Joint Open Genome and Omics Platform (JoGo)

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geneid	84163
ensemblid	ENSG00000196275.16
hgncid	30775
symbol	GTF2IRD2
name	GTF2I repeat domain containing 2
refseq_nuc	NM_173537.5
refseq_prot	NP_775808.4
ensembl_nuc	ENST00000451013.7
ensembl_prot	ENSP00000406723.3
mane_status	MANE Select
chr	chr7
start	74796151
end	74851605
strand	-
ver	v1.2
region	chr7:74796151-74851605
region5000	chr7:74791151-74856605
regionname0	GTF2IRD2_chr7_74796151_74851605
regionname5000	GTF2IRD2_chr7_74791151_74856605

ahapid	grch38/ chm13v2	alen	total	AFR	AMR	SAS	regionname	genename	aa	chr	start	end
a0001	0/0	949	3	1	0	2	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0002	0/1	949	2	1	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0003	0/0	949	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0004	0/0	949	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0005	1/0	949	1	0	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605

chapid	grch38/ chm13v2	clen	total	AFR	AMR	SAS	regionname	genename	cseq	chr	start	end
c0001	0/0	2850	3	1	0	2	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
c0002	0/1	2850	2	1	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
c0003	1/0	2850	1	0	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
c0004	0/0	2850	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
c0005	0/0	2850	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605

thapid	grch38 chm13v2	tlen	total	AFR	AMR	SAS	regionname	genename	tseq	chr	start	end
t0001	1/1	756	5	1	1	1	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
t0002	0/0	756	2	1	0	1	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
t0003	0/0	756	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605

ghapid	grch38/ chm13v2	total	AFR	AMR	SAS	regionname	genename	chr	start	end
g0001	0/0	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
g0002	0/0	1	0	0	1	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
g0003	0/0	1	1	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
g0004	0/0	1	1	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
g0005	0/1	1	0	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
g0006	0/0	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
g0007	1/0	1	0	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
g0008	0/0	1	0	0	1	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605

achapid	grch38/ chm13v2	clen	total	AFR	AMR	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	0/0	2850	3	1	0	2	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0002c0002	0/1	2850	2	1	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0003c0005	0/0	2850	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0004c0004	0/0	2850	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0005c0003	1/0	2850	1	0	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/0	3605	1	0	0	1	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0001c0001t0002	0/0	3605	2	1	0	1	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0002c0002t0001	0/1	3605	2	1	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0003c0005t0003	0/0	3605	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0004c0004t0001	0/0	3605	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605
a0005c0003t0001	1/0	3605	1	0	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	copy fasta	chr7	74791151	74856605

actghapid	grch38/ chm13v2	total	AFR	AMR	SAS	regionname	genename	chr	start	end
a0001c0001t0001g0008	0/0	1	0	0	1	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
a0001c0001t0002g0002	0/0	1	0	0	1	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
a0001c0001t0002g0003	0/0	1	1	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
a0002c0002t0001g0004	0/0	1	1	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
a0002c0002t0001g0005	0/1	1	0	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
a0003c0005t0003g0001	0/0	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
a0004c0004t0001g0006	0/0	1	0	1	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
a0005c0003t0001g0007	1/0	1	0	0	0	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG01109	hp1	a0003	c0005	t0003	g0001	AMR	PUR	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
HG01109	hp2	a0004	c0004	t0001	g0006	AMR	PUR	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
HG02965	hp1	a0002	c0002	t0001	g0004	AFR	ESN	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
HG02965	hp2	a0001	c0001	t0002	g0003	AFR	ESN	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
HG03654	hp1	a0001	c0001	t0001	g0008	SAS	PJL	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
HG03654	hp2	a0001	c0001	t0002	g0002	SAS	PJL	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
homoSapiens_chm13v2	hp1	a0002	c0002	t0001	g0005	REF	REF	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605
homoSapiens_grch38	hp1	a0005	c0003	t0001	g0007	REF	REF	GTF2IRD2_chr7_74791151_74856605	GTF2IRD2	chr7	74791151	74856605

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	chr	pos
chr7:74797024	G G	T T	4	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	7	HG01109.hp1 HG01109.hp2 HG02965.hp1 others(4): Show HG01109.hp1 HG01109.hp2 HG02965.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2 homoSapiens_chm13v2.hp1	missense_variant	MODERATE	c.2488C>A c.2488C>A	p.Gln830Lys p.Gln830Lys	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	16/16	2732/3605	2488/2850	830/949	chr7	74797024
chr7:74797697	G G	C C	2	a0001 a0003 a0001 a0003	4	HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	missense_variant	MODERATE	c.1815C>G c.1815C>G	p.Asn605Lys p.Asn605Lys	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	16/16	2059/3605	1815/2850	605/949	chr7	74797697
chr7:74797972	T T	G G	1	a0003 a0003	1	HG01109.hp1 HG01109.hp1	missense_variant	MODERATE	c.1540A>C c.1540A>C	p.Asn514His p.Asn514His	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	16/16	1784/3605	1540/2850	514/949	chr7	74797972
chr7:74798013	G G	A A	2	a0001 a0003 a0001 a0003	4	HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	missense_variant	MODERATE	c.1499C>T c.1499C>T	p.Ser500Leu p.Ser500Leu	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	16/16	1743/3605	1499/2850	500/949	chr7	74798013
chr7:74822675	G G	A A	2	a0003 a0004 a0003 a0004	2	HG01109.hp1 HG01109.hp2 HG01109.hp1 HG01109.hp2	missense_variant	MODERATE	c.491C>T c.491C>T	p.Thr164Ile p.Thr164Ile	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	5/16	735/3605	491/2850	164/949	chr7	74822675

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	chr	pos
chr7:74797709	T T	C C	2	a0001c0001 a0003c0005 a0001c0001 a0003c0005	4	HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	synonymous_variant	LOW	c.1803A>G c.1803A>G	p.Lys601Lys p.Lys601Lys	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	16/16	2047/3605	1803/2850	601/949	chr7	74797709
chr7:74798012	T T	C C	2	a0001c0001 a0003c0005 a0001c0001 a0003c0005	4	HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	synonymous_variant	LOW	c.1500A>G c.1500A>G	p.Ser500Ser p.Ser500Ser	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	16/16	1744/3605	1500/2850	500/949	chr7	74798012
chr7:74824988	T T	C C	1	a0001c0001 a0001c0001	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	synonymous_variant	LOW	c.303A>G c.303A>G	p.Ser101Ser p.Ser101Ser	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	4/16	547/3605	303/2850	101/949	chr7	74824988

chr:pos	ref	alt	# # of thapid:transcript level	thapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	chr	pos
chr7:74796184	T T	C C	1	a0003c0005t0003 a0003c0005t0003	1	HG01109.hp1 HG01109.hp1	3_prime_UTR_variant	MODIFIER	c.478A>G c.478A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	16/16	478	chr7	74796184
chr7:74851453	A A	G G	2	a0001c0001t0002 a0003c0005t0003 a0001c0001t0002 a0003c0005t0003	3	HG01109.hp1 HG02965.hp2 HG03654.hp2 HG01109.hp1 HG02965.hp2 HG03654.hp2	5_prime_UTR_variant	MODIFIER	c.-92T>C c.-92T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/16	15075	chr7	74851453
chr7:74851505	A A	G G	2	a0001c0001t0002 a0003c0005t0003 a0001c0001t0002 a0003c0005t0003	3	HG01109.hp1 HG02965.hp2 HG03654.hp2 HG01109.hp1 HG02965.hp2 HG03654.hp2	5_prime_UTR_variant	MODIFIER	c.-144T>C c.-144T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/16	15127	chr7	74851505

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	genebody_biotype	rank	chr	pos
chr7:74798786	A A	G G	4	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001	4	HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.1247-521T>C c.1247-521T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	15/15	chr7	74798786
chr7:74799305	G G	A A	1	a0003c0005t0003g0001 a0003c0005t0003g0001	1	HG01109.hp1 HG01109.hp1	intron_variant	MODIFIER	c.1247-1040C>T c.1247-1040C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	15/15	chr7	74799305
chr7:74799921	C C	CAA CAA	4	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001	4	HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.1247-1658_1247-165 others(6): Show c.1247-1658_1247-1657dupTT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	15/15	chr7	74799921
chr7:74800374	G G	A A	1	a0003c0005t0003g0001 a0003c0005t0003g0001	1	HG01109.hp1 HG01109.hp1	intron_variant	MODIFIER	c.1246+1611C>T c.1246+1611C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	15/15	chr7	74800374
chr7:74800456	G G	C C	7	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(4): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006	7	HG01109.hp1 HG01109.hp2 HG02965.hp1 others(4): Show HG01109.hp1 HG01109.hp2 HG02965.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.1246+1529C>G c.1246+1529C>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	15/15	chr7	74800456
chr7:74801185	A A	G G	4	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001	4	HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.1246+800T>C c.1246+800T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	15/15	chr7	74801185
chr7:74802053	A A	G G	1	a0002c0002t0001g0004 a0002c0002t0001g0004	1	HG02965.hp1 HG02965.hp1	intron_variant	MODIFIER	c.1218-40T>C c.1218-40T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	14/15	chr7	74802053
chr7:74802202	G G	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.1218-189C>A c.1218-189C>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	14/15	chr7	74802202
chr7:74802217	C C	T T	4	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001	4	HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.1218-204G>A c.1218-204G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	14/15	chr7	74802217
chr7:74803051	C C	T T	1	a0002c0002t0001g0005 a0002c0002t0001g0005	1	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.1217+247G>A c.1217+247G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	14/15	chr7	74803051
chr7:74803284	C C	T T	2	a0002c0002t0001g0005 a0004c0004t0001g0006 a0002c0002t0001g0005 a0004c0004t0001g0006	2	HG01109.hp2 homoSapiens_chm13v2.hp1 HG01109.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.1217+14G>A c.1217+14G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	14/15	chr7	74803284
chr7:74803874	T T	A A	4	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001	4	HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.1034-393A>T c.1034-393A>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	13/15	chr7	74803874
chr7:74805229	T T	C C	4	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001	4	HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.950-369A>G c.950-369A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	12/15	chr7	74805229
chr7:74805699	C C	CTGCACCC others(185): Show CTGCACCCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGCACCCACCACCACACCAGCTGATTTTTGTATTTTTA GTAAAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGAC CTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATT	1	a0003c0005t0003g0001 a0003c0005t0003g0001	1	HG01109.hp1 HG01109.hp1	intron_variant	MODIFIER	c.950-1031_950-840du others(193): Show c.950-1031_950-840dupAATCCCAGCACTTTGGGAGGCTGAGGCAG GTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGA AACCCCATCTTTACTAAAAATACAAAAATCAGCTGGTGTGGTGGTGGGTG CCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACC CAGGAGGGGTGCA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	12/15	chr7	74805699
chr7:74806349	A A	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.949+585T>C c.949+585T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	12/15	chr7	74806349
chr7:74806410	C C	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.949+524G>A c.949+524G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	12/15	chr7	74806410
chr7:74806557	G G	A A	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.949+377C>T c.949+377C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	12/15	chr7	74806557
chr7:74807483	G G	A A	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.872-472C>T c.872-472C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	11/15	chr7	74807483
chr7:74807881	C C	G G	1	a0001c0001t0002g0002 a0001c0001t0002g0002	1	HG03654.hp2 HG03654.hp2	intron_variant	MODIFIER	c.872-870G>C c.872-870G>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	11/15	chr7	74807881
chr7:74808180	T T	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.871+928A>C c.871+928A>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	11/15	chr7	74808180
chr7:74808701	T T	C C	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.871+407A>G c.871+407A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	11/15	chr7	74808701
chr7:74808864	A A	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.871+244T>C c.871+244T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	11/15	chr7	74808864
chr7:74809596	C C	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.806-423G>A c.806-423G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	10/15	chr7	74809596
chr7:74809641	C C	CA CA	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.806-469dupT c.806-469dupT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	10/15	chr7	74809641
chr7:74809781	T T	TTTA TTTA	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.806-611_806-609dup others(3): Show c.806-611_806-609dupTAA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	10/15	chr7	74809781
chr7:74809880	G G	A A	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.806-707C>T c.806-707C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	10/15	chr7	74809880
chr7:74810599	A A	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.805+297T>C c.805+297T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	10/15	chr7	74810599
chr7:74810807	GA GA	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.805+88delT c.805+88delT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	10/15	chr7	74810807
chr7:74811044	A A	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.749-92T>C c.749-92T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	9/15	chr7	74811044
chr7:74811101	G G	A A	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.749-149C>T c.749-149C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	9/15	chr7	74811101
chr7:74811535	T T	C C	3	a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006 a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006	3	HG01109.hp1 HG01109.hp2 homoSapiens_chm13v2.hp1 HG01109.hp1 HG01109.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.749-583A>G c.749-583A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	9/15	chr7	74811535
chr7:74811576	C C	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.749-624G>A c.749-624G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	9/15	chr7	74811576
chr7:74811855	A A	AT AT	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.748+883dupA c.748+883dupA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	9/15	chr7	74811855
chr7:74812278	G G	C C	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.748+461C>G c.748+461C>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	9/15	chr7	74812278
chr7:74812391	C C	CA CA	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.748+347dupT c.748+347dupT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	9/15	chr7	74812391
chr7:74812560	G G	A A	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.748+179C>T c.748+179C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	9/15	chr7	74812560
chr7:74812627	A A	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.748+112T>A c.748+112T>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	9/15	chr7	74812627
chr7:74813118	C C	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-302G>A c.671-302G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74813118
chr7:74813141	G G	A A	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-325C>T c.671-325C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74813141
chr7:74813359	T T	C C	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-543A>G c.671-543A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74813359
chr7:74813399	G G	A A	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-583C>T c.671-583C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74813399
chr7:74813400	A A	AGAAG AGAAG	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-585_671-584ins others(4): Show c.671-585_671-584insCTTC	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74813400
chr7:74813478	G G	C C	2	a0003c0005t0003g0001 a0004c0004t0001g0006 a0003c0005t0003g0001 a0004c0004t0001g0006	2	HG01109.hp1 HG01109.hp2 HG01109.hp1 HG01109.hp2	intron_variant	MODIFIER	c.671-662C>G c.671-662C>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74813478
chr7:74813626	G G	C C	2	a0003c0005t0003g0001 a0004c0004t0001g0006 a0003c0005t0003g0001 a0004c0004t0001g0006	2	HG01109.hp1 HG01109.hp2 HG01109.hp1 HG01109.hp2	intron_variant	MODIFIER	c.671-810C>G c.671-810C>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74813626
chr7:74813939	T T	C C	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-1123A>G c.671-1123A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74813939
chr7:74814846	C C	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-2030G>C c.671-2030G>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74814846
chr7:74815276	A A	C C	2	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0002 a0001c0001t0002g0003	2	HG02965.hp2 HG03654.hp2 HG02965.hp2 HG03654.hp2	intron_variant	MODIFIER	c.671-2460T>G c.671-2460T>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74815276
chr7:74815366	G G	A A	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-2550C>T c.671-2550C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74815366
chr7:74815375	CG CG	C C	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-2560delC c.671-2560delC	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74815375
chr7:74815457	GA GA	G G	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-2642delT c.671-2642delT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74815457
chr7:74815517	G G	A A	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-2701C>T c.671-2701C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74815517
chr7:74815797	GGAAAGAA others(1): Show GGAAAGAAA	G G	2	a0001c0001t0002g0003 a0002c0002t0001g0004 a0001c0001t0002g0003 a0002c0002t0001g0004	2	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	intron_variant	MODIFIER	c.671-2989_671-2982d others(10): Show c.671-2989_671-2982delTTTCTTTC	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74815797
chr7:74815853	AGAAAG AGAAAG	A A	2	a0003c0005t0003g0001 a0004c0004t0001g0006 a0003c0005t0003g0001 a0004c0004t0001g0006	2	HG01109.hp1 HG01109.hp2 HG01109.hp1 HG01109.hp2	intron_variant	MODIFIER	c.671-3042_671-3038d others(7): Show c.671-3042_671-3038delCTTTC	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74815853
chr7:74816108	A A	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.671-3292T>C c.671-3292T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74816108
chr7:74816276	A A	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.670+3278T>C c.670+3278T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74816276
chr7:74816826	A A	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.670+2728T>C c.670+2728T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74816826
chr7:74817088	C C	CTG CTG	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.670+2465_670+2466i others(4): Show c.670+2465_670+2466insCA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74817088
chr7:74817656	TC TC	T T	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.670+1897delG c.670+1897delG	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74817656
chr7:74818002	C C	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.670+1552G>C c.670+1552G>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74818002
chr7:74818460	T T	C C	1	a0001c0001t0002g0003 a0001c0001t0002g0003	1	HG02965.hp2 HG02965.hp2	intron_variant	MODIFIER	c.670+1094A>G c.670+1094A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74818460
chr7:74818677	A A	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.670+877T>C c.670+877T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	8/15	chr7	74818677
chr7:74820429	C C	T T	1	a0001c0001t0002g0003 a0001c0001t0002g0003	1	HG02965.hp2 HG02965.hp2	intron_variant	MODIFIER	c.572-406G>A c.572-406G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74820429
chr7:74820592	G G	A A	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.572-569C>T c.572-569C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74820592
chr7:74821163	G G	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.572-1140C>A c.572-1140C>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74821163
chr7:74821636	T T	C C	7	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(4): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006	7	HG01109.hp1 HG01109.hp2 HG02965.hp1 others(4): Show HG01109.hp1 HG01109.hp2 HG02965.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.571+791A>G c.571+791A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74821636
chr7:74821855	AT AT	A A	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.571+571delA c.571+571delA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74821855
chr7:74821919	TA TA	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.571+507delT c.571+507delT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74821919
chr7:74821987	A A	G G	1	a0002c0002t0001g0004 a0002c0002t0001g0004	1	HG02965.hp1 HG02965.hp1	intron_variant	MODIFIER	c.571+440T>C c.571+440T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74821987
chr7:74822012	A A	G G	1	a0002c0002t0001g0004 a0002c0002t0001g0004	1	HG02965.hp1 HG02965.hp1	intron_variant	MODIFIER	c.571+415T>C c.571+415T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74822012
chr7:74822168	A A	T T	1	a0002c0002t0001g0004 a0002c0002t0001g0004	1	HG02965.hp1 HG02965.hp1	intron_variant	MODIFIER	c.571+259T>A c.571+259T>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74822168
chr7:74822189	C C	G G	4	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0002c0002t0001g0004	4	HG02965.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG02965.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.571+238G>C c.571+238G>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74822189
chr7:74822195	C C	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.571+232G>A c.571+232G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74822195
chr7:74822222	C C	T T	4	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0002c0002t0001g0004	4	HG02965.hp1 HG02965.hp2 HG03654.hp1 others(1): Show HG02965.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.571+205G>A c.571+205G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	6/15	chr7	74822222
chr7:74823084	T T	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.359-277A>C c.359-277A>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	4/15	chr7	74823084
chr7:74823632	AT AT	A A	7	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(4): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006	7	HG01109.hp1 HG01109.hp2 HG02965.hp1 others(4): Show HG01109.hp1 HG01109.hp2 HG02965.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.359-826delA c.359-826delA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	4/15	chr7	74823632
chr7:74823981	A A	G G	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.358+952T>C c.358+952T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	4/15	chr7	74823981
chr7:74824026	C C	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.358+907G>A c.358+907G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	4/15	chr7	74824026
chr7:74824027	A A	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.358+906T>C c.358+906T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	4/15	chr7	74824027
chr7:74824233	T T	C C	7	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(4): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006	7	HG01109.hp1 HG01109.hp2 HG02965.hp1 others(4): Show HG01109.hp1 HG01109.hp2 HG02965.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.358+700A>G c.358+700A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	4/15	chr7	74824233
chr7:74824469	GA GA	G G	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.358+463delT c.358+463delT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	4/15	chr7	74824469
chr7:74824760	C C	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.358+173G>A c.358+173G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	4/15	chr7	74824760
chr7:74824806	C C	T T	3	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003	3	HG02965.hp2 HG03654.hp1 HG03654.hp2 HG02965.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.358+127G>A c.358+127G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	4/15	chr7	74824806
chr7:74825988	A A	AG AG	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.239-937dupC c.239-937dupC	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74825988
chr7:74826031	T T	C C	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.239-979A>G c.239-979A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74826031
chr7:74826077	A A	AC AC	2	a0003c0005t0003g0001 a0004c0004t0001g0006 a0003c0005t0003g0001 a0004c0004t0001g0006	2	HG01109.hp1 HG01109.hp2 HG01109.hp1 HG01109.hp2	intron_variant	MODIFIER	c.239-1026dupG c.239-1026dupG	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74826077
chr7:74826320	C C	T T	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.239-1268G>A c.239-1268G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74826320
chr7:74826699	CT CT	C C	3	a0001c0001t0001g0008 a0003c0005t0003g0001 a0004c0004t0001g0006 a0001c0001t0001g0008 a0003c0005t0003g0001 a0004c0004t0001g0006	3	HG01109.hp1 HG01109.hp2 HG03654.hp1 HG01109.hp1 HG01109.hp2 HG03654.hp1	intron_variant	MODIFIER	c.239-1648delA c.239-1648delA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74826699
chr7:74827817	C C	CT CT	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.239-2766dupA c.239-2766dupA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74827817
chr7:74827889	G G	T T	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.239-2837C>A c.239-2837C>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74827889
chr7:74827907	A A	ACCTCCTG others(581): Show ACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGTGCATGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTACA GATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAG GTGATCCGCCAGCCTCAGCCTACCAGAGTGCTGGAATTACAGGTGTGAGC CACCACACCCAGCTGATATATATATTTTTAAAATAATAATAAAAAAGAAA AAAGGCCAATGTAAAAATGTATATATATATGCATTTTGTAGAGACAGGGT CTTGCCATGTTGCCCAGGCAGGTCTCAAACGCCTGGGCTCCAGCGATCCT CCCACCTCAGCCTCCCAAAGTGCTGGGATTACATATGTGAGCCACTGCAC CTGGCCCCTTCTGGAATTTTCTGGGACTTCGATAAGACTTGCTGGGAAGC CAGCTGGAGTATTAGTGGAAGTGACTGGGAAGCTGTGTGTGGTGGGGGTG TCACTAAAACTCACTGGAATGAGTGCCACACTGGGTATCCCAAATGCTGT TGGTCATCACAGGCAGGTGAGAGCTCACTGCAACCTCCG	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.239-2856_239-2855i others(590): Show c.239-2856_239-2855insCGGAGGTTGCAGTGAGCTCTCACCTGCC TGTGATGACCAACAGCATTTGGGATACCCAGTGTGGCACTCATTCCAGTG AGTTTTAGTGACACCCCCACCACACACAGCTTCCCAGTCACTTCCACTAA TACTCCAGCTGGCTTCCCAGCAAGTCTTATCGAAGTCCCAGAAAATTCCA GAAGGGGCCAGGTGCAGTGGCTCACATATGTAATCCCAGCACTTTGGGAG GCTGAGGTGGGAGGATCGCTGGAGCCCAGGCGTTTGAGACCTGCCTGGGC AACATGGCAAGACCCTGTCTCTACAAAATGCATATATATATACATTTTTA CATTGGCCTTTTTTCTTTTTTATTATTATTTTAAAAATATATATATCAGC TGGGTGTGGTGGCTCACACCTGTAATTCCAGCACTCTGGTAGGCTGAGGC TGGCGGATCACCTGAGGCCAGGAGTTTGAAACCAGCCTGGCCAACATGGT GAAACCCCATCTGTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAT GCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGA ACCCAGGAGG	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74827907
chr7:74828883	T T	C C	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.239-3831A>G c.239-3831A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74828883
chr7:74829464	C C	T T	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.238+3341G>A c.238+3341G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74829464
chr7:74829891	A A	AAAACAAA others(5): Show AAAACAAACAAAC	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.238+2913_238+2914i others(14): Show c.238+2913_238+2914insGTTTGTTTGTTT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74829891
chr7:74830671	G G	A A	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.238+2134C>T c.238+2134C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74830671
chr7:74831504	T T	TAC TAC	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.238+1299_238+1300d others(4): Show c.238+1299_238+1300dupGT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74831504
chr7:74831504	TAC TAC	T T	2	a0001c0001t0002g0003 a0002c0002t0001g0004 a0001c0001t0002g0003 a0002c0002t0001g0004	2	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	intron_variant	MODIFIER	c.238+1299_238+1300d others(4): Show c.238+1299_238+1300delGT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74831504
chr7:74831612	G G	A A	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.238+1193C>T c.238+1193C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	3/15	chr7	74831612
chr7:74833221	T T	TTG TTG	2	a0001c0001t0002g0003 a0002c0002t0001g0004 a0001c0001t0002g0003 a0002c0002t0001g0004	2	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	intron_variant	MODIFIER	c.100-280_100-279dup others(2): Show c.100-280_100-279dupCA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	2/15	chr7	74833221
chr7:74833221	T T	TTGTGTGT others(1): Show TTGTGTGTG	2	a0003c0005t0003g0001 a0004c0004t0001g0006 a0003c0005t0003g0001 a0004c0004t0001g0006	2	HG01109.hp1 HG01109.hp2 HG01109.hp1 HG01109.hp2	intron_variant	MODIFIER	c.100-286_100-279dup others(8): Show c.100-286_100-279dupCACACACA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	2/15	chr7	74833221
chr7:74833221	TTGTGTGT others(1): Show TTGTGTGTG	T T	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.100-286_100-279del others(8): Show c.100-286_100-279delCACACACA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	2/15	chr7	74833221
chr7:74837852	G G	A A	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.-5-1469C>T c.-5-1469C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74837852
chr7:74838029	T T	C C	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.-5-1646A>G c.-5-1646A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74838029
chr7:74838088	A A	G G	2	a0001c0001t0002g0003 a0002c0002t0001g0004 a0001c0001t0002g0003 a0002c0002t0001g0004	2	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-5-1705T>C c.-5-1705T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74838088
chr7:74839017	C C	T T	1	a0002c0002t0001g0005 a0002c0002t0001g0005	1	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.-5-2634G>A c.-5-2634G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74839017
chr7:74839119	C C	T T	7	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 others(4): Show a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006	7	HG01109.hp1 HG01109.hp2 HG02965.hp1 others(4): Show HG01109.hp1 HG01109.hp2 HG02965.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.-5-2736G>A c.-5-2736G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74839119
chr7:74839304	T T	C C	3	a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006 a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006	3	HG01109.hp1 HG01109.hp2 homoSapiens_chm13v2.hp1 HG01109.hp1 HG01109.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.-5-2921A>G c.-5-2921A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74839304
chr7:74839442	A A	G G	5	a0001c0001t0002g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(2): Show a0001c0001t0002g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006	5	HG01109.hp1 HG01109.hp2 HG02965.hp1 others(2): Show HG01109.hp1 HG01109.hp2 HG02965.hp1 HG02965.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.-5-3059T>C c.-5-3059T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74839442
chr7:74839775	A A	G G	5	a0001c0001t0002g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(2): Show a0001c0001t0002g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0003c0005t0003g0001 a0004c0004t0001g0006	5	HG01109.hp1 HG01109.hp2 HG02965.hp1 others(2): Show HG01109.hp1 HG01109.hp2 HG02965.hp1 HG02965.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.-5-3392T>C c.-5-3392T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74839775
chr7:74841530	T T	C C	2	a0001c0001t0002g0003 a0002c0002t0001g0004 a0001c0001t0002g0003 a0002c0002t0001g0004	2	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-5-5147A>G c.-5-5147A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74841530
chr7:74841608	A A	G G	2	a0001c0001t0002g0003 a0002c0002t0001g0004 a0001c0001t0002g0003 a0002c0002t0001g0004	2	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-5-5225T>C c.-5-5225T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74841608
chr7:74841760	A A	G G	2	a0001c0001t0002g0003 a0002c0002t0001g0004 a0001c0001t0002g0003 a0002c0002t0001g0004	2	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-5-5377T>C c.-5-5377T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74841760
chr7:74844360	T T	A A	2	a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0001g0008 a0001c0001t0002g0002	2	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	intron_variant	MODIFIER	c.-6+7007A>T c.-6+7007A>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74844360
chr7:74844360	T T	TTTTA TTTTA	2	a0001c0001t0002g0003 a0002c0002t0001g0004 a0001c0001t0002g0003 a0002c0002t0001g0004	2	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-6+7003_-6+7006dup others(4): Show c.-6+7003_-6+7006dupTAAA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74844360
chr7:74846976	C C	T T	2	a0001c0001t0002g0003 a0002c0002t0001g0004 a0001c0001t0002g0003 a0002c0002t0001g0004	2	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-6+4391G>A c.-6+4391G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74846976
chr7:74847387	G G	T T	2	a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0003 a0003c0005t0003g0001	2	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-6+3980C>A c.-6+3980C>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74847387
chr7:74847395	A A	G G	2	a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0003 a0003c0005t0003g0001	2	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-6+3972T>C c.-6+3972T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74847395
chr7:74847423	C C	T T	2	a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0003 a0003c0005t0003g0001	2	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-6+3944G>A c.-6+3944G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74847423
chr7:74847876	C C	CA CA	2	a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0003 a0003c0005t0003g0001	2	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-6+3490dupT c.-6+3490dupT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74847876
chr7:74847877	A A	C C	1	a0001c0001t0002g0002 a0001c0001t0002g0002	1	HG03654.hp2 HG03654.hp2	intron_variant	MODIFIER	c.-6+3490T>G c.-6+3490T>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74847877
chr7:74848605	G G	A A	2	a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0003 a0003c0005t0003g0001	2	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-6+2762C>T c.-6+2762C>T	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74848605
chr7:74848833	TA TA	T T	2	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0002 a0001c0001t0002g0003	2	HG02965.hp2 HG03654.hp2 HG02965.hp2 HG03654.hp2	intron_variant	MODIFIER	c.-6+2533delT c.-6+2533delT	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74848833
chr7:74848977	C C	T T	1	a0001c0001t0002g0002 a0001c0001t0002g0002	1	HG03654.hp2 HG03654.hp2	intron_variant	MODIFIER	c.-6+2390G>A c.-6+2390G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74848977
chr7:74849852	C C	T T	1	a0001c0001t0002g0002 a0001c0001t0002g0002	1	HG03654.hp2 HG03654.hp2	intron_variant	MODIFIER	c.-6+1515G>A c.-6+1515G>A	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74849852
chr7:74850443	T T	C C	2	a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0003 a0003c0005t0003g0001	2	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-6+924A>G c.-6+924A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74850443
chr7:74850507	A A	G G	3	a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001	3	HG01109.hp1 HG02965.hp2 HG03654.hp2 HG01109.hp1 HG02965.hp2 HG03654.hp2	intron_variant	MODIFIER	c.-6+860T>C c.-6+860T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74850507
chr7:74850609	A A	G G	1	a0001c0001t0002g0002 a0001c0001t0002g0002	1	HG03654.hp2 HG03654.hp2	intron_variant	MODIFIER	c.-6+758T>C c.-6+758T>C	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74850609
chr7:74851011	CCTTATCT others(26): Show CCTTATCTAACCAATCAAGCGCGTCTGCACGCAG	C C	1	a0001c0001t0002g0002 a0001c0001t0002g0002	1	HG03654.hp2 HG03654.hp2	intron_variant	MODIFIER	c.-6+323_-6+355delCT others(31): Show c.-6+323_-6+355delCTGCGTGCAGACGCGCTTGATTGGTTAGATAA G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74851011
chr7:74851090	T T	C C	3	a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001	3	HG01109.hp1 HG02965.hp2 HG03654.hp2 HG01109.hp1 HG02965.hp2 HG03654.hp2	intron_variant	MODIFIER	c.-6+277A>G c.-6+277A>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74851090
chr7:74851135	G G	C C	2	a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0003 a0003c0005t0003g0001	2	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-6+232C>G c.-6+232C>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74851135
chr7:74851305	G G	C C	2	a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0003 a0003c0005t0003g0001	2	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	intron_variant	MODIFIER	c.-6+62C>G c.-6+62C>G	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74851305
chr7:74851334	T T	TGGCGGCG others(2): Show TGGCGGCGTC	2	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0002 a0001c0001t0002g0003	2	HG02965.hp2 HG03654.hp2 HG02965.hp2 HG03654.hp2	intron_variant	MODIFIER	c.-6+24_-6+32dupGACG others(5): Show c.-6+24_-6+32dupGACGCCGCC	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74851334
chr7:74851349	C C	CGTCGGCG others(4): Show CGTCGGCGGGCG	1	a0003c0005t0003g0001 a0003c0005t0003g0001	1	HG01109.hp1 HG01109.hp1	intron_variant	MODIFIER	c.-6+17_-6+18insCGCC others(7): Show c.-6+17_-6+18insCGCCCGCCGAC	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	1/15	chr7	74851349

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JoGo Online Haplotype Explorer GTF2IRD2_chr7_74791151_74856605

JoGo Local Haplotype Explorer (on iGV) GTF2IRD2_chr7_74791151_74856605

Translation Multiple Alignment View

🧬 Gene Summary (with MANE)

AAmino acid(protein) Level Haplotype Info (Total: 5)

CCoding Level Haplotype Info (Total: 5)

TTranscript Level Haplotype Info (Total: 3)

GGenebody Level Haplotype Info (Total: 8)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 5)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 6)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 8)

Haplotype Details by Sample (Haploid Level) (Total: 8)

AAmino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 5)

CCoding Level Variants (On coding region but no effect to protein coding variants: Synonymous Mutations) (Total: 3)

TTranscript Level Haplotype Variants (Exon) (Total: 3)

GGenebody Level Haplotype Variants (Intron) (Total: 132)

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Annotation (Repeats)

Annotation (SNP Array)