Joint Open Genome and Omics Platform (JoGo)

Search by Genic region

geneid	643965
ensemblid	ENSG00000205116.4
hgncid	37099
symbol	TMEM88B
name	transmembrane protein 88B
refseq_nuc	NM_001146685.2
refseq_prot	NP_001140157.1
ensembl_nuc	ENST00000378821.4
ensembl_prot	ENSP00000455099.1
mane_status	MANE Select
chr	chr1
start	1425871
end	1430255
strand	+
ver	v1.2
region	chr1:1425871-1430255
region5000	chr1:1420871-1435255
regionname0	TMEM88B_chr1_1425871_1430255
regionname5000	TMEM88B_chr1_1420871_1435255

ahapid	grch38/ chm13v2	alen	total	AFR	AMR	EAS	EUR	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	1/1	163	2	0	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
a0002	0/0	163	1	1	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
a0003	0/0	163	1	1	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255

chapid	grch38/ chm13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
c0001	1/1	492	2	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
c0002	0/0	492	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
c0003	0/0	492	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255

thapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
t0001	0/0	3100	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
t0002	1/0	2726	1	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
t0003	0/1	3202	1	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
t0004	0/0	3234	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255

ghapid	grch38/ chm13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
g0001	1/0	1	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255
g0002	0/1	1	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255
g0003	0/0	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255
g0004	0/0	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255

achapid	grch38/ chm13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	1/1	492	2	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
a0002c0002	0/0	492	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
a0003c0003	0/0	492	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0002	1/0	3217	1	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
a0001c0001t0003	0/1	3693	1	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
a0002c0002t0001	0/0	3591	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255
a0003c0003t0004	0/0	3725	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	copy fasta	chr1	1420871	1435255

actghapid	grch38/ chm13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
a0001c0001t0002g0001	1/0	1	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255
a0001c0001t0003g0002	0/1	1	0	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255
a0002c0002t0001g0004	0/0	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255
a0003c0003t0004g0003	0/0	1	1	0	0	0	0	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG02922	hp1	a0002	c0002	t0001	g0004	AFR	ESN	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255
HG02922	hp2	a0003	c0003	t0004	g0003	AFR	ESN	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255
homoSapiens_chm13v2	hp1	a0001	c0001	t0003	g0002	REF	REF	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255
homoSapiens_grch38	hp1	a0001	c0001	t0002	g0001	REF	REF	TMEM88B_chr1_1420871_1435255	TMEM88B	chr1	1420871	1435255

chr:pos	ref	alt	# # of ahapid:amino-acid(protein) level	ahapids	# # of haplotypeids	haplotypeids	annotation	impact	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	pos
chr1:1426261	C C	T T	2	a0002 a0003 a0002 a0003	2	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	missense_variant	MODERATE	c.134C>T c.134C>T	p.Pro45Leu p.Pro45Leu	TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/2	391/3217	134/492	45/163			chr1	1426261
chr1:1426356	G G	A A	1	a0002 a0002	1	HG02922.hp1 HG02922.hp1	missense_variant	MODERATE	c.229G>A c.229G>A	p.Val77Ile p.Val77Ile	TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/2	486/3217	229/492	77/163			chr1	1426356

chr:pos	ref	alt	# # of chapid	chapids	# # of haplotypeids	haplotypeids	annotation	impact	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	pos
chr1:1426175	T T	C C	1	a0002c0002 a0002c0002	1	HG02922.hp1 HG02922.hp1	synonymous_variant	LOW	c.48T>C c.48T>C	p.Gly16Gly p.Gly16Gly	TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/2	305/3217	48/492	16/163			chr1	1426175

chr:pos	ref	alt	# # of thapid:transcript level	thapids	# # of haplotypeids	haplotypeids	annotation	impact	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	pos
chr1:1427992	G G	A A	1	a0002c0002t0001 a0002c0002t0001	1	HG02922.hp1 HG02922.hp1	3_prime_UTR_variant	MODIFIER	c.205G>A c.205G>A		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				205		chr1	1427992
chr1:1427995	A A	G G	1	a0002c0002t0001 a0002c0002t0001	1	HG02922.hp1 HG02922.hp1	3_prime_UTR_variant	MODIFIER	c.208A>G c.208A>G		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				208		chr1	1427995
chr1:1428000	A A	AGGGGAGG others(419): Show AGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGG AGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGAAGAG AGGGGAGGGGAGGGGAGGGGAAGAGGGGAGGGGAGGGGAAGGGAGGGGAC GGGAGGGGAAGGGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGGAAGAGAG GGGAGGGGAGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGCAGGGGAGG GGGAGAGAGGGCAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGG GGAGGGGAGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGG GAAGAGGGGAGGGGAGGGGAAGAGGGGAGGGGAGGGGGAGAGAGGGCAGG GGAGGGGGAGAGAGGGCAGGGGAGGGG	1	a0001c0001t0003 a0001c0001t0003	1	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	3_prime_UTR_variant	MODIFIER	c.247_248insGAGAGA others(420): Show c.247_248insGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGA GGGGGAGAGAGGGGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGGAGGGGA AGAGGGGAGGGGAGGGGAAGGGAGGGGACGGGAGGGGAAGGGAGGGGAGG GGAAGAGAGGGGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGGAGAGAGGG GAGGGGAGGGGGAGAGAGGGCAGGGGAGGGGGAGAGAGGGCAGGGGAGGG GGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGAGAGAGGGG AGGGGAGGGGGAGAGAGGGGAGGGGAGGGGAAGAGGGGAGGGGAGGGGAA GAGGGGAGGGGAGGGGGAGAGAGGGCAGGGGAGGGGGAGAGAGGGCAGGG GAGGGGGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGG		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				248	INFO_REALIGN_3_PRIME	chr1	1428000
chr1:1428023	G G	GGAGGGGA others(88): Show GGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGG GGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGA	1	a0002c0002t0001 a0002c0002t0001	1	HG02922.hp1 HG02922.hp1	3_prime_UTR_variant	MODIFIER	c.247_248insGAGAGA others(89): Show c.247_248insGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGA GGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGA GGGGAGGGG		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				248	INFO_REALIGN_3_PRIME	chr1	1428023
chr1:1428023	G G	GGAGGGGA others(451): Show GGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGG GGGAGAGAGGGGAGGGGAGGGGGGGAGAGAGGGGAGGGGAGGGGGAGAGA GGGGAGGGGAGGGAGGGGAAGAGGGGAGGGGGAGGGGAAGAGAGGGGACG GGAGGGGAAGAGGGAGGGGAGGGGGAGGGGAGGGGAAGAGAGGGCAGGGG AGGGGGAGAGAGGGCATGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAG AGGGGAGGGGAGGGGGAGAGAGGGGGAGGGGAGGGGGAGAGAGGGGAGGG GAGGGGAGGGGAAGAGGGGAGGGAGGGGAAGAGGGGAGGGGAGGGGGAGA GAGGGCAGGGGAGGGGGAGAGAGGGCAGGGGAGGGGGAGAGAGGGCAGGG GAGGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGAGG GGAGGGGAA	1	a0003c0003t0004 a0003c0003t0004	1	HG02922.hp2 HG02922.hp2	3_prime_UTR_variant	MODIFIER	c.247_248insGAGAGA others(452): Show c.247_248insGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGA GGGGGAGAGAGGGGAGGGGAGGGGGGGAGAGAGGGGAGGGGAGGGGGAGA GAGGGGAGGGGAGGGAGGGGAAGAGGGGAGGGGGAGGGGAAGAGAGGGGA CGGGAGGGGAAGAGGGAGGGGAGGGGGAGGGGAGGGGAAGAGAGGGCAGG GGAGGGGGAGAGAGGGCATGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAG AGAGGGGAGGGGAGGGGGAGAGAGGGGGAGGGGAGGGGGAGAGAGGGGAG GGGAGGGGAGGGGAAGAGGGGAGGGAGGGGAAGAGGGGAGGGGAGGGGGA GAGAGGGCAGGGGAGGGGGAGAGAGGGCAGGGGAGGGGGAGAGAGGGCAG GGGAGGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGA GGGGAGGGGAAGAGGGGAGGGG		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				248	INFO_REALIGN_3_PRIME	chr1	1428023
chr1:1428069	G G	C C	1	a0002c0002t0001 a0002c0002t0001	1	HG02922.hp1 HG02922.hp1	3_prime_UTR_variant	MODIFIER	c.282G>C c.282G>C		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				282		chr1	1428069
chr1:1428120	G G	GAGAGGGG others(287): Show GAGAGGGGAGGGGAGGGGAGGGGGAGAGAGGGCAGGGGGGAGGGGAGAGG GGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGG GGAAGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGG AGGGGGAGAGAGGGGAGGGGAGGGGAGGGGAGGGGAAGAGGGGAGGGGAG GGGAAGAGAGGGGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGGAAGAGGG GAGGGCAGGGGAAGAGAGGGGCGGGGAGGGGAGGTGAGAGAGGGT	1	a0002c0002t0001 a0002c0002t0001	1	HG02922.hp1 HG02922.hp1	3_prime_UTR_variant	MODIFIER	c.335_336insAGGGGA others(288): Show c.335_336insAGGGGAGGGGAGGGGAGGGGGAGAGAGGGCAGGGGG GAGGGGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAG GGGAGGGGAGGGGAAGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGA GAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGAGGGGAGGGGAAGA GGGGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGGAAGAGAGGGGAGGGGA GGGGAAGAGGGGAGGGCAGGGGAAGAGAGGGGCGGGGAGGGGAGGTGAGA GAGGGTAG		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				336	INFO_REALIGN_3_PRIME	chr1	1428120
chr1:1428120	G G	GAGGGGAG others(43): Show GAGGGGAGGGCAGGGGAAGAGAGGGGCGGGGAGGGGAGGGGAAGAGAGGG T	1	a0001c0001t0003 a0001c0001t0003	1	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	3_prime_UTR_variant	MODIFIER	c.342_343insCAGGGG others(44): Show c.342_343insCAGGGGAAGAGAGGGGCGGGGAGGGGAGGGGAAGAG AGGGTAGGGGAGGG		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				343	INFO_REALIGN_3_PRIME	chr1	1428120
chr1:1428128	G G	GGCAGGGG others(43): Show GGCAGGGGAAGAGAGGGGCGGGAGGGGAGGGGAAGAGAGGGTAGGGGAGG C	1	a0003c0003t0004 a0003c0003t0004	1	HG02922.hp2 HG02922.hp2	3_prime_UTR_variant	MODIFIER	c.342_343insCAGGGG others(44): Show c.342_343insCAGGGGAAGAGAGGGGCGGGAGGGGAGGGGAAGAGA GGGTAGGGGAGGCG		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				343	INFO_REALIGN_3_PRIME	chr1	1428128
chr1:1428172	GGAGAGGG others(8): Show GGAGAGGGGAGGGGAA	G G	1	a0002c0002t0001 a0002c0002t0001	1	HG02922.hp1 HG02922.hp1	3_prime_UTR_variant	MODIFIER	c.398_412delGAAGAG others(9): Show c.398_412delGAAGAGAGGGGAGGG		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				398	INFO_REALIGN_3_PRIME	chr1	1428172
chr1:1428427	G G	C C	1	a0002c0002t0001 a0002c0002t0001	1	HG02922.hp1 HG02922.hp1	3_prime_UTR_variant	MODIFIER	c.640G>C c.640G>C		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				640		chr1	1428427
chr1:1428542	A A	G G	1	a0003c0003t0004 a0003c0003t0004	1	HG02922.hp2 HG02922.hp2	3_prime_UTR_variant	MODIFIER	c.755A>G c.755A>G		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				755		chr1	1428542
chr1:1428763	A A	G G	1	a0002c0002t0001 a0002c0002t0001	1	HG02922.hp1 HG02922.hp1	3_prime_UTR_variant	MODIFIER	c.976A>G c.976A>G		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				976		chr1	1428763
chr1:1428969	T T	C C	2	a0002c0002t0001 a0003c0003t0004 a0002c0002t0001 a0003c0003t0004	2	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	3_prime_UTR_variant	MODIFIER	c.1182T>C c.1182T>C		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				1182		chr1	1428969
chr1:1429754	A A	G G	1	a0002c0002t0001 a0002c0002t0001	1	HG02922.hp1 HG02922.hp1	3_prime_UTR_variant	MODIFIER	c.1967A>G c.1967A>G		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				1967		chr1	1429754
chr1:1429954	A A	G G	3	a0001c0001t0003 a0002c0002t0001 a0003c0003t0004 a0001c0001t0003 a0002c0002t0001 a0003c0003t0004	3	HG02922.hp1 HG02922.hp2 homoSapiens_chm13v2.hp1 HG02922.hp1 HG02922.hp2 homoSapiens_chm13v2.hp1	3_prime_UTR_variant	MODIFIER	c.2167A>G c.2167A>G		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				2167		chr1	1429954
chr1:1430190	A A	C C	2	a0002c0002t0001 a0003c0003t0004 a0002c0002t0001 a0003c0003t0004	2	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	3_prime_UTR_variant	MODIFIER	c.2403A>C c.2403A>C		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				2403		chr1	1430190

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	genebody_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	pos
chr1:1426507	C C	G G	1	a0002c0002t0001g0004 a0002c0002t0001g0004	1	HG02922.hp1 HG02922.hp1	intron_variant	MODIFIER	c.258+122C>G c.258+122C>G		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/1						chr1	1426507
chr1:1426580	G G	A A	1	a0002c0002t0001g0004 a0002c0002t0001g0004	1	HG02922.hp1 HG02922.hp1	intron_variant	MODIFIER	c.258+195G>A c.258+195G>A		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/1						chr1	1426580
chr1:1426810	C C	G G	2	a0002c0002t0001g0004 a0003c0003t0004g0003 a0002c0002t0001g0004 a0003c0003t0004g0003	2	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	intron_variant	MODIFIER	c.258+425C>G c.258+425C>G		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/1						chr1	1426810
chr1:1426982	C C	A A	1	a0002c0002t0001g0004 a0002c0002t0001g0004	1	HG02922.hp1 HG02922.hp1	intron_variant	MODIFIER	c.259-572C>A c.259-572C>A		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/1						chr1	1426982
chr1:1427447	T T	TTCCCCTC others(899): Show TTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCATCCCGCCCGC TCCCCTCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCAGCCCCCAC CCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCCCTCC CCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCC CTCCCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTG CCCCTTCCCCTCCATCACCCTGCCTGCCCTTCCCTCCATCACCCTGCCCT GCCCCCTCCCCTCCATCACCCTGCCCTGCTCCCTCTTCTCCCCTTCCCTC CATCATCCCGCCCGCTCCCCTTTCCACCCCTCCCCCCTCCCCTCCATCAC CCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCA TCATCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTCCATCACCCT GCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCA TCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTCCATCACCCTGCC CTGCCCCCACCCCTCCATCACCCTGCCCTGCCCCCACCCCATCACCCTGC CCTGCCCCCTTCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCC CTTCCCCTGCATCACCGTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCT GCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTG CCCTGCCCCCACCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCC CCTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCC AGCCCCC	1	a0002c0002t0001g0004 a0002c0002t0001g0004	1	HG02922.hp1 HG02922.hp1	intron_variant	MODIFIER	c.259-87_259-86insTG others(904): Show c.259-87_259-86insTGCCCCCTCCCCTCCATCATCCCGCCCGCTCC CCTCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCAGCCCCCACCCC TCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCCCTCCCCT CCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTC CCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCC CTTCCCCTCCATCACCCTGCCTGCCCTTCCCTCCATCACCCTGCCCTGCC CCCTCCCCTCCATCACCCTGCCCTGCTCCCTCTTCTCCCCTTCCCTCCAT CATCCCGCCCGCTCCCCTTTCCACCCCTCCCCCCTCCCCTCCATCACCCT GCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCA TCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTCCATCACCCTGCC CAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCATCC CGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTCCATCACCCTGCCCTG CCCCCACCCCTCCATCACCCTGCCCTGCCCCCACCCCATCACCCTGCCCT GCCCCCTTCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCCTT CCCCTGCATCACCGTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGCC CCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCC TGCCCCCACCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCCT TCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCAGC CCCCTCCCCTCCATCACCCTGCCC		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr1	1427447
chr1:1427468	A A	AGCCCCCT others(1084): Show AGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCATCCC GCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCAGC CCCCACCCCTCCATCACCCTGCCCTGCCCCCCTCCCCTCCATCACCCTGC CCTGCCCCCTCCCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACC CTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCAGCCCCTCCCCTCCATC ACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGCCCCTTCCCCTC CATCACCCTGCCCTGCCCCTCCCCTCCATCACCCTGCCCTGCTCCCCTCT TCTCCCCCTTCCCTCCATCATCCCGCCCGCTCCCCTTTCCACCCCTCCCC CTCCCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTG CCCCCTCCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTC CCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCC CCCTCCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCC CTCCATCACCCTGCCCTGCCCCCACCCCTCCATCACCCTGCCCTGCCCCC ACCCCATCACCCTGCCCTGCCCCCTTCCCTCCATCATCCCGCCCGCTCCC CTCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCT CCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTC CCCTCCATCACCCTGCCCTGCCCCCACCCTCCATCATCCCGCCCGCTCCC CTCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCT CCATCCCCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTC CCCTCCATCACCCTGCCCTGCCCCCACCCCTCCATCATCCCGCCCGCTCC CCTCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCC TCCATCACCCTGCCCAGCCCCTCCCCTCCATCACCCTGCCCT	1	a0003c0003t0004g0003 a0003c0003t0004g0003	1	HG02922.hp2 HG02922.hp2	intron_variant	MODIFIER	c.259-53_259-52insTC others(1089): Show c.259-53_259-52insTCCCCTCCATCATCCCGCCCGCTCCCCTCTCC ACCCCTCCCCTTCCCCTGCATCACCCTGCCCAGCCCCCACCCCTCCATCA CCCTGCCCTGCCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTC CATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCC CCTCCATCACCCTGCCCAGCCCCTCCCCTCCATCACCCTGCCCTGCCCCT TCCCCTCCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGC CCCTCCCCTCCATCACCCTGCCCTGCTCCCCTCTTCTCCCCCTTCCCTCC ATCATCCCGCCCGCTCCCCTTTCCACCCCTCCCCCTCCCCTCCATCACCC TGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATC ATCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTCCATCACCCTGC CCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCCTCCCCTCCATCAT CCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTCCATCACCCTGCCC TGCCCCCACCCCTCCATCACCCTGCCCTGCCCCCACCCCATCACCCTGCC CTGCCCCCTTCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCC TTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTG CCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGC CCTGCCCCCACCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCC TTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTCCATCCCCCTGCCCTG CCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGC CCTGCCCCCACCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCC CTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCA GCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGC CCTGCCCCC		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr1	1427468
chr1:1427468	A A	AGCCCCCT others(1948): Show AGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCTCCCCTCCATCATCCCG CCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCAGCC CCCACCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCC TGCCCCCCTCCCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCC TGCCCTGCCCCCTCCCCTCCATCACCCTGCCCAGCCCCCCTCCCCTCCAT CACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGCCCCTTCCCCT CCATCACCCTGCCCTGCCCCCCTCCCCTCCATCACCTGCCCTGCTCCCCT CTTCTCCCCCTTCCCTCCATCATCCCGCCCGCTCCCCTTTCCACCCCTCC CCCTCCCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCC TGCCCCCTCCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCCT TCCCCTCCATCACCCTGCCCAGCTCCCTCCCCTCCATCACCCTGCCCTGC CCCCTCCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCC CCTCCATCACCCTGCCCTGCCCCACCCCTCCATCACCCTGCCCTGCCCCA CCCCATCACCCTGCCCTGCCCCCTTCCCTCCATCATCCCGCCCGCTCCCC TCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTC CATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCTCCC CTCCATCACCCTGCCCTGCCCCCACCCCTCCATCATCCCGCCCGCTCCCC TCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTC CATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCTCCC CTCCATCACCCTGCCCTGCCCCCACCCCTCCATCATCCCGCCCGCTCCCC TCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTC CATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCAGCCCCCTCC CCTCCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGCCCC TTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTG CTCCCCTCTTCTCCCCCTTCCCTCCATCATCCCGCCCGCTCCCCTTTCCA CCCCTCCCCCTCCCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCAC CCTGCCCTGCCCCCTCCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCC CTCCCCTTCCCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCT GCCCTGCCCCCTCCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTC CCCTTCCCCTCCATCACCCTGCCCTGCCCCCACCCTCCATCACCCTGCCC TGCCCCCACCCCATCACCCTGCCCTGCCCCCTTCCCTCCATCATCCCGCC CGCTCCCCTCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCTGCCCC TTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCCCTCCATCACCCTG CCCTGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCACCCCTCCATCAT CCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCC TGCCCCTTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCT GCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCACCCCTCCATCA TCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCC CTGCCCCTTCCCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCC TGCCCT	1	a0001c0001t0003g0002 a0001c0001t0003g0002	1	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.259-54_259-53insTC others(1953): Show c.259-54_259-53insTCCCCTCCATCATCCCGCCCGCTCCCCTCTCC ACCCCTCCCCTTCCCCTGCATCACCCTGCCCAGCCCCCACCCCTCCATCA CCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCCTCCCCTC CATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCC CCTCCATCACCCTGCCCAGCCCCCCTCCCCTCCATCACCCTGCCCTGCCC CTTCCCCTCCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCT GCCCCCCTCCCCTCCATCACCTGCCCTGCTCCCCTCTTCTCCCCCTTCCC TCCATCATCCCGCCCGCTCCCCTTTCCACCCCTCCCCCTCCCCTCCATCA CCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCC ATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTCCATCACCC TGCCCAGCTCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATC ATCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTCCATCACCCTGC CCTGCCCCACCCCTCCATCACCCTGCCCTGCCCCACCCCATCACCCTGCC CTGCCCCCTTCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCC TTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTG CCCCCTCCCCTCCATCACCCTGCCCTGCCCCTCCCCTCCATCACCCTGCC CTGCCCCCACCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCC TTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTG CCCCCTCCCCTCCATCACCCTGCCCTGCCCCTCCCCTCCATCACCCTGCC CTGCCCCCACCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCC TTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCAG CCCCCTCCCCTCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGC CCTGCCCCTTCCCCTCCATCACCCTGCCCTGCCCCTTCCCCTCCATCACC CTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGCTCCCCTCTTCTCCC CCTTCCCTCCATCATCCCGCCCGCTCCCCTTTCCACCCCTCCCCCTCCCC TCCATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCT CCCCTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTCC ATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCC CTCCATCATCCCGCCCGCTCCCCTCTCCACCCCTCCCCTTCCCCTCCATC ACCCTGCCCTGCCCCCACCCTCCATCACCCTGCCCTGCCCCCACCCCATC ACCCTGCCCTGCCCCCTTCCCTCCATCATCCCGCCCGCTCCCCTCTCCAC CCCTCCCCTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTCCATCACC CTGCCCTGCCCCCTCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCCC TCCATCACCCTGCCCTGCCCCCACCCCTCCATCATCCCGCCCGCTCCCCT CTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTCC ATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCCC CTCCATCACCCTGCCCTGCCCCCACCCCTCCATCATCCCGCCCGCTCCCC TCTCCACCCCTCCCCTTCCCCTGCATCACCCTGCCCTGCCCCTTCCCCTC CATCACCCTGCCCAGCCCCCTCCCCTCCATCACCCTGCCCTGCCCCCTCC CCTCCATCACCCTGCCCTGCCCC		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr1	1427468
chr1:1427468	A A	T T	1	a0002c0002t0001g0004 a0002c0002t0001g0004	1	HG02922.hp1 HG02922.hp1	intron_variant	MODIFIER	c.259-86A>T c.259-86A>T		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	1/1						chr1	1427468