Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TRAF2_chr9_136881516_136931607	136916670	ACTGCCTC others(113): Show ACTGCCTCCAGCCCAGTGCTTCCTGGTTTCCTTCCAGCTGCTCCTCAGCC ACCTCTGCAGCACTGCCTCCTCCTGCCCCGGCTGTCCGAGTGTTCCCAGC TTGGTCTCTGGGCTGGCAGCC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp1 HG02970.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0010	2	310	0.0065	-120	c.678 others(14): Show c.678+59_678+178del		TRAF2	ENSG00000127191.18	transcript	ENST00000247668.7	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
TRIML1_chr4_188134441_188152743	188151373	GGGGGTGA others(113): Show GGGGGTGAGAAGGGGAATGAGAGTGGGGGTGAGAGGGGGAGTGAGAGAGG GGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAG GGTGAGAAGGGGAGTGAGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	228	0.0044	-120	c.40 others(11): Show c.4002_*4121del		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					3631		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151397	GGGGGTGA others(113): Show GGGGGTGAGAGGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGG GGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	228	0.0044	-120	c.40 others(11): Show c.4026_*4145del		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					3655		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152623	GGGTGAGA others(113): Show GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGG TTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAAGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGAGGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	228	0.0044	-120	c.52 others(11): Show c.5252_*5371del		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4881		chr4	TogoVar
TRIQK_chr8_92878534_92971144	92949682	AAGAAAGA others(113): Show AAGAAAGAAAGAAAGAAAAGAGAAAGGAAGGGAGGGAGGGAGGGAGGAAG GAAGGAAGAAAGGAAGGAAAGGGAAGGAAAGAAAGAGAAGGAAAGAAAGA AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03225.hp1 NA18522.hp2 HG01081.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0097 a0001c0001t0012g0084 a0001c0001t0012g0085 a0001c0001t0001g0097 a0001c0001t0012g0084 a0001c0001t0012g0085	3	342	0.0088	-120	c.-22 others(17): Show c.-22+4604_-22+4723del		TRIQK	ENSG00000205133.12	transcript	ENST00000521988.6	protein_coding	2/4						chr8	TogoVar
TRPM4_chr19_49152792_49216836	49166425	TCCCTCTC others(113): Show TCCCTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTCCC CCTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTCCCCC TCTCTCTCTGGGTCTCTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02615.hp2 others(4): Show HG02109.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0003c0005	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0014t0001 a0003c0005t0001	a0001c0001t0001g0296 a0001c0003t0001g0101 a0001c0003t0001g0108 others(4): Show a0001c0001t0001g0296 a0001c0003t0001g0101 a0001c0003t0001g0108 a0001c0003t0002g0088 a0001c0014t0001g0102 a0003c0005t0001g0131 a0003c0005t0001g0157	7	312	0.0224	-120	c.267 others(15): Show c.267+309_267+428del		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr19	TogoVar
TSNARE1_chr8_142207080_142408182	142358044	GCAGCCAG others(113): Show GCAGCCAGCGGCCATCACTGCAAAGGGCGGCGGGGTCTGCTGGGTTTCAG GACAAGGGGAACAGCCAGCGGCCATCACTGCAAAGGGCGGCAGGGTCTGC TGGGTTTCAGGACAAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG01496.hp2 others(10): Show HG00423.hp2 HG00673.hp2 HG01496.hp2 HG02040.hp1 HG02083.hp1 HG02155.hp1 HG02622.hp1 HG02896.hp1 HG03098.hp2 HG03225.hp1 HG03486.hp1 HG03831.hp1 NA18967.hp1	a0005 a0006 a0005 a0006	a0005c0009 a0006c0005 a0005c0009 a0006c0005	a0005c0009t0001 a0005c0009t0002 a0006c0005t0001 others(1): Show a0005c0009t0001 a0005c0009t0002 a0006c0005t0001 a0006c0005t0002	a0005c0009t0001g0231 a0005c0009t0002g0234 a0005c0009t0002g0235 others(10): Show a0005c0009t0001g0231 a0005c0009t0002g0234 a0005c0009t0002g0235 a0006c0005t0001g0169 a0006c0005t0001g0170 a0006c0005t0001g0233 a0006c0005t0001g0236 a0006c0005t0002g0028 a0006c0005t0002g0069 a0006c0005t0002g0221 a0006c0005t0002g0228 a0006c0005t0002g0229 a0006c0005t0002g0237	13	238	0.0546	-120	c.-39 others(17): Show c.-39-3401_-39-3282del		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
TTC7A_chr2_46936224_47081123	46955124	TTCTGGAC others(113): Show TTCTGGACTTTGCCCTATTAATGCCTTCAGCATCGCTGTGATAGGCAGTG AGGAGTAGGTGTTATTATCTCTCCCTCACCCACGAGGAAGACGCAGCCCG AGCAGGGAGGAAATGAGCCCG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0025 a0001c0024t0002 a0001c0024t0025	a0001c0024t0002g0305 a0001c0024t0025g0306 a0001c0024t0002g0305 a0001c0024t0025g0306	2	314	0.0064	-120	c.349 others(17): Show c.349-1713_349-1594del		TTC7A	ENSG00000068724.18	transcript	ENST00000319190.11	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TXK_chr4_48061393_48139250	48104272	TAATATAT others(113): Show TAATATATAATATATATAATATATAATATAATATATAATATATATAATAT ATAATATAATATATAATATATATAATATATAATATAATATATAATATATA TAATATATAATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02615.hp2 HG02622.hp2 others(1): Show HG00642.hp2 HG02615.hp2 HG02622.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0269 a0001c0002t0001g0270 others(1): Show a0001c0002t0001g0256 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271	4	362	0.0111	-120	c.501 others(15): Show c.501+509_501+628del		TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14						chr4	TogoVar
TYMS_chr18_652653_678578	666897	TGATGGAG others(113): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGAT GGAGATGGTGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	482	0.0021	-120	c.455 others(17): Show c.455-2157_455-2038del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666999	AGATGGTG others(113): Show AGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGATGGTG ATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGAT GGAGATGGAGATGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 HG03540.hp2 HG03209.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	3	482	0.0062	-120	c.455 others(17): Show c.455-2061_455-1942del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
VAV2_chr9_133756894_133997324	133851800	AATGGATG others(113): Show AATGGATGGATGGATGGATGGATGGATGGATGGATGCACAAATGGGTGGA TGGATGGATGGATAGGTGGGTGAATAAATGGATGGATGCATGGATGGATG GATGGATGGGTGGATGGATGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0031 a0002c0001t0031	a0002c0001t0031g0103 a0002c0001t0031g0103	1	200	0.0050	-120	c.380 others(17): Show c.380+9454_380+9573del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	3/29						chr9	TogoVar
VCX3B_chrX_8459830_8471510	8466005	AGAACCAC others(113): Show AGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGA GCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTG AGTCAGGAGAGCGAGGTGGAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00741.hp2 HG01256.hp1 HG01261.hp1 others(2): Show HG00741.hp2 HG01256.hp1 HG01261.hp1 HG02738.hp1 HG03710.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0004 a0010c0011t0004	a0010c0011t0004g0002 a0010c0011t0004g0002	5	271	0.0185	-120	c.385 others(7): Show c.385_504del	p.Gln others(13): Show p.Gln129_Ser168del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	692/1175	385/741	129/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466035	GGAACCAC others(113): Show GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGA GCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTG AGTCAGGAGAGCGAGGTGGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19057.hp2 NA19057.hp2	a0078 a0078	a0078c0062 a0078c0062	a0078c0062t0003 a0078c0062t0003	a0078c0062t0003g0004 a0078c0062t0003g0004	1	271	0.0037	-120	c.415 others(7): Show c.415_534del	p.Glu others(13): Show p.Glu139_Ser178del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	722/1175	415/741	139/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466057	GAGGTGGA others(113): Show GAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAG TCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAG AACCACTGAGTCAGGAGAGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18612.hp1 NA18952.hp1 homoSapiens_chm13v2.hp1 NA18612.hp1 NA18952.hp1 homoSapiens_chm13v2.hp1	a0029 a0087 a0029 a0087	a0029c0027 a0087c0055 a0029c0027 a0087c0055	a0029c0027t0005 a0087c0055t0002 a0029c0027t0005 a0087c0055t0002	a0029c0027t0005g0005 a0087c0055t0002g0003 a0029c0027t0005g0005 a0087c0055t0002g0003	3	271	0.0111	-120	c.423 others(7): Show c.423_542del	p.Glu others(13): Show p.Glu142_Glu181del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	730/1175	423/741	141/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466117	GAGGTGGA others(113): Show GAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAG TCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAG AACCACTGAGTCAGGAGAGCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18747.hp1 NA18947.hp1 NA19009.hp1 NA18747.hp1 NA18947.hp1 NA19009.hp1	a0021 a0021	a0021c0022 a0021c0022	a0021c0022t0001 a0021c0022t0001	a0021c0022t0001g0007 a0021c0022t0001g0007	3	271	0.0111	-120	c.508 others(7): Show c.508_627del	p.Val others(13): Show p.Val170_Glu209del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	815/1175	508/741	170/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466210	GTGGAAGA others(113): Show GTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCA GGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAAC CACTGAGTCAGGAGAGCGAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02976.hp1 NA19078.hp1 HG02976.hp1 NA19078.hp1	a0054 a0082 a0054 a0082	a0054c0075 a0082c0078 a0054c0075 a0082c0078	a0054c0075t0020 a0082c0078t0004 a0054c0075t0020 a0082c0078t0004	a0054c0075t0020g0050 a0082c0078t0004g0002 a0054c0075t0020g0050 a0082c0078t0004g0002	2	271	0.0074	-120	c.595 others(7): Show c.595_714del	p.Gln others(13): Show p.Gln199_Ser238del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	902/1175	595/741	199/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466580	AGGGAGGG others(113): Show AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0005 a0016c0016t0005	a0016c0016t0005g0005 a0016c0016t0005g0005	1	271	0.0037	-120	c.19 others(9): Show c.198_*317del		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					71		chrX	TogoVar
VCX_chrX_7838171_7849143	7843856	TGAGTCAG others(113): Show TGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTG GAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGA GAGCCAGGTGGAGGAACCACC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00558.hp2 HG00639.hp2 HG00733.hp2 others(21): Show HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG02451.hp1 HG02735.hp1 HG02922.hp2 HG03490.hp1 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG06807.hp2 NA18941.hp1 NA19054.hp2 NA19055.hp1	a0004 a0059 a0067 others(1): Show a0004 a0059 a0067 a0083	a0004c0004 a0059c0057 a0067c0056 others(1): Show a0004c0004 a0059c0057 a0067c0056 a0083c0062	a0004c0004t0001 a0004c0004t0002 a0059c0057t0012 others(2): Show a0004c0004t0001 a0004c0004t0002 a0059c0057t0012 a0067c0056t0002 a0083c0062t0013	a0004c0004t0001g0001 a0004c0004t0001g0002 a0004c0004t0002g0001 others(3): Show a0004c0004t0001g0001 a0004c0004t0001g0002 a0004c0004t0002g0001 a0059c0057t0012g0001 a0067c0056t0002g0001 a0083c0062t0013g0009	24	341	0.0704	-120	c.478 others(7): Show c.478_597del	p.Val others(13): Show p.Val160_Glu199del	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding	2/2	511/781	478/621	160/206		INFO_REALIGN_3_PRIME	chrX	TogoVar
VGLL4_chr3_11551069_11648915	11605046	CCCCGCCC others(113): Show CCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAG CGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTC CATCTTCCAAAGCGCCCCACG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	388	0.0026	-120	c.83- others(15): Show c.83-3144_83-3025del		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4						chr3	TogoVar
WASHC5_chr8_125019260_125096792	125096672	GTGATCTC others(113): Show GTGATCTCAGCTCACTGCAACTGCTGCCTCCAGGATTCAAGCGATTCTTC TGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGTGTGTACCACCATGCCC AGCTAATTTTTGTATTTTCAG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	352	0.0028	-120	c.-53 others(11): Show c.-5302_-5183del		WASHC5	ENSG00000164961.16	transcript	ENST00000318410.12	protein_coding					4881		chr8	TogoVar
WFS1_chr4_6264850_6308265	6299564	GGGTTGCG others(113): Show GGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTA GGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTA GGGGTGGGTTGTTTGCGGGTA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0142 a0001c0047t0001g0142	1	390	0.0026	-120	c.862 others(16): Show c.862-1055_862-936del		WFS1	ENSG00000109501.15	transcript	ENST00000226760.5	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
WNT7B_chr22_45915366_45982162	45929375	TCCACCCA others(113): Show TCCACCCACTCACCCATCCATCCTTCCATCCACCCGTGAATCCACTCATC CATCCACCCACCCACTGATCCATCCTTTGATTCGTCCATCTACTTATCCT TCCATCTGTACATCCACCCAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02630.hp1 others(3): Show HG02258.hp2 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0020 a0001c0002t0020 a0001c0001t0019 a0001c0001t0020 a0001c0002t0020	a0001c0001t0019g0244 a0001c0001t0019g0290 a0001c0001t0019g0332 others(3): Show a0001c0001t0019g0244 a0001c0001t0019g0290 a0001c0001t0019g0332 a0001c0001t0020g0158 a0001c0001t0020g0225 a0001c0002t0020g0336	6	350	0.0171	-120	c.570 others(17): Show c.570+1603_570+1722del		WNT7B	ENSG00000188064.10	transcript	ENST00000339464.9	protein_coding	3/3						chr22	TogoVar
WNT7B_chr22_45915366_45982162	45953134	CCGGCTTC others(113): Show CCGGCTTCCCCTCACAGCCACCGTGTCCGTGCCCGGCTTCCCCTCACAGC CACCGTGTCCGTGCCTGGCTTCCCCTCACAGTCACCGTGTCCTCGGCTTC CCCTCACAGTCACCGTGTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp1 others(37): Show HG00099.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp2 HG01943.hp1 HG02071.hp2 HG02258.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03927.hp2 HG04204.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0032 a0001c0001t0039 a0001c0001t0051 a0001c0001t0058 a0001c0001t0063 a0001c0002t0001 a0001c0002t0007 a0001c0002t0018 a0001c0002t0020 a0001c0002t0030 a0001c0002t0037 a0001c0002t0052 a0001c0014t0021 a0002c0016t0009	a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0177 others(37): Show a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0245 a0001c0001t0001g0264 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0312 a0001c0001t0001g0335 a0001c0001t0001g0341 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0131 a0001c0001t0004g0171 a0001c0001t0007g0252 a0001c0001t0010g0007 a0001c0001t0013g0317 a0001c0001t0013g0318 a0001c0001t0017g0257 a0001c0001t0019g0290 a0001c0001t0019g0332 a0001c0001t0020g0225 a0001c0001t0027g0209 a0001c0001t0032g0005 a0001c0001t0039g0074 a0001c0001t0051g0307 a0001c0001t0058g0236 a0001c0001t0063g0344 a0001c0002t0001g0163 a0001c0002t0001g0224 a0001c0002t0007g0230 a0001c0002t0018g0157 a0001c0002t0020g0336 a0001c0002t0030g0003 a0001c0002t0037g0015 a0001c0002t0052g0338 a0001c0014t0021g0337 a0002c0016t0009g0228	40	350	0.1143	-120	c.72- others(15): Show c.72-3108_72-2989del		WNT7B	ENSG00000188064.10	transcript	ENST00000339464.9	protein_coding	1/3						chr22	TogoVar
XPNPEP2_chrX_129733979_129774536	129757796	GAAGAAAG others(113): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAGGGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	310	0.0032	-120	c.136 others(19): Show c.1367+1288_1368-1218del		XPNPEP2	ENSG00000122121.12	transcript	ENST00000371106.4	protein_coding	14/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZFPM1_chr16_88448280_88542031	88493100	CGGGGAGC others(113): Show CGGGGAGCTGTCCCGGGGTGGGGGGAGCTGTCCCGGGGTGGGGAGAGCTG TCCCGGGGTGAGGAGAGCTGTCCCGGAGTGAGGAGAGCTGTCCCAGGGTG CGGGGAGCTGTCCCGGGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp2 others(61): Show HG00099.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02293.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp2 HG03225.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18940.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18995.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0015 a0016 a0022 a0023 a0027 a0031 a0034 a0046 a0052	a0001c0001 a0001c0011 a0001c0021 others(24): Show a0001c0001 a0001c0011 a0001c0021 a0002c0002 a0002c0012 a0002c0026 a0002c0053 a0002c0099 a0003c0003 a0003c0033 a0003c0103 a0004c0004 a0004c0016 a0005c0007 a0006c0013 a0006c0035 a0007c0024 a0008c0052 a0015c0030 a0016c0032 a0022c0062 a0023c0090 a0027c0039 a0031c0100 a0034c0059 a0046c0056 a0052c0058	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(35): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0011t0023 a0001c0021t0011 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0055 a0002c0002t0065 a0002c0012t0013 a0002c0026t0006 a0002c0053t0033 a0002c0099t0006 a0003c0003t0003 a0003c0003t0006 a0003c0033t0008 a0003c0103t0006 a0004c0004t0003 a0004c0004t0006 a0004c0016t0001 a0004c0016t0006 a0005c0007t0009 a0006c0013t0005 a0006c0035t0001 a0007c0024t0007 a0008c0052t0056 a0015c0030t0004 a0016c0032t0003 a0022c0062t0006 a0023c0090t0004 a0027c0039t0068 a0031c0100t0013 a0034c0059t0003 a0046c0056t0006 a0052c0058t0023	a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0218 others(61): Show a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0218 a0001c0001t0004g0289 a0001c0001t0005g0108 a0001c0011t0023g0293 a0001c0011t0023g0294 a0001c0021t0011g0280 a0002c0002t0001g0030 a0002c0002t0004g0151 a0002c0002t0005g0032 a0002c0002t0005g0070 a0002c0002t0006g0118 a0002c0002t0011g0278 a0002c0002t0055g0140 a0002c0002t0065g0263 a0002c0012t0013g0017 a0002c0026t0006g0109 a0002c0053t0033g0082 a0002c0099t0006g0049 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0146 a0003c0003t0003g0150 a0003c0003t0003g0202 a0003c0003t0003g0208 a0003c0003t0003g0211 a0003c0003t0003g0242 a0003c0003t0003g0270 a0003c0003t0006g0086 a0003c0003t0006g0087 a0003c0003t0006g0123 a0003c0033t0008g0261 a0003c0103t0006g0016 a0004c0004t0003g0193 a0004c0004t0003g0213 a0004c0004t0003g0214 a0004c0004t0003g0267 a0004c0004t0006g0010 a0004c0004t0006g0077 a0004c0004t0006g0084 a0004c0004t0006g0098 a0004c0004t0006g0110 a0004c0004t0006g0128 a0004c0016t0001g0019 a0004c0016t0006g0046 a0004c0016t0006g0051 a0004c0016t0006g0080 a0005c0007t0009g0136 a0006c0013t0005g0099 a0006c0035t0001g0093 a0007c0024t0007g0126 a0008c0052t0056g0279 a0015c0030t0004g0231 a0016c0032t0003g0212 a0016c0032t0003g0219 a0022c0062t0006g0130 a0023c0090t0004g0238 a0027c0039t0068g0007 a0031c0100t0013g0050 a0034c0059t0003g0221 a0046c0056t0006g0089 a0052c0058t0023g0206	64	318	0.2013	-120	c.268 others(17): Show c.268+3950_268+4069del		ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF251_chr8_144715909_144760531	144730304	CCGCTGCG others(113): Show CCGCTGCGACGGGGCGTCCCGGGGGTGACACTGGCATGTGACGCTGCGAC GGGGCGTCCCGGGGGTGACACTGGCATGTGACGCTGCGACGGGGCGTCCC GGGGGTGACACTGGCATGTGA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02615.hp1 others(12): Show HG02109.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0001 a0004c0013t0001 a0001c0001t0001 a0004c0013t0001	a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0087 others(12): Show a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0229 a0001c0001t0001g0257 a0004c0013t0001g0078	15	389	0.0386	-120	c.278 others(17): Show c.278-7042_278-6923del		ZNF251	ENSG00000198169.9	transcript	ENST00000292562.12	protein_coding	4/4						chr8	TogoVar
ZNF407_chr18_74592870_75070671	75012257	ATACACAT others(113): Show ATACACATAGTGTATGTACACATAGTGTATGTACACATAGTGTATGTACA CATAGTGTATGTACACATAGTGTATGTACACATAGTGTATGTACACATAG TGTATGTACACATAGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00642.hp2 others(17): Show HG00438.hp1 HG00558.hp1 HG00642.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02451.hp1 HG02486.hp1 HG02698.hp1 HG03471.hp1 HG03490.hp1 NA18906.hp2 NA18960.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0013	a0001c0001 a0001c0003 a0001c0023 others(10): Show a0001c0001 a0001c0003 a0001c0023 a0001c0024 a0001c0025 a0002c0002 a0002c0004 a0002c0009 a0003c0005 a0003c0006 a0004c0032 a0005c0016 a0013c0022	a0001c0001t0003 a0001c0003t0002 a0001c0003t0004 others(12): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0004 a0001c0023t0001 a0001c0024t0004 a0001c0025t0001 a0002c0002t0003 a0002c0004t0002 a0002c0004t0004 a0002c0009t0003 a0003c0005t0001 a0003c0006t0002 a0004c0032t0004 a0005c0016t0002 a0013c0022t0002	a0001c0001t0003g0067 a0001c0001t0003g0072 a0001c0003t0002g0064 others(17): Show a0001c0001t0003g0067 a0001c0001t0003g0072 a0001c0003t0002g0064 a0001c0003t0004g0081 a0001c0023t0001g0068 a0001c0024t0004g0090 a0001c0025t0001g0071 a0002c0002t0003g0044 a0002c0004t0002g0006 a0002c0004t0004g0055 a0002c0004t0004g0058 a0002c0009t0003g0053 a0002c0009t0003g0062 a0003c0005t0001g0022 a0003c0006t0002g0084 a0003c0006t0002g0085 a0004c0032t0004g0041 a0005c0016t0002g0033 a0005c0016t0002g0034 a0013c0022t0002g0007	20	92	0.2174	-120	c.542 others(21): Show c.5429-50864_5429-50745del		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF407_chr18_74592870_75070671	75032662	TAGTATTA others(113): Show TAGTATTAGGTAACTAAGACTGCTCAGAATGGGGGGAAGATAGTATTAGA TAACTAAGAGTGCTCGGAATGGGGGGAAGATAGCATTAGATAACTAAGAG TGCTCAGAATAGGGGGAAGAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03516.hp2 HG01081.hp2 HG03516.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0073 a0003c0006t0006g0074 a0003c0006t0006g0073 a0003c0006t0006g0074	2	92	0.0217	-120	c.542 others(21): Show c.5429-30479_5429-30360del		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393135	GGGGAAGG others(113): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02602.hp1 HG02738.hp1 others(5): Show HG02015.hp2 HG02602.hp1 HG02738.hp1 HG03017.hp1 NA18961.hp1 NA19056.hp1 NA19057.hp1 NA19074.hp1	a0001 a0007 a0025 a0001 a0007 a0025	a0001c0001 a0007c0045 a0025c0043 a0001c0001 a0007c0045 a0025c0043	a0001c0001t0007 a0001c0001t0020 a0001c0001t0089 others(5): Show a0001c0001t0007 a0001c0001t0020 a0001c0001t0089 a0001c0001t0122 a0001c0001t0138 a0001c0001t0189 a0007c0045t0001 a0025c0043t0002	a0001c0001t0007g0247 a0001c0001t0020g0328 a0001c0001t0089g0281 others(5): Show a0001c0001t0007g0247 a0001c0001t0020g0328 a0001c0001t0089g0281 a0001c0001t0122g0282 a0001c0001t0138g0173 a0001c0001t0189g0246 a0007c0045t0001g0178 a0025c0043t0002g0279	8	346	0.0231	-120	c.181 others(21): Show c.1811-12952_1811-12833del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393324	GGGGAGGG others(113): Show GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0048 a0003c0007t0048	a0003c0007t0048g0335 a0003c0007t0048g0336 a0003c0007t0048g0335 a0003c0007t0048g0336	2	346	0.0058	-120	c.181 others(21): Show c.1811-13141_1811-13022del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393356	AGGTGGTC others(113): Show AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	346	0.0029	-120	c.181 others(21): Show c.1811-13173_1811-13054del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393419	GAAGGCAG others(113): Show GAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	346	0.0029	-120	c.181 others(21): Show c.1811-13236_1811-13117del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394071	AGGTGGTC others(113): Show AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0007 a0007	a0007c0047 a0007c0047	a0007c0047t0183 a0007c0047t0183	a0007c0047t0183g0127 a0007c0047t0183g0127	1	346	0.0029	-120	c.181 others(21): Show c.1811-13888_1811-13769del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394113	GGGCAGGG others(113): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19043.hp1 HG02523.hp2 NA19043.hp1	a0001 a0016 a0001 a0016	a0001c0006 a0016c0040 a0001c0006 a0016c0040	a0001c0006t0028 a0016c0040t0016 a0001c0006t0028 a0016c0040t0016	a0001c0006t0028g0292 a0016c0040t0016g0311 a0001c0006t0028g0292 a0016c0040t0016g0311	2	346	0.0058	-120	c.181 others(21): Show c.1811-13930_1811-13811del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394141	GGGCAGGT others(113): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0177 a0001c0001t0142g0177	1	346	0.0029	-120	c.181 others(21): Show c.1811-13958_1811-13839del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394348	GGGGAGGG others(113): Show GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0205 a0001c0013t0205	a0001c0013t0205g0121 a0001c0013t0205g0121	1	346	0.0029	-120	c.181 others(21): Show c.1811-14165_1811-14046del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394443	GAAGGCAG others(113): Show GAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02155.hp2 HG02056.hp1 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0096 a0001c0002t0151 a0001c0002t0096 a0001c0002t0151	a0001c0002t0096g0333 a0001c0002t0151g0168 a0001c0002t0096g0333 a0001c0002t0151g0168	2	346	0.0058	-120	c.181 others(21): Show c.1811-14260_1811-14141del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394449	AGGTGGTC others(113): Show AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0102 a0001c0004t0102	a0001c0004t0102g0302 a0001c0004t0102g0302	1	346	0.0029	-120	c.181 others(21): Show c.1811-14266_1811-14147del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF707_chr8_143679479_143700385	143692440	GATCCCCG others(113): Show GATCCCCGGGTGTGTGGAGCCCCCGGCTGGGGAGGTGTCGGATCCCCGGG TGTGTGGAGCCCCCGGCTGGGGAGGTGTCGGATCCCCGGGTGTGTGGAGC CCCCGGCTGGGGAGGTGTTGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(105): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG03017.hp1 HG03927.hp1 HG04184.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19062.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0010 others(1): Show a0001c0001 a0002c0002 a0004c0010 a0006c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0011 a0004c0010t0002 a0006c0006t0019	a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0027 others(30): Show a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0003g0056 a0001c0001t0004g0001 a0001c0001t0004g0007 a0001c0001t0004g0028 a0001c0001t0004g0072 a0002c0002t0001g0097 a0002c0002t0011g0135 a0004c0010t0002g0001 a0006c0006t0019g0123	108	435	0.2483	-120	c.256 others(15): Show c.256+845_256+964del		ZNF707	ENSG00000181135.16	transcript	ENST00000358656.9	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF707_chr8_143679479_143700385	143692720	GATCCCCG others(113): Show GATCCCCGGGTGTGTGGAGCCCCCGGCTGGGGAGGTGTCGCATCCCCGGG TGTGTGGAGCCCCCGGCTGGGGAGGTGTCGCATCCCCGGGTGTGTGGAGC CCCCGGCTGGGGAGGTGTCGC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	2	435	0.0046	-120	c.257 others(15): Show c.257-882_257-763del		ZNF707	ENSG00000181135.16	transcript	ENST00000358656.9	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF732_chr4_265675_310474	299388	TATGTACA others(113): Show TATGTACACATATGTGTATATATATATACACATATATACACATATGTGTA TATATATATATATACACATATGTGTATATATATATACACATATATACACA TATGTGTGTATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0010 a0011c0017t0010	a0011c0017t0010g0261 a0011c0017t0010g0261	1	326	0.0031	-120	c.4-3 others(13): Show c.4-3353_4-3234del		ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	1/3						chr4	TogoVar
ZNF835_chr19_56656980_56676757	56669506	TCAGGAGT others(113): Show TCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTACCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(100): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00642.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02698.hp1 HG02738.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA20905.hp2	a0002 a0014 a0002 a0014	a0002c0002 a0002c0019 a0014c0013 a0002c0002 a0002c0019 a0014c0013	a0002c0002t0001 a0002c0002t0010 a0002c0002t0042 others(3): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0042 a0002c0002t0043 a0002c0019t0001 a0014c0013t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0007 others(19): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0026 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0148 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0010g0014 a0002c0002t0010g0138 a0002c0002t0010g0142 a0002c0002t0042g0137 a0002c0002t0043g0135 a0002c0019t0001g0154 a0014c0013t0001g0140	103	450	0.2289	-120	c.-48 others(17): Show c.-48+1950_-48+2069del		ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1						chr19	TogoVar
ABCG1_chr21_42214140_42302244	42283899	CCCCCGCC others(112): Show CCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAG TTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCC CGCCTGGACAGTTGCGAAGT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	354	0.0028	-119	c.735 others(15): Show c.735-656_735-538del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ADAP1_chr7_892900_959680	916942	GGGGGGCG others(112): Show GGGGGGCGCAGTGCCAGCTCTACCGGGGAGGTGCACAGGAGGGGTGCGCA GTGCCAGCTCTACCGGGGAGGTGCACGGGAGGGGGGCGCAGTGCCAGCTC TACCGGGGAGGTGCACGGGA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	14	0.0714	-119	c.388 others(17): Show c.388+2907_388+3025del		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10						chr7	TogoVar
ADARB2_chr10_1172313_1742525	1238827	CCTGCCTC others(112): Show CCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCT CCCTCTGGCGATACTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0064 a0002c0002t0064	a0002c0002t0064g0100 a0002c0002t0064g0100	1	106	0.0094	-119	c.136 others(19): Show c.1361+3185_1361+3303del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238891	TACTCCCT others(112): Show TACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0106 a0002c0002t0053g0106	1	106	0.0094	-119	c.136 others(19): Show c.1361+3121_1361+3239del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239386	CTGCCTCC others(112): Show CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0082 a0002c0002t0004g0082	1	106	0.0094	-119	c.136 others(19): Show c.1361+2626_1361+2744del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239573	CCCCCCTC others(112): Show CCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGCTTACT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0028 a0002c0002t0005g0028	1	106	0.0094	-119	c.136 others(19): Show c.1361+2439_1361+2557del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239813	CCCCTCTC others(112): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCC TCTCCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18988.hp2 HG02145.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0050 a0001c0001t0003 a0001c0001t0050	a0001c0001t0003g0094 a0001c0001t0050g0077 a0001c0001t0003g0094 a0001c0001t0050g0077	2	106	0.0189	-119	c.136 others(19): Show c.1361+2199_1361+2317del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar

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