Joint Open Genome and Omics Platform (JoGo)

Haplotype Detail Info [ACD_chr16_67652512_67665260>a0001]

geneid	65057
ensemblid	ENSG00000102977.18
hgncid	25070
symbol	ACD
name	ACD shelterin complex subunit and telomerase recruitment factor
refseq_nuc	NM_001082486.2
refseq_prot	NP_001075955.2
ensembl_nuc	ENST00000620761.6
ensembl_prot	ENSP00000478084.1
mane_status	MANE Select
chr	chr16
start	67657512
end	67660260
strand	-
ver	v1.2
region	chr16:67657512-67660260
region5000	chr16:67652512-67665260
regionname0	ACD_chr16_67657512_67660260
regionname5000	ACD_chr16_67652512_67665260

chr:pos	ref	alt	af	annotation	impact	samples	AHAPIDS	ACHAPIDS	ACTHAPIDS	ACTGHAPIDS	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status
chr16:67657765	A A	G G	0.5933	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(156): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18950.hp1 NA18959.hp1 NA18977.hp2 NA18995.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0003c0004 a0004c0005 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0003c0004t0001 a0004c0005t0001 a0005c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0002g0004 a0001c0003t0001g0007 a0001c0003t0001g0020 a0001c0007t0001g0017 a0001c0008t0001g0019 a0001c0009t0001g0018 a0001c0010t0001g0024 a0003c0004t0001g0008 a0003c0004t0001g0023 a0004c0005t0001g0014 a0005c0012t0001g0022	159	268	0	ACD	ENSG00000102977.18	transcript	ENST00000620761.6	protein_coding	11/12	c.1295T>C	p.Val432Ala	1335/1511	1295/1377	432/458

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	ahapid	alen	total	AFR	AMR	EAS	EUR	SAS	aseq	chr	start	end
ACD	0/0	a0001	458	154	79	31	23	4	17	subcellular location copy fasta	chr16	67652512	67665260

pos	S. Strand	E# Exon Number	max	median	min	diff	type	haplotypeid	max_hap_list	min_hap_list	symbol	chr	start	end
67660122	-	1	-0.9307	-0.9237	-0.8699	0.0608	acceptor	a0001	HG03041.hp2 HG03225.hp1 HG03041.hp2 HG03225.hp1	HG02071.hp2 HG02071.hp2	ACD	chr16	67652512	67665260
67659903	-	2	-0.9898	-0.9887	-0.9740	0.0158	acceptor	a0001	NA19240.hp2 NA19240.hp2	HG02071.hp2 HG02071.hp2	ACD	chr16	67652512	67665260
67660045	-	2	0.9670	0.9563	0.0002	0.9668	donor	a0001	NA18522.hp2 NA18522.hp2	HG02071.hp2 HG02071.hp2	ACD	chr16	67652512	67665260
67659702	-	3	-0.9957	-0.9955	-0.9946	0.0011	acceptor	a0001	NA19240.hp2 NA19240.hp2	HG02071.hp2 HG02071.hp2	ACD	chr16	67652512	67665260
67659795	-	3	0.9950	0.9934	0.9930	0.0020	donor	a0001	NA19240.hp2 NA19240.hp2	HG02071.hp2 HG02071.hp2	ACD	chr16	67652512	67665260
67659537	-	4	-0.9975	-0.9974	-0.9918	0.0056	acceptor	a0001	HG02486.hp2 HG03225.hp2 NA18977.hp2 HG02486.hp2 HG03225.hp2 NA18977.hp2	HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2	ACD	chr16	67652512	67665260
67659613	-	4	0.9963	0.9962	0.9947	0.0017	donor	a0001	NA18522.hp2 NA18522.hp2	HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2	ACD	chr16	67652512	67665260
67659375	-	5	-0.9442	-0.9394	-0.9354	0.0088	acceptor	a0001	NA19240.hp2 NA19240.hp2	HG02280.hp1 HG03130.hp2 HG02280.hp1 HG03130.hp2	ACD	chr16	67652512	67665260
67659419	-	5	0.9624	0.9594	0.9462	0.0162	donor	a0001	HG02965.hp1 HG02965.hp1	NA20129.hp1 NA20129.hp1	ACD	chr16	67652512	67665260
67659229	-	6	-0.9318	-0.9169	-0.9001	0.0318	acceptor	a0001	HG03041.hp2 HG03225.hp1 HG03041.hp2 HG03225.hp1	HG02280.hp1 HG03130.hp2 HG02280.hp1 HG03130.hp2	ACD	chr16	67652512	67665260
67659263	-	6	0.9083	0.8973	0.8698	0.0385	donor	a0001	NA19240.hp2 NA19240.hp2	HG02280.hp1 HG03130.hp2 HG02280.hp1 HG03130.hp2	ACD	chr16	67652512	67665260
67658928	-	7	-0.9687	-0.9612	-0.9581	0.0107	acceptor	a0001	HG03041.hp2 HG03225.hp1 HG03041.hp2 HG03225.hp1	HG02071.hp2 HG02071.hp2	ACD	chr16	67652512	67665260
67659079	-	7	0.9803	0.9740	0.9695	0.0108	donor	a0001	HG03041.hp2 HG03225.hp1 HG03041.hp2 HG03225.hp1	NA20129.hp1 NA20129.hp1	ACD	chr16	67652512	67665260
67658720	-	8	-0.8504	-0.7781	-0.7609	0.0894	acceptor	a0001	HG03041.hp2 HG03225.hp1 HG03041.hp2 HG03225.hp1	HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2	ACD	chr16	67652512	67665260
67658816	-	8	0.8662	0.8057	0.7965	0.0697	donor	a0001	NA19240.hp2 NA19240.hp2	HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2	ACD	chr16	67652512	67665260
67658555	-	9	-0.9291	-0.8800	-0.8375	0.0916	acceptor	a0001	NA19240.hp2 NA19240.hp2	NA20129.hp1 NA20129.hp1	ACD	chr16	67652512	67665260
67658641	-	9	0.9423	0.9069	0.8105	0.1318	donor	a0001	HG03041.hp2 HG03225.hp1 HG03041.hp2 HG03225.hp1	NA20129.hp1 NA20129.hp1	ACD	chr16	67652512	67665260
67657986	-	10	-0.8242	-0.7337	-0.7045	0.1197	acceptor	a0001	HG03225.hp1 HG03225.hp1	HG02258.hp2 HG02258.hp2	ACD	chr16	67652512	67665260
67658362	-	10	0.7171	0.6690	0.6418	0.0753	donor	a0001	HG03041.hp2 HG03225.hp1 HG03041.hp2 HG03225.hp1	HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2	ACD	chr16	67652512	67665260
67657762	-	11	-0.9352	-0.7408	-0.6995	0.2357	acceptor	a0001	HG03041.hp2 HG03041.hp2	HG00738.hp2 HG00741.hp1 HG02027.hp2 HG02735.hp1 HG04199.hp2 others(2): Show HG00738.hp2 HG00741.hp1 HG02027.hp2 HG02735.hp1 HG04199.hp2 NA18995.hp1 NA20300.hp2	ACD	chr16	67652512	67665260
67657853	-	11	0.9630	0.8240	0.7860	0.1770	donor	a0001	NA19240.hp2 NA19240.hp2	HG02895.hp1 HG02895.hp1	ACD	chr16	67652512	67665260
67657684	-	12	0.6469	0.5678	0.4312	0.2157	donor	a0001	HG03041.hp2 HG03041.hp2	HG02258.hp2 HG02258.hp2	ACD	chr16	67652512	67665260

pos	annotation hgvs_c hgvs_p	clinvarid	clnsig	geneinfo	mc	clndisdb	strand strand	ahapid ahapid_count	chapid chapid count	thapid thapid_count	ghapid ghapid_count	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	impact	chr	ref	alt	external
67653021:splice 67653021:variant goto	c.4585C>T c.4585C>T	1165746	Conflicting_classifications_of_pathogenicity	CARMIL2:146206 CARMIL2:146206	SO:0001583 missense_variant SO:0001583 missense_variant	.\|MeSH:D030342 MedGen:C0950123\|MedGen:C3661900 .\|MeSH:D030342 MedGen:C0950123\|MedGen:C3661900	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG01175.hp2 HG01175.hp2	MODIFIER	chr16	G G	A A	TogoVar
67656548:splice 67656548:variant goto	c.1058A>G c.1058A>G	781208	Benign	CARMIL2:146206 CARMIL2:146206	SO:0001819 synonymous_variant SO:0001819 synonymous_variant	MedGen:C3661900 MedGen:C3661900	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	NA18522.hp2 NA18522.hp2	MODIFIER	chr16	T T	C C	TogoVar
67657291:splice 67657291:variant goto	c.315G>A c.315G>A	773873	Benign	CARMIL2:146206 CARMIL2:146206	SO:0001819 synonymous_variant SO:0001819 synonymous_variant	MedGen:C3661900\|. MedGen:C3661900\|.	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00609.hp2 HG02080.hp2 NA18977.hp2 NA19010.hp2 NA19081.hp2 HG00609.hp2 HG02080.hp2 NA18977.hp2 NA19010.hp2 NA19081.hp2	MODIFIER	chr16	C C	T T	TogoVar
67657355:splice 67657355:variant goto	c.251G>A c.251G>A	1317831	Benign/Likely_benign	ACD:65057 CARMIL2:146206 ACD:65057 CARMIL2:146206	SO:0001627 intron_variant SO:0001627 intron_variant	MONDO:MONDO:0029134 MedGen:C4748304 OMIM:618131 Orphanet:542301\|MedGen:C3661900 MONDO:MONDO:0029134 MedGen:C4748304 OMIM:618131 Orphanet:542301\|MedGen:C3661900	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	MODIFIER	chr16	C C	T T	TogoVar
67660363:splice 67660363:variant goto	c.-143G>C c.-143G>C	2624825	Likely_benign	ACD:65057 LOC130059224:130059224 ACD:65057 LOC130059224:130059224	SO:0001583 missense_variant SO:0001583 missense_variant	MeSH:D030342 MedGen:C0950123 MeSH:D030342 MedGen:C0950123	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	NA18977.hp2 NA18977.hp2	MODIFIER	chr16	C C	G G	TogoVar
67660364:splice 67660364:variant goto	c.-144C>T c.-144C>T	1736307	Uncertain_significance	ACD:65057 LOC130059224:130059224 ACD:65057 LOC130059224:130059224	SO:0001583 missense_variant SO:0001583 missense_variant	MeSH:D030342 MedGen:C0950123\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322 MeSH:D030342 MedGen:C0950123\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	NA18977.hp2 NA18977.hp2	MODIFIER	chr16	G G	A A	TogoVar
67660703:splice 67660703:variant goto	c.-483T>C c.-483T>C	1170359	Benign/Likely_benign	ACD:65057 ACD:65057	SO:0002153 genic_upstream_transcript_variant SO:0002153 genic_upstream_transcript_variant	MedGen:C3661900\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322 MedGen:C3661900\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	MODIFIER	chr16	A A	G G	TogoVar
67660954:splice 67660954:variant goto	c.-739_-735dupGCCGC c.-739_-735dupGCCGC	1267204	Benign	ACD:65057 LOC130059225:130059225 ACD:65057 LOC130059225:130059225	. .	MedGen:C3661900 MedGen:C3661900	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp1	MODIFIER	chr16	G G	GGCGGC GGCGGC	TogoVar
67662462:splice 67662462:variant goto	c.-2242C>T c.-2242C>T	3056133	Benign	PARD6A:50855 PARD6A:50855	SO:0001583 missense_variant SO:0001583 missense_variant	. .	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	MODIFIER	chr16	G G	A A	TogoVar
67657765:splice 67657765:variant goto	c.1295T>C p.Val432Ala c.1295T>C p.Val432Ala	1167321	Benign	ACD:65057 ACD:65057	SO:0001583 missense_variant SO:0001583 missense_variant	MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|MedGen:C3661900\|MedGen:CN169374 MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|MedGen:C3661900\|MedGen:CN169374	-	4	9	10	21	a0001 a0003 a0004 a0005 a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0003c0004 a0004c0005 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0003c0004t0001 a0004c0005t0001 a0005c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0002g0004 a0001c0003t0001g0007 a0001c0003t0001g0020 a0001c0007t0001g0017 a0001c0008t0001g0019 a0001c0009t0001g0018 a0001c0010t0001g0024 a0003c0004t0001g0008 a0003c0004t0001g0023 a0004c0005t0001g0014 a0005c0012t0001g0022	HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00738.hp1 HG00738.hp2 others(154): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18950.hp1 NA18959.hp1 NA18977.hp2 NA18995.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	MODERATE	chr16	A A	G G	TogoVar
67660685:splice 67660685:variant goto	c.-465G>A c.-465G>A	1278884	Benign	ACD:65057 ACD:65057	SO:0002153 genic_upstream_transcript_variant SO:0002153 genic_upstream_transcript_variant	MedGen:C3661900 MedGen:C3661900	-	1	2	2	5	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0010t0001g0024 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0010t0001g0024	HG01109.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp2 others(24): Show HG01109.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1	MODIFIER	chr16	C C	T T	TogoVar
67654166:splice 67654166:variant goto	c.3440C>T c.3440C>T	1166460	Benign	CARMIL2:146206 CARMIL2:146206	SO:0001819 synonymous_variant SO:0001819 synonymous_variant	MedGen:C3661900 MedGen:C3661900	-	1	1	1	2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0002 a0001c0001t0001g0011	HG02055.hp2 HG02145.hp1 HG02602.hp2 HG02630.hp1 HG03486.hp1 others(2): Show HG02055.hp2 HG02145.hp1 HG02602.hp2 HG02630.hp1 HG03486.hp1 HG03654.hp2 NA19030.hp1	MODIFIER	chr16	G G	A A	TogoVar
67657337:splice 67657337:variant goto	c.269C>T c.269C>T	1228521	Benign	ACD:65057 CARMIL2:146206 ACD:65057 CARMIL2:146206	SO:0001627 intron_variant SO:0001627 intron_variant	MedGen:C3661900 MedGen:C3661900	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	HG03017.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG03017.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2	MODIFIER	chr16	G G	A A	TogoVar
67659534:splice 67659534:variant goto	c.413+3A>G c.413+3A>G	1167322	Benign	ACD:65057 ACD:65057	SO:0001627 intron_variant SO:0001627 intron_variant	MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|MedGen:C3661900\|MedGen:CN169374 MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|MedGen:C3661900\|MedGen:CN169374	-	2	4	4	8	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0010 a0003c0004 a0001c0001 a0001c0003 a0001c0010 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0003c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0025 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0003t0001g0007 a0001c0010t0001g0024 a0003c0004t0001g0023	HG00738.hp1 HG01109.hp2 HG01433.hp1 HG02145.hp1 HG02145.hp2 others(42): Show HG00738.hp1 HG01109.hp2 HG01433.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	LOW	chr16	T T	C C	TogoVar
67660837:splice 67660837:variant goto	c.-617A>G c.-617A>G	1804577	Likely_benign	ACD:65057 LOC130059225:130059225 ACD:65057 LOC130059225:130059225	. .	MedGen:C3661900 MedGen:C3661900	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	HG03098.hp2 HG03098.hp2	MODIFIER	chr16	T T	C C	TogoVar
67657742:splice 67657742:variant goto	c.1298+20C>A c.1298+20C>A	1166998	Benign	ACD:65057 ACD:65057	SO:0001627 intron_variant SO:0001627 intron_variant	MedGen:C3661900\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|MedGen:CN169374 MedGen:C3661900\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|MedGen:CN169374	-	2	3	4	5	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0004c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0004c0005t0001	a0001c0001t0001g0005 a0001c0001t0002g0004 a0001c0003t0001g0007 a0001c0003t0001g0020 a0004c0005t0001g0014 a0001c0001t0001g0005 a0001c0001t0002g0004 a0001c0003t0001g0007 a0001c0003t0001g0020 a0004c0005t0001g0014	HG00438.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01167.hp1 others(36): Show HG00438.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp2 HG01934.hp2 HG01975.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG04199.hp2 NA18940.hp1 NA18995.hp1 NA19010.hp1 NA19240.hp1 NA20300.hp2	MODIFIER	chr16	G G	T T	TogoVar
67653086:splice 67653086:variant goto	c.4520C>T c.4520C>T	1630013	Likely_benign	CARMIL2:146206 CARMIL2:146206	SO:0001819 synonymous_variant SO:0001819 synonymous_variant	MedGen:C3661900 MedGen:C3661900	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	HG02965.hp1 HG03540.hp1 HG02965.hp1 HG03540.hp1	MODIFIER	chr16	G G	A A	TogoVar
67659180:splice 67659180:variant goto	c.493+49T>A c.493+49T>A	2576228	Benign	ACD:65057 ACD:65057	SO:0001627 intron_variant SO:0001627 intron_variant	MedGen:CN169374 MedGen:CN169374	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	HG02280.hp1 HG03130.hp2 HG02280.hp1 HG03130.hp2	MODIFIER	chr16	A A	T T	TogoVar
67654661:splice 67654661:variant goto	c.2945T>A c.2945T>A	1599730	Conflicting_classifications_of_pathogenicity	CARMIL2:146206 CARMIL2:146206	SO:0001583 missense_variant SO:0001583 missense_variant	MedGen:C3661900\|. MedGen:C3661900\|.	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	HG02145.hp1 HG02145.hp1	MODIFIER	chr16	A A	T T	TogoVar
67658470:splice 67658470:variant goto	c.829+85G>A c.829+85G>A	1804531	Likely_benign	ACD:65057 ACD:65057	SO:0001627 intron_variant SO:0001627 intron_variant	MedGen:C3661900 MedGen:C3661900	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	HG02145.hp1 HG02630.hp1 HG02145.hp1 HG02630.hp1	MODIFIER	chr16	C C	T T	TogoVar
67657863:splice 67657863:variant goto	c.1207-10C>T c.1207-10C>T	475765	Benign	ACD:65057 ACD:65057	SO:0001627 intron_variant SO:0001627 intron_variant	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322 MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322	-	1	1	1	2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0012 a0001c0001t0001g0025	HG03041.hp2 HG03225.hp1 NA19240.hp2 HG03041.hp2 HG03225.hp1 NA19240.hp2	MODIFIER	chr16	G G	A A	TogoVar
67660317:splice 67660317:variant goto	c.-97C>T c.-97C>T	475767	Benign/Likely_benign	ACD:65057 ACD:65057	SO:0001819 synonymous_variant SO:0001819 synonymous_variant	MeSH:D030342 MedGen:C0950123\|MedGen:CN169374\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|MedGen:C3661900 MeSH:D030342 MedGen:C0950123\|MedGen:CN169374\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|MedGen:C3661900	-	1	1	1	2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0012 a0001c0001t0001g0025	HG03041.hp2 HG03225.hp1 NA19240.hp2 HG03041.hp2 HG03225.hp1 NA19240.hp2	MODIFIER	chr16	G G	A A	TogoVar
67660909:splice 67660909:variant goto	c.-689T>C c.-689T>C	1707123	Likely_benign	ACD:65057 LOC130059225:130059225 ACD:65057 LOC130059225:130059225	. .	MedGen:C3661900 MedGen:C3661900	-	1	1	1	2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0012 a0001c0001t0001g0025	HG03041.hp2 HG03225.hp1 NA19240.hp2 HG03041.hp2 HG03225.hp1 NA19240.hp2	MODIFIER	chr16	A A	G G	TogoVar
67653414:splice 67653414:variant goto	c.4192G>A c.4192G>A	2688511	Benign	CARMIL2:146206 CARMIL2:146206	SO:0001627 intron_variant SO:0001627 intron_variant	MedGen:CN169374 MedGen:CN169374	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	HG01099.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 others(4): Show HG01099.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01975.hp2 HG02027.hp2 NA18995.hp1 NA20300.hp2	MODIFIER	chr16	C C	T T	TogoVar
67657574:splice 67657574:variant goto	c.32T>A c.32T>A	1235552	Benign	ACD:65057 ACD:65057	SO:0001624 3_prime_UTR_variant SO:0001624 3_prime_UTR_variant	MedGen:C3661900\|MedGen:CN169374 MedGen:C3661900\|MedGen:CN169374	-	1	1	1	1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 others(15): Show HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01934.hp2 HG01975.hp2 HG02027.hp2 HG02071.hp1 HG02735.hp1 HG03491.hp1 HG04199.hp2 NA18995.hp1 NA20300.hp2	MODIFIER	chr16	A A	T T	TogoVar
67658583:splice 67658583:variant goto	c.801C>T p.Ala267Ala c.801C>T p.Ala267Ala	542420	Benign/Likely_benign	ACD:65057 ACD:65057	SO:0001819 synonymous_variant SO:0001819 synonymous_variant	MedGen:CN169374\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|MedGen:C3661900\|MeSH:D030342 MedGen:C0950123\|. MedGen:CN169374\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|MedGen:C3661900\|MeSH:D030342 MedGen:C0950123\|.	-	2	2	2	3	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0001 a0004c0005t0001 a0001c0003t0001 a0004c0005t0001	a0001c0003t0001g0007 a0001c0003t0001g0020 a0004c0005t0001g0014 a0001c0003t0001g0007 a0001c0003t0001g0020 a0004c0005t0001g0014	HG02630.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG02630.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1	LOW	chr16	G G	A A	TogoVar
67657612:splice 67657612:variant goto	c.1371G>T p.Pro457Pro c.1371G>T p.Pro457Pro	475766	Benign/Likely_benign	ACD:65057 ACD:65057	SO:0001819 synonymous_variant SO:0001819 synonymous_variant	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356 MeSH:D009386 MedGen:C0027672 Orphanet:140162\|MONDO:MONDO:0014690 MedGen:C4225284 others(2): Show MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356 MeSH:D009386 MedGen:C0027672 Orphanet:140162\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322	-	1	1	1	1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0017 a0001c0007t0001g0017	HG02258.hp2 HG02258.hp2	LOW	chr16	C C	A A	TogoVar
67657647:splice 67657647:variant goto	c.1336C>T p.Leu446Leu c.1336C>T p.Leu446Leu	434065	Benign/Likely_benign	ACD:65057 ACD:65057	SO:0001819 synonymous_variant SO:0001819 synonymous_variant	MeSH:D030342 MedGen:C0950123\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|.\|MedGen:CN169374 MeSH:D030342 MedGen:C0950123\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322\|.\|MedGen:CN169374	-	1	1	1	1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	HG03209.hp1 HG03209.hp1	LOW	chr16	G G	A A	TogoVar
67658196:splice 67658196:variant goto	c.996C>T p.His332His c.996C>T p.His332His	1761460	Likely_benign	ACD:65057 ACD:65057	SO:0001819 synonymous_variant SO:0001819 synonymous_variant	MedGen:CN169374\|MeSH:D030342 MedGen:C0950123\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322 MedGen:CN169374\|MeSH:D030342 MedGen:C0950123\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322	-	1	1	1	1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0018 a0001c0009t0001g0018	HG02015.hp2 HG02015.hp2	LOW	chr16	G G	A A	TogoVar
67658565:splice 67658565:variant goto	c.819C>T p.Pro273Pro c.819C>T p.Pro273Pro	542418	Benign/Likely_benign	ACD:65057 ACD:65057	SO:0001819 synonymous_variant SO:0001819 synonymous_variant	MedGen:CN169374\|MeSH:D030342 MedGen:C0950123\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322 MedGen:CN169374\|MeSH:D030342 MedGen:C0950123\|MONDO:MONDO:0014690 MedGen:C4225284 OMIM:616553 Orphanet:3322	-	1	1	1	1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0024 a0001c0010t0001g0024	NA20129.hp1 NA20129.hp1	LOW	chr16	G G	A A	TogoVar

CHR:POS	annotation hgvs_c hgvs_p	disease trait -log10p odds or beta	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	study	initial sample size/ replication sample size	report genes	mapped gene	strongest snp risk allele	strand strand	impact	chr	ref	alt
chr16:67657765	c.1295T>C p.Val432Ala c.1295T>C p.Val432Ala	Hemoglobin levels 0.015 Hemoglobin levels 0.015	a0001 a0003 a0004 a0005 a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0003c0004 a0004c0005 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0003c0004t0001 a0004c0005t0001 a0005c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0002g0004 a0001c0003t0001g0007 a0001c0003t0001g0020 a0001c0007t0001g0017 a0001c0008t0001g0019 a0001c0009t0001g0018 a0001c0010t0001g0024 a0003c0004t0001g0008 a0003c0004t0001g0023 a0004c0005t0001g0014 a0005c0012t0001g0022	HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00738.hp1 HG00738.hp2 others(154): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18950.hp1 NA18959.hp1 NA18977.hp2 NA18995.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	Predicted loss and gain of function mutations in A others(39): Show Predicted loss and gain of function mutations in A CO1 are associated with erythropoiesis.	684,122 European ancestry individuals/ 684,122 European ancestry individuals/	ACD	ACD	rs6979-G	-	MODERATE	chr16	A A	G G

pos	genename hgvs_c hgvs_p annotation	tissue expression gene -log10(pval) slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database) The -log10(nominal pvalue) in GTEx database Slope in GTEx database (positive value:alt allele has higher gene expression)	ahapid chapid thapid ghapid ahapid_count chapid_count thapid_count ghapid_count	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	af allele frequency in GTEx database	ms The number of samples with minor allele in GTEx database	ma The number of minor allele count in GTEx database	ver GTEx version	vid Variant ID in GTEx database	strand strand	impact	chr	ref	alt	external
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	E2F4 Adipose_Subcutaneous 3.998 0.169	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	48	49	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	E2F4 Adipose_Subcutaneous 4.019 0.168	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	E2F4 Adipose_Subcutaneous 4.019 0.168	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	KCTD19 Adipose_Subcutaneous 3.591 0.413	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	48	49	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	KCTD19 Adipose_Subcutaneous 3.590 0.408	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	KCTD19 Adipose_Subcutaneous 3.590 0.408	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	LRRC36 Adipose_Subcutaneous 10.776 0.751	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	48	49	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	LRRC36 Adipose_Subcutaneous 10.415 0.728	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	LRRC36 Adipose_Subcutaneous 10.415 0.728	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	C16orf86 Adipose_Subcutaneous 8.136 -0.404	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	48	49	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	C16orf86 Adipose_Subcutaneous 8.242 -0.401	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	C16orf86 Adipose_Subcutaneous 8.242 -0.401	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Adipose_Subcutaneous 14.249 -0.595	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	48	49	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Adipose_Subcutaneous 13.872 -0.580	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Adipose_Subcutaneous 13.872 -0.580	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	CTRL Adipose_Subcutaneous 4.660 0.373	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	48	49	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	CTRL Adipose_Subcutaneous 4.618 0.366	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	CTRL Adipose_Subcutaneous 4.618 0.366	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	LCAT Adipose_Subcutaneous 4.253 0.225	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	48	49	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	LCAT Adipose_Subcutaneous 4.474 0.228	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	LCAT Adipose_Subcutaneous 4.474 0.228	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	NFATC3 Adipose_Subcutaneous 3.969 -0.262	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	48	49	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	NFATC3 Adipose_Subcutaneous 4.152 -0.265	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	NFATC3 Adipose_Subcutaneous 4.152 -0.265	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	SLC7A6OS Adipose_Subcutaneous 3.781 0.372	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	48	49	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	SLC7A6OS Adipose_Subcutaneous 3.769 0.367	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	SLC7A6OS Adipose_Subcutaneous 3.769 0.367	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	49	50	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67660954:splice 67660954:variant goto	ACD upstream_gene_variant c.-739_-735dupGC others(8): Show ACD upstream_gene_variant c.-739_-735dupGC CGC	KCTD19 Adipose_Visceral_Omentum 5.613 0.689	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp1	0.011	12	12	10	chr16_67660954_G_GGCGGC_b38	-	MODIFIER	chr16	G G	GGCGGC GGCGGC	TogoVar
67664127:splice 67664127:variant goto	ACD upstream_gene_variant c.-3907G>C ACD upstream_gene_variant c.-3907G>C	KCTD19 Adipose_Visceral_Omentum 4.668 0.519	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2	0.015	17	17	10	chr16_67664127_C_G_b38	-	MODIFIER	chr16	C C	G G	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	LRRC36 Adipose_Visceral_Omentum 6.996 0.449	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	39	40	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	LRRC36 Adipose_Visceral_Omentum 6.349 0.418	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	40	41	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67660954:splice 67660954:variant goto	ACD upstream_gene_variant c.-739_-735dupGC others(8): Show ACD upstream_gene_variant c.-739_-735dupGC CGC	LRRC36 Adipose_Visceral_Omentum 11.747 1.090	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp1	0.011	12	12	10	chr16_67660954_G_GGCGGC_b38	-	MODIFIER	chr16	G G	GGCGGC GGCGGC	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	LRRC36 Adipose_Visceral_Omentum 6.349 0.418	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	40	41	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67664127:splice 67664127:variant goto	ACD upstream_gene_variant c.-3907G>C ACD upstream_gene_variant c.-3907G>C	LRRC36 Adipose_Visceral_Omentum 14.048 0.995	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2	0.015	17	17	10	chr16_67664127_C_G_b38	-	MODIFIER	chr16	C C	G G	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	C16orf86 Adipose_Visceral_Omentum 4.402 -0.281	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	39	40	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	C16orf86 Adipose_Visceral_Omentum 4.274 -0.271	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	40	41	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	C16orf86 Adipose_Visceral_Omentum 4.274 -0.271	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	40	41	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Adipose_Visceral_Omentum 11.135 -0.476	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.034	39	40	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Adipose_Visceral_Omentum 10.632 -0.456	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	40	41	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Adipose_Visceral_Omentum 10.632 -0.456	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	40	41	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67660954:splice 67660954:variant goto	ACD upstream_gene_variant c.-739_-735dupGC others(8): Show ACD upstream_gene_variant c.-739_-735dupGC CGC	ATP6V0D1 Adrenal_Gland 5.199 -0.753	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp1	0.013	7	7	10	chr16_67660954_G_GGCGGC_b38	-	MODIFIER	chr16	G G	GGCGGC GGCGGC	TogoVar
67664127:splice 67664127:variant goto	ACD upstream_gene_variant c.-3907G>C ACD upstream_gene_variant c.-3907G>C	ATP6V0D1 Adrenal_Gland 4.939 -0.695	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2	0.014	8	8	10	chr16_67664127_C_G_b38	-	MODIFIER	chr16	C C	G G	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Adrenal_Gland 4.428 -0.427	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.029	16	17	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	CTCF Artery_Aorta 3.877 0.256	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	32	33	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Artery_Aorta 8.177 -0.384	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	32	33	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Artery_Aorta 7.871 -0.369	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.036	33	34	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Artery_Aorta 7.871 -0.369	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.036	33	34	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	CTCF Artery_Tibial 11.671 0.344	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.036	49	50	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	CTCF Artery_Tibial 11.393 0.335	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	50	51	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	CTCF Artery_Tibial 11.393 0.335	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	50	51	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	C16orf86 Artery_Tibial 5.032 -0.299	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.036	49	50	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	C16orf86 Artery_Tibial 4.820 -0.288	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	50	51	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	C16orf86 Artery_Tibial 4.820 -0.288	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	50	51	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Artery_Tibial 10.545 -0.424	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.036	49	50	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Artery_Tibial 10.334 -0.414	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	50	51	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Artery_Tibial 10.334 -0.414	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	50	51	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67664127:splice 67664127:variant goto	ACD upstream_gene_variant c.-3907G>C ACD upstream_gene_variant c.-3907G>C	RANBP10 Artery_Tibial 3.965 -0.385	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2	0.016	22	22	10	chr16_67664127_C_G_b38	-	MODIFIER	chr16	C C	G G	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	TSNAXIP1 Artery_Tibial 3.538 0.284	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.036	49	50	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	TSNAXIP1 Artery_Tibial 3.461 0.277	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	50	51	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	TSNAXIP1 Artery_Tibial 3.461 0.277	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	50	51	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	LCAT Artery_Tibial 4.186 0.210	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.036	49	50	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	LCAT Artery_Tibial 4.529 0.216	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	50	51	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	LCAT Artery_Tibial 4.529 0.216	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	50	51	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67664127:splice 67664127:variant goto	ACD upstream_gene_variant c.-3907G>C ACD upstream_gene_variant c.-3907G>C	PLA2G15 Artery_Tibial 3.323 -0.360	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2	0.016	22	22	10	chr16_67664127_C_G_b38	-	MODIFIER	chr16	C C	G G	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Brain_Amygdala 4.327 -0.542	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.039	14	14	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Brain_Amygdala 4.327 -0.542	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.039	14	14	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Brain_Amygdala 4.327 -0.542	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.039	14	14	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Brain_Anterior_cingulate_cortex_BA24 4.817 -0.510	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.045	21	21	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Brain_Anterior_cingulate_cortex_BA24 4.817 -0.510	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.045	21	21	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Brain_Anterior_cingulate_cortex_BA24 4.817 -0.510	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.045	21	21	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Brain_Caudate_basal_ganglia 5.275 -0.416	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.040	24	24	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Brain_Caudate_basal_ganglia 5.275 -0.416	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.040	24	24	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Brain_Caudate_basal_ganglia 5.275 -0.416	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.040	24	24	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Brain_Cerebellar_Hemisphere 8.809 -0.642	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.038	21	21	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Brain_Cerebellar_Hemisphere 8.809 -0.642	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.038	21	21	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Brain_Cerebellar_Hemisphere 8.809 -0.642	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.038	21	21	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67660954:splice 67660954:variant goto	ACD upstream_gene_variant c.-739_-735dupGC others(8): Show ACD upstream_gene_variant c.-739_-735dupGC CGC	PSMB10 Brain_Cerebellar_Hemisphere 3.915 -0.672	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp1	0.008	4	4	10	chr16_67660954_G_GGCGGC_b38	-	MODIFIER	chr16	G G	GGCGGC GGCGGC	TogoVar
67664127:splice 67664127:variant goto	ACD upstream_gene_variant c.-3907G>C ACD upstream_gene_variant c.-3907G>C	PSMB10 Brain_Cerebellar_Hemisphere 3.648 -0.513	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2	0.011	6	6	10	chr16_67664127_C_G_b38	-	MODIFIER	chr16	C C	G G	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Brain_Cerebellum 18.234 -0.857	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.044	23	23	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Brain_Cerebellum 18.234 -0.857	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.044	23	23	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Brain_Cerebellum 18.234 -0.857	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.044	23	23	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67664127:splice 67664127:variant goto	ACD upstream_gene_variant c.-3907G>C ACD upstream_gene_variant c.-3907G>C	RANBP10 Brain_Cerebellum 4.669 -0.891	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 others(4): Show HG02622.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2	0.009	5	5	10	chr16_67664127_C_G_b38	-	MODIFIER	chr16	C C	G G	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	GFOD2 Brain_Cortex 4.414 -0.235	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.043	23	23	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	GFOD2 Brain_Cortex 4.414 -0.235	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.043	23	23	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	GFOD2 Brain_Cortex 4.414 -0.235	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.043	23	23	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Brain_Cortex 14.748 -0.765	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.043	23	23	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Brain_Cortex 14.748 -0.765	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.043	23	23	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Brain_Cortex 14.748 -0.765	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.043	23	23	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Brain_Frontal_Cortex_BA9 4.700 -0.485	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	20	20	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Brain_Frontal_Cortex_BA9 4.700 -0.485	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	20	20	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Brain_Frontal_Cortex_BA9 4.700 -0.485	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.037	20	20	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Brain_Hippocampus 4.104 -0.446	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.043	22	22	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Brain_Hippocampus 4.104 -0.446	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.043	22	22	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Brain_Hippocampus 4.104 -0.446	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.043	22	22	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	RANBP10 Brain_Hypothalamus 5.268 -0.462	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	18	18	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	RANBP10 Brain_Hypothalamus 5.268 -0.462	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	18	18	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	RANBP10 Brain_Hypothalamus 5.268 -0.462	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	18	18	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
67657355:splice 67657355:variant goto	ACD downstream_gene_variant c.251G>A ACD downstream_gene_variant c.251G>A	DUS2 Brain_Hypothalamus 3.871 0.598	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	18	18	10	chr16_67657355_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
67660703:splice 67660703:variant goto	ACD upstream_gene_variant c.-483T>C ACD upstream_gene_variant c.-483T>C	DUS2 Brain_Hypothalamus 3.871 0.598	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	18	18	10	chr16_67660703_A_G_b38	-	MODIFIER	chr16	A A	G G	TogoVar
67662462:splice 67662462:variant goto	ACD upstream_gene_variant c.-2242C>T ACD upstream_gene_variant c.-2242C>T	DUS2 Brain_Hypothalamus 3.871 0.598	1 1 1 1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp2 NA20752.hp1	0.035	18	18	10	chr16_67662462_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar

Haplotype Detail Info [ACD_chr16_67652512_67665260>a0001]

🧬 Gene Summary

🧬 JoGo Online Haplotype Explorer ACD_chr16_67652512_67665260

AVariants in Amino-acids (protein) level Haplotype (Total: 1)

AAmino-acid (protein) Level Haplotype Info (Total: 1)

📊 HaplotypeQTL Info

⚡ Splicing Related Variants (Total: 22)

🩺 Clinvar Related Variants (Total: 30)

GWASCatalog Related Variants (Total: 1)

GTEx Related Variants (Page 1 of 14 - Total: 1316)