t0009g0037	2	162	0.0124	-24	c.89- others(41): Show c.89-25911_89-25888delGTGTGTGTGTGTGTGTGTGTGTAT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	2/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197501664	TATATATA others(17): Show TATATATATTTACATATATATTTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18960.hp2 NA18988.hp1 others(1): Show HG02155.hp2 NA18960.hp2 NA18988.hp1 NA18989.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0010 a0001c0002 a0008c0010	a0001c0002t0002 a0001c0002t0004 a0008c0010t0002 a0001c0002t0002 a0001c0002t0004 a0008c0010t0002	a0001c0002t0002g0109 a0001c0002t0004g0102 a0001c0002t0004g0104 others(1): Show a0001c0002t0002g0109 a0001c0002t0004g0102 a0001c0002t0004g0104 a0008c0010t0002g0103	4	280	0.0143	-24	c.87 others(35): Show c.8772_*8795delGTAAATATATATGTAAATATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding		3083		chr1	TogoVar
DENND1B_chr1_197499748_197780480	197529203	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03209.hp1 HG02622.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0034 a0001c0001t0033 a0001c0001t0034	a0001c0001t0033g0253 a0001c0001t0034g0254 a0001c0001t0033g0253 a0001c0001t0034g0254	2	280	0.0071	-24	c.151 others(45): Show c.1515+10737_1515+10760delATATATATATATATATATATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	20/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197529228	ATATATAT others(17): Show ATATATATATATATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG00673.hp2 others(45): Show HG00423.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG02083.hp1 HG02148.hp1 HG02257.hp1 HG02293.hp1 HG02602.hp1 HG02698.hp2 HG03239.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp2 NA18942.hp2 NA18943.hp1 NA18949.hp1 NA18960.hp1 NA18961.hp1 NA18967.hp2 NA18968.hp2 NA18975.hp1 NA18982.hp1 NA18986.hp1 NA19000.hp1 NA19005.hp2 NA19006.hp2 NA19062.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0011 a0001c0001t0038 others(7): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0053 a0004c0008t0030 a0004c0008t0031	a0001c0001t0001g0013 a0001c0001t0001g0059 a0001c0001t0001g0078 others(45): Show a0001c0001t0001g0013 a0001c0001t0001g0059 a0001c0001t0001g0078 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0011g0164 a0001c0001t0011g0191 a0001c0001t0011g0217 a0001c0001t0011g0220 a0001c0001t0038g0166 a0001c0001t0039g0185 a0001c0001t0040g0183 a0001c0001t0041g0182 a0001c0001t0042g0203 a0001c0001t0053g0190 a0004c0008t0030g0003 a0004c0008t0031g0002	48	280	0.1714	-24	c.151 others(45): Show c.1515+10712_1515+10735delCACACACACATATATATATATATA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	20/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197529230	ATATATAT others(17): Show ATATATATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(36): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01934.hp2 HG01993.hp1 HG02080.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02970.hp1 HG03579.hp2 NA18939.hp1 NA18941.hp1 NA18946.hp1 NA18949.hp2 NA18970.hp1 NA18975.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18998.hp1 NA19005.hp1 NA19007.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19081.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0022 a0001c0001t0028 a0001c0001t0036 a0001c0001t0048 a0001c0009t0003	a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 others(36): Show a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0201 a0001c0001t0003g0274 a0001c0001t0006g0034 a0001c0001t0006g0036 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0014g0024 a0001c0001t0014g0031 a0001c0001t0014g0032 a0001c0001t0022g0153 a0001c0001t0028g0020 a0001c0001t0028g0021 a0001c0001t0036g0033 a0001c0001t0048g0025 a0001c0009t0003g0019	39	280	0.1393	-24	c.151 others(45): Show c.1515+10710_1515+10733delCACACACACACATATATATATATA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	20/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197770820	GTAAATAT others(17): Show GTAAATATATATCTATAAATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(71): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01361.hp1 HG01496.hp2 HG01934.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp2 HG02486.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03239.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA19002.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA20129.hp2 NA20905.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0008 a0009	a0001c0001 a0001c0002 a0003c0006 others(3): Show a0001c0001 a0001c0002 a0003c0006 a0006c0011 a0008c0010 a0009c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0017 a0001c0002t0044 a0001c0002t0046 a0003c0006t0002 a0003c0006t0043 a0006c0011t0049 a0008c0010t0002 a0009c0013t0002	a0001c0001t0001g0078 a0001c0001t0003g0129 a0001c0001t0003g0132 others(71): Show a0001c0001t0001g0078 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0023g0130 a0001c0001t0023g0131 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0160 a0001c0002t0002g0277 a0001c0002t0003g0074 a0001c0002t0004g0075 a0001c0002t0004g0079 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0004g0102 a0001c0002t0004g0104 a0001c0002t0004g0113 a0001c0002t0004g0122 a0001c0002t0016g0123 a0001c0002t0016g0127 a0001c0002t0016g0128 a0001c0002t0017g0105 a0001c0002t0044g0100 a0001c0002t0046g0073 a0003c0006t0002g0091 a0003c0006t0043g0092 a0006c0011t0049g0111 a0008c0010t0002g0103 a0009c0013t0002g0126	74	280	0.2643	-24	c.82+ others(39): Show c.82+2024_82+2047delTATATATTTATAGATATATATTTA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	2/22			chr1	TogoVar
DENND3_chr8_141123589_141200804	141145803	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01123.hp2 HG01496.hp2 others(9): Show HG00673.hp2 HG01123.hp2 HG01496.hp2 HG02074.hp1 HG02735.hp1 NA18906.hp2 NA18955.hp2 NA18974.hp1 NA19043.hp1 NA19087.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0002 others(3): Show a0001c0003 a0002c0001 a0002c0002 a0002c0010 a0002c0015 a0002c0074	a0001c0003t0005 a0002c0001t0001 a0002c0001t0004 others(5): Show a0001c0003t0005 a0002c0001t0001 a0002c0001t0004 a0002c0002t0003 a0002c0010t0001 a0002c0010t0004 a0002c0015t0002 a0002c0074t0002	a0001c0003t0005g0021 a0002c0001t0001g0026 a0002c0001t0001g0058 others(9): Show a0001c0003t0005g0021 a0002c0001t0001g0026 a0002c0001t0001g0058 a0002c0001t0001g0148 a0002c0001t0004g0016 a0002c0002t0003g0041 a0002c0010t0001g0307 a0002c0010t0004g0356 a0002c0010t0004g0357 a0002c0015t0002g0221 a0002c0015t0002g0306 a0002c0074t0002g0305	12	390	0.0308	-24	c.735 others(41): Show c.735+1568_735+1591delATATATATATATATATATATATAT	DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
DENND3_chr8_141123589_141200804	141145827	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp2 HG03195.hp2 others(2): Show HG02970.hp2 HG03041.hp2 HG03195.hp2 HG03579.hp2 NA19240.hp1	a0002 a0002	a0002c0015 a0002c0024 a0002c0040 others(2): Show a0002c0015 a0002c0024 a0002c0040 a0002c0047 a0002c0071	a0002c0015t0002 a0002c0024t0002 a0002c0040t0006 others(2): Show a0002c0015t0002 a0002c0024t0002 a0002c0040t0006 a0002c0047t0001 a0002c0071t0007	a0002c0015t0002g0215 a0002c0024t0002g0170 a0002c0040t0006g0247 others(2): Show a0002c0015t0002g0215 a0002c0024t0002g0170 a0002c0040t0006g0247 a0002c0047t0001g0171 a0002c0071t0007g0248	5	390	0.0128	-24	c.735 others(41): Show c.735+1572_735+1595delATATATATATATATATATATGTAT	DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
DENND4C_chr9_19225693_19379281	19306745	GTATTTAT others(17): Show GTATTTATTTATTTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp2 HG02970.hp2 others(4): Show HG02723.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03516.hp1 NA19240.hp1 NA20129.hp1	a0004 a0025 a0004 a0025	a0004c0005 a0025c0031 a0004c0005 a0025c0031	a0004c0005t0002 a0004c0005t0011 a0025c0031t0002 a0004c0005t0002 a0004c0005t0011 a0025c0031t0002	a0004c0005t0002g0124 a0004c0005t0011g0121 a0004c0005t0011g0122 others(4): Show a0004c0005t0002g0124 a0004c0005t0011g0121 a0004c0005t0011g0122 a0004c0005t0011g0123 a0004c0005t0011g0125 a0004c0005t0011g0153 a0025c0031t0002g0078	7	292	0.0240	-24	c.148 others(43): Show c.1487+1244_1487+1267delATTTATTTATTTATTTATTTATTT	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	10/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND6B_chr22_50304030_50332012	50307787	GAGAGGGG others(17): Show GAGAGGGGGAGGGGGGAGAGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0028 a0003c0007t0028	a0003c0007t0028g0273 a0003c0007t0028g0273	1	326	0.0031	-24	c.43 others(35): Show c.4328_*4351delTCCCCCTCTCCCCCCTCCCCCTCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1242		chr22	TogoVar
DEPDC1B_chr5_60591912_60705166	60667991	TTATATAT others(17): Show TTATATATATAAAATGGATATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02723.hp1 HG00639.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0124 a0001c0001t0001g0102 a0001c0001t0001g0124	2	292	0.0069	-24	c.314 others(43): Show c.314+18947_314+18970delTAAAATATCCATTTTATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668158	ATTATATA others(17): Show ATTATATATATATAAAATGGATATT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02109.hp1 HG02145.hp2 others(12): Show HG01361.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 others(12): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0003t0001g0158 a0001c0003t0001g0159	15	292	0.0514	-24	c.314 others(43): Show c.314+18780_314+18803delAATATCCATTTTATATATATATAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC4_chr12_100235062_100272079	100244093	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	358	0.0028	-24	c.145 others(43): Show c.1454-1548_1454-1525delTATATATATATATATATATATACA	DEPDC4	ENSG00000166153.17	transcript	ENST00000550587.6	protein_coding	8/9			chr12	TogoVar
DEPDC5_chr22_31749019_31913033	31771715	TCACACAC others(17): Show TCACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG03209.hp2 others(2): Show HG02109.hp2 HG02723.hp2 HG03209.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0118 a0001c0001t0005g0094 a0001c0001t0005g0117 others(2): Show a0001c0001t0002g0118 a0001c0001t0005g0094 a0001c0001t0005g0117 a0001c0001t0005g0122 a0001c0001t0005g0125	5	204	0.0245	-24	c.413 others(41): Show c.413+2895_413+2918delCACACACACACACACACACACACA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	7/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31879097	CATATATA others(17): Show CATATATATACATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	204	0.0049	-24	c.380 others(41): Show c.3806-409_3806-386delACACATATATATATACATATATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	37/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31903180	GTTCCACA others(17): Show GTTCCACACCTAACCCCCCTCCACC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0187 a0001c0018t0003g0187	1	204	0.0049	-24	c.443 others(43): Show c.4436+1439_4436+1462delCCCCCCTCCACCTTCCACACCTAA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPTOR_chr8_119868722_120055918	119991080	TTCTTTCT others(17): Show TTCTTTCTTTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0195 a0004c0006t0009g0195	1	198	0.0051	-24	c.605 others(43): Show c.605-10443_605-10420delCTTTCTTTTTCTTTCTTTCTTTCT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120028545	CCCTTCCA others(17): Show CCCTTCCAGTGAATCAAGCAATTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0191 a0002c0005t0003g0191	1	198	0.0051	-24	c.110 others(45): Show c.1101+19416_1101+19439delTCCAGTGAATCAAGCAATTCTCCT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DES_chr2_219413377_219431734	219431548	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(318): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0004c0017	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0016t0001 a0004c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(60): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0006g0001 a0001c0001t0006g0003 a0001c0001t0007g0026 a0001c0001t0008g0006 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0009g0002 a0001c0003t0001g0019 a0001c0003t0001g0040 a0001c0005t0001g0037 a0001c0006t0001g0014 a0001c0006t0001g0029 a0001c0006t0001g0030 a0001c0007t0001g0013 a0001c0007t0001g0048 a0001c0008t0001g0001 a0001c0008t0001g0010 a0001c0010t0001g0001 a0001c0013t0001g0001 a0001c0014t0001g0047 a0001c0015t0001g0006 a0001c0016t0001g0002 a0004c0017t0001g0066	321	376	0.8537	-24	c.55 others(35): Show c.5559_*5582delTTCCTTCCTTCCTTCCTTCCTTCC	DES	ENSG00000175084.13	transcript	ENST00000373960.4	protein_coding		4815		chr2	TogoVar
DGKB_chr7_14140049_14907751	14170145	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01169.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0003 a0001c0002t0042 a0001c0003t0004 others(3): Show a0001c0002t0003 a0001c0002t0042 a0001c0003t0004 a0001c0003t0005 a0001c0003t0014 a0001c0004t0003	a0001c0002t0003g0072 a0001c0002t0042g0148 a0001c0003t0004g0012 others(6): Show a0001c0002t0003g0072 a0001c0002t0042g0148 a0001c0003t0004g0012 a0001c0003t0005g0057 a0001c0003t0005g0073 a0001c0003t0005g0124 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0004t0003g0067	9	148	0.0608	-24	c.230 others(43): Show c.2304+6670_2304+6693delCTTTCTTTCTTTCTTTCTTTCTTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	25/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14231082	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02897.hp2 HG02280.hp1 HG02486.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0003 a0001c0004t0027 a0001c0002t0001 a0001c0004t0003 a0001c0004t0027	a0001c0002t0001g0017 a0001c0004t0003g0049 a0001c0004t0027g0059 a0001c0002t0001g0017 a0001c0004t0003g0049 a0001c0004t0027g0059	3	148	0.0203	-24	c.212 others(45): Show c.2123-52955_2123-52932delAAAGAAAGAAAGAAAGAAAGAAAG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14769103	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0088 a0001c0002t0004g0088	1	148	0.0068	-24	c.71- others(41): Show c.71-11396_71-11373delCTCTTTCTTTCTTTCTTTCTTTCT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233438736	TATTTATC others(17): Show TATTTATCTGTCTATCTATCATCTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01070.hp2 others(42): Show HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01261.hp2 HG01433.hp1 HG01934.hp2 HG01981.hp2 HG02071.hp1 HG02257.hp1 HG02300.hp2 HG02602.hp2 HG02735.hp2 HG02818.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18959.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18989.hp2 NA18998.hp2 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19081.hp2 NA19088.hp2 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0002c0013 others(2): Show a0001c0001 a0001c0002 a0002c0013 a0005c0006 a0006c0015	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(5): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0012 a0001c0002t0016 a0002c0013t0004 a0005c0006t0004 a0006c0015t0004	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0099 others(42): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0002t0003g0005 a0001c0002t0003g0033 a0001c0002t0003g0076 a0001c0002t0003g0103 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0112 a0001c0002t0003g0119 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0127 a0001c0002t0003g0129 a0001c0002t0003g0248 a0001c0002t0003g0261 a0001c0002t0004g0027 a0001c0002t0004g0044 a0001c0002t0004g0078 a0001c0002t0004g0090 a0001c0002t0004g0096 a0001c0002t0004g0098 a0001c0002t0004g0104 a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0115 a0001c0002t0004g0117 a0001c0002t0004g0120 a0001c0002t0004g0123 a0001c0002t0004g0126 a0001c0002t0004g0244 a0001c0002t0012g0113 a0001c0002t0012g0114 a0001c0002t0012g0116 a0001c0002t0016g0187 a0001c0002t0016g0188 a0002c0013t0004g0097 a0005c0006t0004g0026 a0006c0015t0004g0118	45	336	0.1339	-24	c.108 others(41): Show c.1085+358_1085+381delATTTATCTGTCTATCTATCATCTA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	9/29			chr2	TogoVar
DGKD_chr2_233349494_233477098	233468229	TGGCTGCT others(17): Show TGGCTGCTGGGCTATCTCGGGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01358.hp2 HG02080.hp1 others(13): Show HG00673.hp2 HG01358.hp2 HG02080.hp1 HG02572.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp2 NA18522.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0004t0013 a0001c0004t0014 others(8): Show a0001c0001t0013 a0001c0004t0013 a0001c0004t0014 a0001c0004t0021 a0001c0004t0041 a0001c0004t0043 a0001c0004t0044 a0001c0004t0045 a0001c0004t0046 a0001c0004t0048 a0001c0004t0049	a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0004t0013g0091 others(13): Show a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0004t0013g0091 a0001c0004t0013g0128 a0001c0004t0014g0160 a0001c0004t0014g0162 a0001c0004t0014g0164 a0001c0004t0021g0121 a0001c0004t0021g0122 a0001c0004t0041g0161 a0001c0004t0043g0173 a0001c0004t0044g0166 a0001c0004t0045g0197 a0001c0004t0046g0243 a0001c0004t0048g0204 a0001c0004t0049g0163	16	336	0.0476	-24	c.342 others(41): Show c.3425-176_3425-153delGGGTGCCGGCTGCTGGGCTATCTC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKG_chr3_186142201_186367234	186275945	GATCTATC others(17): Show GATCTATCTATCTATCTATCTATCT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0009 a0003c0004t0007g0009	1	234	0.0043	-24	c.793 others(39): Show c.793-305_793-282delAGATAGATAGATAGATAGATAGAT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	9/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42207114	TCTTTCTC others(17): Show TCTTTCTCTCTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	316	0.0032	-24	c.260 others(41): Show c.2601+969_2601+992delCTTTCTCTCTCCTTCCTTCCTTCC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29			chr13	TogoVar
DGKH_chr13_42043648_42247896	42207123	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0020 a0001c0001t0060g0020	1	316	0.0032	-24	c.260 others(43): Show c.2601+1028_2601+1051delCTTCCTTCCTTCCTTCCTTCCTTC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar

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