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
SYTL3_chr6_158645054_158769871	158693711	T T	TTCTTTCT others(176): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0189 a0005c0007t0001g0189	1	292	0.0034	183	c.394 others(202): Show c.394+10731_394+10732insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TTTCTTT		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(176): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG04184.hp2 HG02129.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0240 a0001c0001t0001g0150 a0001c0001t0001g0240	2	258	0.0078	183	c.113 others(202): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCC ACCATCC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(176): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCCCCATCCTATCCACCCACCCACCATCCACCATCCTATCCACCCAC CCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCAC CCCCATACCCATCCTATCCACCCACCCACCATCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp1 HG02809.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0020 a0001c0001t0013g0049 a0001c0001t0004g0020 a0001c0001t0013g0049	2	258	0.0078	183	c.113 others(202): Show c.113-25942_113-25941insCCCATCCTATCCACCCACCCACCATC CACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCAC ATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCA TCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCC ACCATCC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620608	C C	CTATCCAC others(176): Show CTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCAC CATCCTATCCACCCACCCACCATCCACCATCCTATCCACCCACCCACCAT CCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATA CCCATCCTATCCACCCACCCACCATCCCCCATCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp2 HG03471.hp1 others(1): Show HG02647.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0074 a0001c0001t0002g0159 others(1): Show a0001c0001t0002g0030 a0001c0001t0002g0074 a0001c0001t0002g0159 a0001c0001t0002g0195	4	258	0.0155	183	c.113 others(202): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCATC CTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCA TCGTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCC ACCATCC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620629	C C	CCCATCCT others(176): Show CCCATCCTATCCACCCACCCACCATCCACCATCCTATCCACCCACCCACC ATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCA TACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03834.hp2 NA19011.hp2 HG00438.hp1 HG03834.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 a0001c0001t0001 a0001c0001t0016 a0001c0002t0001	a0001c0001t0001g0068 a0001c0001t0016g0222 a0001c0002t0001g0203 a0001c0001t0001g0068 a0001c0001t0016g0222 a0001c0002t0001g0203	3	258	0.0116	183	c.113 others(202): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCTATCCACCCACCCACCATCC ACCATCC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620645	A A	ACCCACCA others(176): Show ACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCA CCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCGTATCCAC CCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTAT CCACCCCCCCACCATCCCCCATCCTATCCACCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	258	0.0039	183	c.113 others(202): Show c.113-25942_113-25941insCCCATCCTATCCACCCACCCACCATC CACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATAC CCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCCCCCCACCA TCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCCCCC ACCATCC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620885	T T	TCCACCCA others(176): Show TCCACCCACCCACGTATCCTATTCATCCATCCCCCCACCCACCCTATCTA TCCACCCATCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTA TCCACCCATCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTA TCCACCCATCCACCTATCCTATTCATCCATCCCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG04184.hp1 HG02056.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0241 a0001c0001t0001g0065 a0001c0001t0001g0241	2	258	0.0078	183	c.113 others(202): Show c.113-25701_113-25700insCGTATCCTATTCATCCATCCCCCCAC CCACCCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCCCCCAC CCACCCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCCCCCAC CCACCCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCCCCCAC CCACCCA		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620896	A A	ACGTATCC others(176): Show ACGTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCATCC ACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCATCC ACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCATCC ACCTATCCTATTCATCCATCCCCCCACCCACCCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	258	0.0039	183	c.113 others(202): Show c.113-25701_113-25700insCGTATCCTATTCATCCATCCCCCCAC CCACCCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCCCCCAC CCACCCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCCCCCAC CCACCCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCCCCCAC CCACCCT		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3						chr22	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(176): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19043.hp2 HG02155.hp1 NA19043.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0018 a0001c0001 a0010c0018	a0001c0001t0021 a0010c0018t0001 a0001c0001t0021 a0010c0018t0001	a0001c0001t0021g0005 a0010c0018t0001g0073 a0001c0001t0021g0005 a0010c0018t0001g0073	2	266	0.0075	183	c.-23 others(202): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTT		TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
TARS3_chr15_101648596_101729473	101692328	C C	CGGCTCCA others(176): Show CGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCCATCTCCTCACT TCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCC ATCTCCTCACTTCTCTCCTCCATGGCTCCAAGCTCTCTGTGGGTTCTGGT ATTACTACTCCATCTCCTCACTTCTCTCCTCCAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03579.hp1 HG02559.hp2 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0171 a0002c0004t0004g0176 a0002c0004t0004g0171 a0002c0004t0004g0176	2	278	0.0072	183	c.132 others(202): Show c.1321-6267_1321-6266insATGGAGGAGAGAAGTGAGGAGATGGA GTAGTAATACCAGAACCCACAGAGAGCTTGGAGCCATGGAGGAGAGAAGT GAGGAGATGGAGTAGTAATACCAGAACCCACAGAGAGCTTGGAGCCGTGG AGGAGAGAAGTGAGGAGATGGAGTAGTAATACCAGAACCCACAGAGAGCT TGGAGCC		TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	10/18						chr15	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(176): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAGAAAGAAAGAGAAGAAAGAAAGAAGAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGGAAGAAGAGAAAGA AAGAAAGAAGAAAGAAAAGAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	183	c.37 others(194): Show c.3715_*3716insCTTTCTTTCTTTCTTCTTTTCTTTCTTCTTTCTT TCTTTCTCTTCTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCTTCTTTCTTTCTTCTCTTTCTTTCTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding					3577		chr10	TogoVar
TCHH_chr1_152101317_152120444	152112073	G G	GCTGCTCG others(176): Show GCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTC AGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCG CCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCT CGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03139.hp2 HG03139.hp2	a0082 a0082	a0082c0133 a0082c0133	a0082c0133t0001 a0082c0133t0001	a0082c0133t0001g0068 a0082c0133t0001g0068	1	402	0.0025	183	c.114 others(192): Show c.1143_1144insGAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAG CAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCG CGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGA GGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAG	p.Gln others(196): Show p.Gln381_Gln382insGluGluGluArgArgGluGlnGlnLeuArgAr gGluGlnGlnLeuArgArgGluGlnGlnLeuArgArgGluGlnGlnLeuA rgArgGluGlnGlnLeuArgArgGluGlnGlnLeuArgArgGluGlnGln LeuArgArgGluGlnGlnLeuArgArgGluGlnGlnLeuArgArgGluGl n	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1228/6985	1143/5832	381/1943			chr1	TogoVar
TENM4_chr11_78647829_79446030	79138835	C C	CCTTATAT others(176): Show CCTTATATTTATATAAATATATAAAATATATATTATATTTCTATAAATAT ATATTATATTTCCATAAATATATAAAATATATATTATATTTCCATAAATA TATAAAATATATATTATATTTATATAAATATATATTATATTTCTATAAAT ATATAAAATATATATTATATTTATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA20752.hp2 HG02647.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0045 a0001c0001 a0004c0045	a0001c0001t0007 a0004c0045t0044 a0001c0001t0007 a0004c0045t0044	a0001c0001t0007g0063 a0004c0045t0044g0071 a0001c0001t0007g0063 a0004c0045t0044g0071	2	94	0.0213	183	c.-66 others(200): Show c.-66+9874_-66+9875insATATATTTATATAAATATAATATATATT TTATATATTTATAGAAATATAATATATATTTATATAAATATAATATATAT TTTATATATTTATGGAAATATAATATATATTTTATATATTTATGGAAATA TAATATATATTTATAGAAATATAATATATATTTTATATATTTATATAAAT ATAAG		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
THEG_chr19_356747_381026	376735	T T	TCCCCCTC others(176): Show TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGC CTCCCCCCCTCTGTGCCCCACCCAGCCTCCCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACC CAGCCTCCCCCCCTCTGTGCCCCACCCAGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03540.hp1 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0089 a0001c0001t0013g0091 a0001c0001t0002g0089 a0001c0001t0013g0091	2	370	0.0054	183	c.-76 others(192): Show c.-766_-765insGGAGGCTGGGTGGGGCACAGAGGGGGGGAGGCTGGG TGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGGGAGGCTGGGTGGGGCACAGAGGGGGGGAGGC TGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					710		chr19	TogoVar
THEG_chr19_356747_381026	376773	C C	CCCCACCC others(176): Show CCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01071.hp1 others(4): Show HG00140.hp2 HG01069.hp1 HG01071.hp1 HG01358.hp1 HG01516.hp2 HG01934.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0032 a0001c0001 a0001c0003 a0001c0032	a0001c0001t0003 a0001c0003t0003 a0001c0032t0001 a0001c0001t0003 a0001c0003t0003 a0001c0032t0001	a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0231 others(3): Show a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0003t0003g0006 a0001c0003t0003g0125 a0001c0032t0001g0226	7	370	0.0189	183	c.-80 others(192): Show c.-804_-803insCACACAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					748		chr19	TogoVar
THEG_chr19_356747_381026	377158	T T	TCTGTGCC others(176): Show TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCC CCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0025 a0025	a0025c0023 a0025c0023	a0025c0023t0047 a0025c0023t0047	a0025c0023t0047g0133 a0025c0023t0047g0133	1	370	0.0027	183	c.-11 others(194): Show c.-1189_-1188insGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGG GGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1133		chr19	TogoVar
THEG_chr19_356747_381026	377340	C C	CCTGTGCC others(176): Show CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	370	0.0027	183	c.-13 others(194): Show c.-1371_-1370insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1315		chr19	TogoVar
THEG_chr19_356747_381026	377371	G G	GCCCCACC others(176): Show GCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCC CCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	370	0.0027	183	c.-14 others(194): Show c.-1402_-1401insTACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGG GGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1346		chr19	TogoVar
THEG_chr19_356747_381026	377496	T T	TCTGTGCC others(176): Show TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0345 a0005c0005t0004g0345	1	370	0.0027	183	c.-15 others(194): Show c.-1527_-1526insGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1471		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(176): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02896.hp2 HG02818.hp1 HG02896.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0053 a0004c0007t0048 a0001c0003t0053 a0004c0007t0048	a0001c0003t0053g0142 a0004c0007t0048g0139 a0001c0003t0053g0142 a0004c0007t0048g0139	2	370	0.0054	183	c.-15 others(194): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1503		chr19	TogoVar
THEG_chr19_356747_381026	377606	G G	GCCCCACC others(176): Show GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	370	0.0027	183	c.-16 others(194): Show c.-1637_-1636insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1581		chr19	TogoVar
THSD4_chr15_71110471_71788383	71199893	A A	ATGTGTGT others(176): Show ATGTGTGTGTGGTGCATGTGTGGGGTGTGTGGTGTGTGTGTGTAGTGTGT GTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGG GTGTGTGCTGTGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGGGTGTGT GTGTGTGCTGTGTGTGATGCATGTGTGGGGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0039 a0001c0009t0013g0039	1	116	0.0086	183	c.100 others(202): Show c.100-15112_100-15111insGTGTGTGTGTGTAGTGTGTGTGTAGT GTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTG CTGTGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGGGTGTGTGTGTGTG CTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTGTGGTGCATGTGTGGG GTGTGTG		THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr15	TogoVar
TMA7B_chr22_39955397_39969905	39956636	C C	CTTTTTTT others(176): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18970.hp1 NA18983.hp1 others(1): Show HG00621.hp1 NA18970.hp1 NA18983.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0001 a0001c0001t0007g0001 a0001c0001t0002g0001 a0001c0001t0007g0001	4	428	0.0094	183	c.-47 others(194): Show c.-4739_-4738insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT		TMA7B	ENSG00000225528.4	transcript	ENST00000424496.3	protein_coding					3760		chr22	TogoVar
TMC6_chr17_78102397_78133755	78111931	A A	ATGACGGG others(176): Show ATGACGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCC CCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTG GAGCACAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCACTGGGGTCAT GACGGGCTGGTTCCCGCAGGCCTGGAGCACAGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 homoSapiens_chm13v2.hp1 HG04115.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0063 a0001c0001t0039 a0001c0001t0063	a0001c0001t0039g0090 a0001c0001t0063g0178 a0001c0001t0039g0090 a0001c0001t0063g0178	2	444	0.0045	183	c.12 others(194): Show c.1216_*1217insGCCTGTGCTCCAGGCCTGCGGGAACCAGCCCGTC ATGACCCCAGTGCTCCAGGCCTGCGGGGACCAGCCCGTCAGCCTGTGCTC CAGGCCTGCGGGGACCAGCCCGTCATGACCCCAGTGCTCCAGGTCTGTGG GGACCAGCCCGTCAGCCTGTGCTCCAGGCCTGTGGGGACCAGCCCGTCA		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	20/20				1216		chr17	TogoVar
TMEM120A_chr7_75981831_75999595	75988855	G G	GGTGTGGA others(176): Show GGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGG TGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGG GGGGTGGAGGGGAAGGCCGGGTGGGGTGGGGGGTGGAGGGGAAGGCCGGG TGGGGTGGGGGGTGGAGGGGAAGGCCGGGTGGGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18952.hp2 NA19002.hp2 others(1): Show NA18939.hp1 NA18952.hp2 NA19002.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0019 a0001c0002t0001g0051 a0001c0002t0001g0054	4	368	0.0109	183	c.377 others(198): Show c.377+309_377+310insACCCACCCGGCCTTCCCCTCCACCCCCCAC CCCACCCGGCCTTCCCCTCCACCCCCCACCCCACCCGGCCTTCCCCTCCA CCCCCCCACCCGGCCTTCCCCTCCACACACCCACCCGGCCTTCCCCTCCA CACACCCACCCGGCCTTCCCCTCCACACACCCACCCGGCCTTCCCCTCCA CAC		TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11						chr7	TogoVar
TMEM163_chr2_134450759_134724000	134607701	G G	GACAGACC others(176): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0060 a0001c0001t0006g0060	1	222	0.0045	183	c.323 others(202): Show c.323-55611_323-55610insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAGTTCTCGG GGTCTGT		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TMEM163_chr2_134450759_134724000	134607800	G G	GACAGACC others(176): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCTTGAGAACTGTGCTGGTGAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18747.hp2 NA19070.hp1 HG04184.hp2 NA18747.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0078 a0001c0003t0001g0221 a0001c0003t0004g0220 a0001c0001t0001g0078 a0001c0003t0001g0221 a0001c0003t0004g0220	3	222	0.0135	183	c.323 others(202): Show c.323-55710_323-55709insTTTCACCAGCACAGTTCTCAAGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGG GGTCTGT		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TMEM63C_chr14_77176798_77264495	77236382	G G	GGGGGGTA others(176): Show GGGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGGTG GGTGGGGGTTATGGGGAGACTGGTGGGTGGGGGGTATAGGGAGACTGTGA TGGGTGGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGT GGTGGGTGGGGGGTATGGGGAGACTGTGATGGGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01168.hp1 HG01071.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0252 a0001c0001t0006g0251 a0001c0001t0003g0252 a0001c0001t0006g0251	2	322	0.0062	183	c.543 others(198): Show c.543-218_543-217insGTGGGGGTATGGGGAGACTGTGGTGGGTGG GGGTTATGGGGAGACTGGTGGGTGGGGGGTATAGGGAGACTGTGATGGGT GGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGGTGG GTGGGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGA TGG		TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
TMPRSS9_chr19_2355265_2431261	2419018	C C	CCCTTCCC others(176): Show CCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCT TCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCC TCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCC GCCCTCTCCTTCCCTTCCCTCCCACCGTCTCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0002 a0012c0023t0002	a0012c0023t0002g0106 a0012c0023t0002g0106	1	114	0.0088	183	c.215 others(200): Show c.2154+882_2154+883insTTCCCTCCCGCCCTCTCCTTCCCTTCCC TCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCC GCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCC TCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCACCGTCTC CTTCC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
TNRC6C_chr17_77953703_78113822	78111931	A A	ATGACGGG others(176): Show ATGACGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCC CCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTG GAGCACAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCACTGGGGTCAT GACGGGCTGGTTCCCGCAGGCCTGGAGCACAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 homoSapiens_chm13v2.hp1 HG04115.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0062 a0001c0002t0061 a0001c0002t0062	a0001c0002t0061g0232 a0001c0002t0062g0231 a0001c0002t0061g0232 a0001c0002t0062g0231	2	276	0.0073	183	c.70 others(194): Show c.7086_*7087insTGACGGGCTGGTCCCCACAGGCCTGGAGCACAGG CTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGACGGGCTG GTCCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCGCAGGCCTG GAGCACTGGGGTCATGACGGGCTGGTTCCCGCAGGCCTGGAGCACAGGC		TNRC6C	ENSG00000078687.18	transcript	ENST00000696270.1	protein_coding					3110		chr17	TogoVar
TP53AIP1_chr11_128930370_128947871	128930741	C C	CGGGGTTA others(176): Show CGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGA TTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0036 a0001c0001t0001g0053	2	466	0.0043	183	c.48 others(194): Show c.4849_*4850insTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAG CCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAA TCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCC		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4628		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930756	C C	CGGGGTTA others(176): Show CGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGA TTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 NA20752.hp2 HG01952.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	466	0.0043	183	c.48 others(194): Show c.4834_*4835insTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAG CCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAA TCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCC		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4613		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69077227	T T	TGTCCCTC others(176): Show TGTCCCTCCACTTGCCCTCCTGCCGTGTCCCTTCACCTGCCCTCCTGCCA TGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCA CGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCC TCCTGCCATGTCCCTCCACCTGCCCTCCTGCCAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0020 a0004c0006t0020	a0004c0006t0020g0047 a0004c0006t0020g0047	2	404	0.0050	183	c.123 others(202): Show c.1231-1245_1231-1244insTTGCCCTCCTGCCGTGTCCCTTCACC TGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACC TGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTC CCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTC CCTCCAC		TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
TPPP_chr5_654862_698352	691952	A A	ACCCCTCA others(176): Show ACCCCTCATCAAAACAGCAGCCCCCAGACCCCATCAAAACAGCAGCCCTC AACCCCCATCAAAACAGCAGCCCTCAACCCCCATCAAAACAGCAGCCCCC TAAACCCCCATCAAAACAGCAGCCCCCCAAACCCCCATCAAGACAACAGC CCCCCCAACCCGTATCAAAACAGCAGCCCCCAAC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0192 a0001c0001t0080g0192	1	409	0.0024	183	c.-5+ others(198): Show c.-5+1325_-5+1326insGTTGGGGGCTGCTGTTTTGATACGGGTTGG GGGGGCTGTTGTCTTGATGGGGGTTTGGGGGGCTGCTGTTTTGATGGGGG TTTAGGGGGCTGCTGTTTTGATGGGGGTTGAGGGCTGCTGTTTTGATGGG GGTTGAGGGCTGCTGTTTTGATGGGGTCTGGGGGCTGCTGTTTTGATGAG GGG		TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3						chr5	TogoVar
TRIM46_chr1_155168849_155189970	155189518	G G	GGGCGGTG others(176): Show GGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCG TGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCG AGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCT CTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	348	0.0029	183	c.53 others(194): Show c.5328_*5329insGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGG GCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCC TGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCC CGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGC		TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding					4549		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155189905	G G	GTCCGGGG others(176): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGGCGCGGT GGAGGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCT GCGGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	348	0.0029	183	c.57 others(194): Show c.5715_*5716insTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGG CGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGG GCTGCGGGGCGCGGTGGAGGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAG GTGACACCGTGGGCTGCGGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTC		TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding					4936		chr1	TogoVar
TSHZ2_chr20_52967358_53500330	53415694	T T	TTATATAT others(176): Show TTATATATGTGTGTGTGCATGTGTGTATATATGTGTGTACACATGTTCAT GCCTGTGTACTATATATGTGTATGTGTAGTAAAACATATATGTGTATATA CATCTATGTATGTGCATGTGTGTATATGTGTGTGCACGTGTGCGTGCTTG TGTACTTTATATGTATATGTGTAGTGAAACATGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01074.hp2 others(18): Show HG00099.hp2 HG00738.hp1 HG01074.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01928.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02523.hp1 HG02630.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG04204.hp1 NA18968.hp2 NA19063.hp1 NA19077.hp1 NA20805.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0023 a0001c0001t0029 a0001c0001t0040 a0001c0001t0060 a0001c0001t0087 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0065 a0001c0002t0089 a0003c0005t0003	a0001c0001t0001g0118 a0001c0001t0004g0071 a0001c0001t0007g0046 others(18): Show a0001c0001t0001g0118 a0001c0001t0004g0071 a0001c0001t0007g0046 a0001c0001t0008g0124 a0001c0001t0008g0131 a0001c0001t0013g0038 a0001c0001t0016g0010 a0001c0001t0023g0116 a0001c0001t0029g0094 a0001c0001t0040g0069 a0001c0001t0060g0013 a0001c0001t0087g0073 a0001c0002t0002g0040 a0001c0002t0002g0052 a0001c0002t0002g0074 a0001c0002t0003g0036 a0001c0002t0003g0084 a0001c0002t0013g0050 a0001c0002t0065g0120 a0001c0002t0089g0112 a0003c0005t0003g0091	21	174	0.1207	183	c.9- others(200): Show c.9-71445_*9-71444insATGTGTGTGTGCATGTGTGTATATATGT GTGTACACATGTTCATGCCTGTGTACTATATATGTGTATGTGTAGTAAAA CATATATGTGTATATACATCTATGTATGTGCATGTGTGTATATGTGTGTG CACGTGTGCGTGCTTGTGTACTTTATATGTATATGTGTAGTGAAACATGA TATAT		TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142255725	C C	CCACCACC others(176): Show CCACCACCACCACCACTGTCACCATCACCACCACCATCACCATCACCATC ACCACCATCACCACCACCACCACTGTCACCATCACCACCACCATCACCAT CACCACCACTGTCACCATCACCACCACCACCACTGTCACCACCACCACCA CCACCATCATCACCATCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01070.hp2 others(40): Show HG00140.hp2 HG00408.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG03017.hp1 HG03225.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG04115.hp2 NA18612.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp2 NA19004.hp2 NA19064.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0009 a0011 a0012 a0013	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006 a0006c0005 a0009c0020 a0011c0019 a0012c0013 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0005c0006t0001 a0005c0006t0002 a0006c0005t0001 a0006c0005t0002 a0009c0020t0001 a0011c0019t0003 a0012c0013t0001 a0013c0016t0001	a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0002g0023 others(40): Show a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0002g0023 a0002c0002t0001g0153 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0003g0204 a0003c0003t0001g0108 a0003c0003t0001g0113 a0003c0003t0001g0115 a0003c0003t0001g0117 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0127 a0003c0003t0001g0133 a0003c0003t0001g0137 a0003c0003t0002g0011 a0003c0003t0002g0105 a0003c0003t0002g0112 a0003c0003t0002g0118 a0003c0003t0002g0138 a0003c0003t0003g0096 a0003c0003t0003g0101 a0003c0003t0003g0110 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0134 a0003c0003t0003g0135 a0005c0006t0001g0218 a0005c0006t0002g0148 a0005c0006t0002g0149 a0005c0006t0002g0224 a0006c0005t0001g0169 a0006c0005t0001g0170 a0006c0005t0001g0233 a0006c0005t0002g0028 a0006c0005t0002g0069 a0006c0005t0002g0221 a0006c0005t0002g0229 a0009c0020t0001g0060 a0011c0019t0003g0136 a0012c0013t0001g0185 a0013c0016t0001g0027	43	238	0.1807	183	c.144 others(204): Show c.1446+19055_1446+19056insATGGTGATGGTGGTGGTGATGGTG ATGATGGTGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTGAC AGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGACAGTGGTGGTGGTGG TGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGACAGTGGTG GTGGTGGTG		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13						chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142390582	A A	AACAGACG others(176): Show AACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACACTGC GGGGGACTCCGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGAC GCTGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCGGGGACT CCGTAACAGACGCTGTACACTGCTGGGGACTCCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0095 a0004c0004t0001g0095	1	238	0.0042	183	c.-40 others(202): Show c.-40+12521_-40+12522insCGGAGTCCCCAGCAGTGTACAGCGTC TGTTACGGAGTCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAG TGTACAGCGTCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGTTACGG AGTCCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCCGCAGTGTACAG CGTCTGT		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142390582	A A	AACAGACG others(176): Show AACAGACGCTGTACGCTGCGGGGGACTCCGTAACAGACGCTGTACACTGC GGGGGACTCCGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGAC GCTGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCGGGGACT CCGTAACAGACGCTGTACACTGCTGGGGACTCCG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0111 a0003c0003t0002g0111	1	238	0.0042	183	c.-40 others(202): Show c.-40+12521_-40+12522insCGGAGTCCCCAGCAGTGTACAGCGTC TGTTACGGAGTCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAG TGTACAGCGTCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGTTACGG AGTCCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCCGCAGCGTACAG CGTCTGT		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
TSPYL6_chr2_54248178_54261229	54259613	A A	AGATTGTA others(176): Show AGATTGTAGTATGAAATAGGGTGGTCAGAGGAAGCCTCATTGAAAATATG AGATTTTGGCAAAGAGTCAAAGAAGTTGAGGGAGTCAGCTAGTAGAAATC CTGGAGGAGAGCATTTCAGCACGAGAAGTGCTAAGCAGAGGCACTAAGAC AGGAGCATGTCTGGAATGTTCAAGAAATAACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02897.hp2 HG02622.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	3	436	0.0069	183	c.-34 others(194): Show c.-3463_-3462insCTTGTTATTTCTTGAACATTCCAGACATGCTCCT GTCTTAGTGCCTCTGCTTAGCACTTCTCGTGCTGAAATGCTCTCCTCCAG GATTTCTACTAGCTGACTCCCTCAACTTCTTTGACTCTTTGCCAAAATCT CATATTTTCAATGAGGCTTCCTCTGACCACCCTATTTCATACTACAATC		TSPYL6	ENSG00000178021.11	transcript	ENST00000317802.9	protein_coding					3385		chr2	TogoVar
TTLL10_chr1_1168880_1202936	1202600	T T	TACCCAGC others(176): Show TACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG AGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCC AGTCTCCAACCCATGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGCACC CATCCCCGAGCCCAGTACCCAGCCCGAGCCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0174 a0002c0001t0002g0174	1	382	0.0026	183	c.47 others(194): Show c.4753_*4754insACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGTCTCCAACCCATGCCCCGAGCCCAGTACCCAGC CCCGAGCCCAGCACCCATCCCCGAGCCCAGTACCCAGCCCGAGCCCAGC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding					4665		chr1	TogoVar
TTLL8_chr22_50013575_50063298	50057572	G G	GGGATCAG others(176): Show GGGATCAGGTCTGGGTTGGGGTCAGGTCTGGGCTTGGGGGTCAGGTCTGG GTTTGGGGGTCAGGACTGGGTTTGGTGTCAGGTCTGGGTTGTGAGTCAGG TCTGGGTTGGGGGATCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGCGG GAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGTGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG01175.hp1 others(48): Show HG00438.hp2 HG00733.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp2 HG01515.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG03239.hp2 HG03471.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18980.hp1 NA18986.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0022 a0024	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0008c0008 a0022c0027 a0024c0025	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0005c0005t0001 a0005c0005t0002 a0006c0006t0002 a0008c0008t0001 a0022c0027t0001 a0024c0025t0001	a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0168 others(46): Show a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0155 a0001c0001t0002g0183 a0002c0002t0001g0142 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0159 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0181 a0002c0002t0002g0145 a0003c0003t0001g0005 a0003c0003t0001g0140 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0154 a0003c0003t0001g0157 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0179 a0003c0003t0002g0160 a0003c0003t0002g0171 a0003c0003t0002g0172 a0004c0004t0001g0141 a0004c0004t0001g0144 a0004c0004t0001g0178 a0004c0004t0002g0004 a0004c0004t0002g0161 a0004c0004t0002g0162 a0004c0004t0002g0167 a0004c0004t0004g0217 a0005c0005t0001g0139 a0005c0005t0002g0176 a0006c0006t0002g0158 a0006c0006t0002g0175 a0008c0008t0001g0164 a0008c0008t0001g0165 a0008c0008t0001g0184 a0022c0027t0001g0182 a0024c0025t0001g0216	51	224	0.2277	183	c.-39 others(198): Show c.-39+581_-39+582insTCACAACCCAGACCTGACCCCCAACCCAGA CCTCCCGCCCAACCCAGACCTGACCCCAACCCAGACCTGATCCCCCAACC CAGACCTGACTCACAACCCAGACCTGACACCAAACCCAGTCCTGACCCCC AAACCCAGACCTGACCCCCAAGCCCAGACCTGACCCCAACCCAGACCTGA TCC		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13						chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870216	A A	ACACACAC others(176): Show ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACACACCCCACACACACCACACACCC CACACACACCACACACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	338	0.0030	183	c.35 others(202): Show c.35+21490_*35+21491insCACACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACACC CCACACACACCACACCCCATACACACCACACCCCACACACACACACCCCA CACACACCACACACCCCACACACACCACACACCCCACACACACCACACCC CACACAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE3A_chr15_25328728_25444024	25430050	T T	TATGTATT others(176): Show TATGTATTATATATATATAATACATATATATAAGATTATATATATATTAT ATATATAATACATATATATAAGATTATATATATATTATATATATAATACA TATATATATTATATATATATTATATATATAATACATATATATAAGATTAT ATATATATTATATATATAATACATATATATAAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	298	0.0034	183	c.-16 others(202): Show c.-165+8438_-165+8439insTCTTATATATATGTATTATATATATA ATATATATATAATCTTATATATATGTATTATATATATAATATATATATAA TATATATATGTATTATATATATAATATATATATAATCTTATATATATGTA TTATATATATAATATATATATAATCTTATATATATGTATTATATATATAT AATACAT		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12						chr15	TogoVar
UCKL1_chr20_63934829_63961416	63942248	G G	GGGCGGGG others(176): Show GGGCGGGGCCGGAAATGGGGTGTGGCAGGGCAGAAGAGAGGCGTGACAGC GGCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGA GGCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAG GGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	356	0.0028	183	c.924 others(200): Show c.924-1041_924-1040insTCTTTCCCTGCCGCTGTCACGCCTCTTT TCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCTGCCGCTGT CACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCTTTC CCTGCCGCTGTCACGCCTCTCTTCTGCCCTGCCACACCCCATTTCCGGCC CCGCC		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14						chr20	TogoVar
UCKL1_chr20_63934829_63961416	63942248	G G	GGGCGGGG others(176): Show GGGCGGGGCCGGAAATGGGGTGTGGCAGGGCAGAAGAGAGGCGTGACAGC GGCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAGAGA GGCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAG GGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	356	0.0028	183	c.924 others(200): Show c.924-1041_924-1040insTCTTTCCCTGCCGCTGTCACGCCTCTTT TCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCTGCCGCTGT CACGCCTCTCTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCTTTC CCTGCCGCTGTCACGCCTCTCTTCTGCCCTGCCACACCCCATTTCCGGCC CCGCC		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14						chr20	TogoVar
UCKL1_chr20_63934829_63961416	63942260	G G	GAATGGGG others(176): Show GAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGG GGCGGGGTCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGAAAGGGGCGGGGCCGGAAATGGGGTGTGGCAGGGCAGAAAAGAG GCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	356	0.0028	183	c.924 others(200): Show c.924-1053_924-1052insTCCGGCCCCGCCCCTTTCCCTGCCGCTG TCACGCCTCTTTTCTGCCCTGCCACACCCCATTTCCGGCCCCGCCCCTTT CCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGAC CCCGCCCCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACC CCATT		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14						chr20	TogoVar
UGT1A10_chr2_233631448_233778300	233724126	A A	ACCTCCCG others(176): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGTGGGAGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0011	1	302	0.0033	183	c.856 others(202): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGTGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGG		UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233724142	G G	GGCTGGCC others(176): Show GGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGC TGACCCCCCCCCCACCTCCCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	302	0.0033	183	c.856 others(202): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGG		UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar

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