Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC6A11_chr3_10811228_10945714	10873627	A A	ATCCTATC others(33): Show ATCCTATCCTATCCTATGCCATGCTATCCTATCCTATCCTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01069.hp1 others(35): Show HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01168.hp1 HG01175.hp1 HG01884.hp2 HG02071.hp2 HG02074.hp1 HG02559.hp2 HG02630.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03453.hp1 HG03540.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp1 NA18906.hp1 NA18941.hp1 NA18945.hp1 NA18948.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp2 NA18962.hp2 NA18965.hp1 NA18971.hp2 NA18978.hp1 NA18979.hp2 NA18991.hp2 NA19010.hp1 NA19056.hp1 NA19075.hp2 NA19076.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0014 a0001c0021 a0004c0023	a0001c0001t0006 a0001c0002t0002 a0001c0003t0001 others(9): Show a0001c0001t0006 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0007 a0001c0004t0001 a0001c0004t0028 a0001c0005t0002 a0001c0010t0001 a0001c0014t0005 a0001c0021t0026 a0004c0023t0001	a0001c0001t0006g0021 a0001c0002t0002g0001 a0001c0002t0002g0017 others(34): Show a0001c0001t0006g0021 a0001c0002t0002g0001 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0003t0001g0266 a0001c0003t0001g0276 a0001c0003t0001g0351 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0007g0249 a0001c0004t0001g0196 a0001c0004t0001g0204 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0236 a0001c0004t0001g0243 a0001c0004t0001g0267 a0001c0004t0001g0272 a0001c0004t0001g0274 a0001c0004t0001g0275 a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0001g0279 a0001c0004t0001g0280 a0001c0004t0001g0283 a0001c0004t0001g0288 a0001c0004t0028g0273 a0001c0005t0002g0321 a0001c0010t0001g0353 a0001c0014t0005g0012 a0001c0014t0005g0025 a0001c0021t0026g0329 a0004c0023t0001g0252	38	362	0.1050	40	c.757 others(57): Show c.757-1330_757-1329insATCCTATCCTATGCCATGCTATCCTATC CTATCCTGTCCT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A3_chr5_1387794_1450440	1422634	C C	CCACAGTG others(33): Show CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0123 a0001c0001t0002g0124	2	373	0.0054	40	c.654 others(55): Show c.654-621_654-620insTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1423008	A A	ACGGTGCT others(33): Show ACGGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0030 a0001c0013t0030	a0001c0013t0030g0266 a0001c0013t0030g0266	1	373	0.0027	40	c.654 others(55): Show c.654-995_654-994insCGTGGGCAGCGGTGGGCACCCAGCACCGTG GGCAGCACCG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1423120	A A	ACGGTGCT others(33): Show ACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0342 a0001c0001t0008g0342	1	373	0.0027	40	c.654 others(57): Show c.654-1107_654-1106insCGTGGGCAGCGGTGGGCACCCAGCAGCG TGGGCAGCACCG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29553181	A A	AAGGAGAA others(33): Show AAGGAGAAGAGTGAGAAGAATGGGAGCAAGATGAAAAGTTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0193 a0001c0001t0012g0193	1	330	0.0030	40	c.-15 others(55): Show c.-15+540_-15+579dupGAACTTTTCATCTTGCTCCCATTCTTCTCA CTCTTCTCCT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	2/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG03654.hp2 HG01081.hp1 HG01081.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0024 a0001c0001t0037 a0001c0001t0008 a0001c0001t0024 a0001c0001t0037	a0001c0001t0008g0044 a0001c0001t0024g0269 a0001c0001t0037g0270 a0001c0001t0008g0044 a0001c0001t0024g0269 a0001c0001t0037g0270	3	330	0.0091	40	c.-11 others(59): Show c.-114-1498_-114-1497insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558225	G G	GTGAGGGG others(33): Show GTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02004.hp2 HG02132.hp2 others(3): Show HG00438.hp2 HG02004.hp2 HG02132.hp2 NA18612.hp1 NA18995.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0002	a0001c0001t0002g0124 a0001c0001t0002g0303 a0001c0001t0003g0237 others(3): Show a0001c0001t0002g0124 a0001c0001t0002g0303 a0001c0001t0003g0237 a0001c0001t0003g0305 a0001c0001t0009g0178 a0001c0002t0002g0304	6	330	0.0182	40	c.-11 others(59): Show c.-114-4366_-114-4365insTTCAGATTCACTCCCCCTCACTCACA TTCACTCCCCCTCA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558428	G G	GTGGGGGG others(33): Show GTGGGGGGAGAGAATGTGAGTGAGGGGGGAGTGAATGTGAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0265 a0001c0001t0014g0265	1	330	0.0030	40	c.-11 others(59): Show c.-114-4569_-114-4568insTTCACATTCACTCCCCCCTCACTCAC ATTCTCTCCCCCCA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558831	G G	GGGGGAGA others(33): Show GGGGGAGAGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0222 a0001c0002t0004g0222	1	330	0.0030	40	c.-11 others(59): Show c.-114-4972_-114-4971insTCACTCACATTCACTCCCCCCTCACT CACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558952	G G	GGGGGAGA others(33): Show GGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	330	0.0030	40	c.-11 others(59): Show c.-114-5093_-114-5092insGTCACTCACATTCACTCCCCCTCACT CACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558971	A A	ACGGGGAG others(33): Show ACGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGTGAGTG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0251 a0001c0001t0014g0251	1	330	0.0030	40	c.-11 others(59): Show c.-114-5112_-114-5111insCACTCACATTCTCTCCCCCCTCACTC ACATTCACTCCCCG	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559090	G G	GGGGGGAG others(33): Show GGGGGGAGTGAATGTGAGTGACGGGGAGTGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG03491.hp1 others(1): Show HG01516.hp2 HG01517.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0001t0012g0225 others(1): Show a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0001t0012g0225 a0001c0001t0012g0226	4	330	0.0121	40	c.-11 others(59): Show c.-114-5231_-114-5230insTCACTCACATTCACTCCCCGTCACTC ACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A5_chr16_87825023_87874507	87863986	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0329 a0001c0001t0007g0329	1	390	0.0026	40	c.538 others(57): Show c.538+4898_538+4899insATATATATATATATATATATATATATAT ATATATATATAT	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	1/9			chr16	TogoVar
SLC7A7_chr14_22768222_22820435	22812773	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp1 HG02717.hp2 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0371 a0001c0005t0002g0372 a0001c0005t0002g0371 a0001c0005t0002g0372	2	402	0.0050	40	c.499 others(55): Show c.499+126_499+127insTATATATATATATATATATATATATATATA TATATATATA	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0185 a0001c0001t0185	a0001c0001t0185g0185 a0001c0001t0185g0185	1	236	0.0042	40	c.79 others(51): Show c.7973_*7974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40288834	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0168 a0001c0001t0168	a0001c0001t0168g0125 a0001c0001t0168g0125	1	236	0.0042	40	c.180 others(63): Show c.1809-110342_1809-110341insATATATATATATATATATATAT ATATATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A2_chr2_102614553_102716355	102646768	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	344	0.0029	40	c.290 others(59): Show c.290-10774_290-10773insATATATATATATATATATATATATAT ATATATATATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A3_chr5_465456_529449	502826	C C	CGCTGTGT others(33): Show CGCTGTGTTCCAGTGAAACTTTACCACTCACTACCAGTGAG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	218	0.0046	40	c.212 others(59): Show c.212-10756_212-10755insCTCACTGGTAGTGAGTGGTAAAGTTT CACTGGAACACAGC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143449381	A A	ATTATATA others(33): Show ATTATATAATTATATAAAATATAATTATATTATATAATTAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0021 a0001c0015t0021	a0001c0015t0021g0066 a0001c0015t0021g0066	1	108	0.0093	40	c.146 others(61): Show c.1469+17655_1469+17656insATAATTATATAATATAATTATATT TTATATAATTATATAA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143634147	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	108	0.0093	40	c.755 others(59): Show c.755+18107_755+18108insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	6/15			chr3	TogoVar
SLC9C1_chr3_112135898_112299216	112271393	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01993.hp1 NA19060.hp1 HG01081.hp1 HG01993.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0117 a0001c0002t0001g0120 a0001c0002t0001g0096 a0001c0002t0001g0117 a0001c0002t0001g0120	3	372	0.0081	40	c.614 others(57): Show c.614-1317_614-1316insTATATATATATATATATATATATATATA TATATATATATA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	6/28			chr3	TogoVar
SLCO1A2_chr12_21259600_21339917	21299854	G G	GTATATAT others(33): Show GTATATATATATATACGTGTGTGTATATATATATACGTGTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp1 HG03453.hp1 HG02717.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0032 a0001c0001t0011 a0001c0001t0032	a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0032g0131 a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0032g0131	3	310	0.0097	40	c.910 others(55): Show c.910+493_910+494insTACACGTATATATATATACACACACGTATA TATATATATA	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	8/14			chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(33): Show GTATGTGTGTGTGTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0123 a0001c0008t0006g0123	1	284	0.0035	40	c.21 others(51): Show c.2187_*2188insTATGTGTGTGTGTGTGTATATATATATATATATA TATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG01891.hp1 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0006 a0001c0001t0003 a0002c0005t0006	a0001c0001t0003g0065 a0002c0005t0006g0173 a0001c0001t0003g0065 a0002c0005t0006g0173	2	190	0.0105	40	c.646 others(59): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(33): Show TAGATAGATAGATAGATTAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	190	0.0053	40	c.647 others(59): Show c.647-78627_647-78626insAGATAGATAGATAGATTAGATAGATA GATAGATAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(33): Show TAGATAGATAGATTAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	190	0.0053	40	c.647 others(59): Show c.647-78627_647-78626insAGATAGATAGATTAGATAGATAGATA GATAGATAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO5A1_chr8_69662046_69839978	69772563	A A	AGAAAGGA others(33): Show AGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18522.hp2 HG02723.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0023 a0002c0002 a0002c0023	a0002c0002t0004 a0002c0023t0016 a0002c0002t0004 a0002c0023t0016	a0002c0002t0004g0100 a0002c0023t0016g0119 a0002c0002t0004g0100 a0002c0023t0016g0119	2	280	0.0071	40	c.908 others(59): Show c.908-10728_908-10689dupCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTC	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLFN12_chr17_35405922_35437500	35434408	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0072 a0003c0003t0002g0072	1	426	0.0024	40	c.-22 others(51): Show c.-2262_-2261insTTTCTTTCTTTCTTTCTTTCTTTCCCTTCCTTCC TTCCTT	SLFN12	ENSG00000172123.13	transcript	ENST00000304905.10	protein_coding		1909		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	428	0.0023	40	c.-11 others(51): Show c.-1107_-1106insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCCTCC others(33): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02647.hp2 HG01255.hp1 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0006 a0001c0005t0033 a0001c0003t0006 a0001c0005t0033	a0001c0003t0006g0100 a0001c0005t0033g0083 a0001c0003t0006g0100 a0001c0005t0033g0083	2	230	0.0087	40	c.395 others(59): Show c.395+38282_395+38283insCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCCTCC others(33): Show CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	230	0.0044	40	c.395 others(59): Show c.395+38282_395+38283insCTCCCTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472376	C C	CTAGATAT others(33): Show CTAGATATATATCTATATATATAGAGATATAGATATCTATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18952.hp1 HG01123.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0106 a0001c0002t0001g0078 a0001c0001t0001g0106 a0001c0002t0001g0078	2	230	0.0087	40	c.467 others(57): Show c.467+4555_467+4556insGATATATATCTATATATATAGAGATATA GATATCTATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472376	C C	CTCTATAT others(33): Show CTCTATATATATCTATATATATAGAGATATAGATATCTATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18990.hp1 HG02083.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0077 a0001c0001t0002 a0001c0002t0077	a0001c0001t0002g0117 a0001c0002t0077g0020 a0001c0001t0002g0117 a0001c0002t0077g0020	2	230	0.0087	40	c.467 others(57): Show c.467+4554_467+4555insCTATATATATCTATATATATAGAGATAT AGATATCTATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472378	A A	ATATATAT others(33): Show ATATATATATCTATATATATAGATATATAGATATCTATATC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03041.hp2 NA20905.hp1 HG02683.hp2 HG03041.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0008 a0001c0001t0013 a0001c0002t0008	a0001c0001t0013g0165 a0001c0002t0008g0191 a0001c0002t0008g0192 a0001c0001t0013g0165 a0001c0002t0008g0191 a0001c0002t0008g0192	3	230	0.0130	40	c.467 others(57): Show c.467+4562_467+4563insATCTATATATATAGATATATAGATATCT ATATCTATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472380	A A	ATATATAT others(33): Show ATATATATATCTATATATATAGATATAGATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0227 a0001c0001t0018g0227	1	230	0.0044	40	c.467 others(57): Show c.467+4562_467+4563insATATCTATATATATAGATATAGATATCT ATATATCTATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472380	A A	ATATATAT others(33): Show ATATATATCTATATATATAGAGATATAGATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp1 others(13): Show HG00323.hp2 HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01934.hp1 HG02055.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0001t0020 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0030 a0001c0003t0001 a0001c0003t0006 a0001c0019t0040	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0003g0091 others(13): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0003g0091 a0001c0001t0003g0103 a0001c0001t0007g0178 a0001c0001t0015g0046 a0001c0001t0020g0131 a0001c0002t0004g0208 a0001c0002t0008g0186 a0001c0002t0011g0209 a0001c0002t0011g0220 a0001c0002t0016g0052 a0001c0002t0030g0200 a0001c0003t0001g0098 a0001c0003t0006g0141 a0001c0019t0040g0045	16	230	0.0696	40	c.467 others(57): Show c.467+4562_467+4563insATCTATATATATAGAGATATAGATATCT ATATATCTATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472511	G G	GATAGATA others(33): Show GATAGATATATATCTATATATAGATATATCTATATCTATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19005.hp1 NA18942.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0194 a0001c0001t0008g0196 a0001c0001t0008g0194 a0001c0001t0008g0196	2	230	0.0087	40	c.467 others(57): Show c.467+4723_467+4762dupCTATATATAGATATATATCTATATATAG ATATATCTATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518102	C C	CATATATA others(33): Show CATATATATACATATACATATATATACATATACATATATTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00738.hp1 others(12): Show HG00099.hp1 HG00323.hp2 HG00738.hp1 HG01123.hp2 HG01261.hp1 HG01358.hp2 HG01884.hp1 HG01934.hp1 HG02698.hp2 HG03239.hp1 HG03710.hp1 HG06807.hp1 NA18944.hp2 NA19060.hp2 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0030 a0001c0002t0043 a0001c0002t0081 a0001c0008t0001 a0001c0008t0031 a0007c0013t0046	a0001c0001t0001g0108 a0001c0001t0002g0143 a0001c0001t0004g0228 others(12): Show a0001c0001t0001g0108 a0001c0001t0002g0143 a0001c0001t0004g0228 a0001c0002t0002g0047 a0001c0002t0004g0205 a0001c0002t0004g0208 a0001c0002t0008g0186 a0001c0002t0011g0209 a0001c0002t0011g0220 a0001c0002t0030g0200 a0001c0002t0043g0064 a0001c0002t0081g0048 a0001c0008t0001g0138 a0001c0008t0031g0021 a0007c0013t0046g0060	15	230	0.0652	40	c.105 others(59): Show c.1059-1260_1059-1221dupTATATACATATACATATATTTATATA TATACATATACATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLITRK2_chrX_145812829_145834856	145814731	T T	TAAAAGAG others(33): Show TAAAAGAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0071 a0001c0004t0028g0071	1	326	0.0031	40	c.-40 others(51): Show c.-4088_-4087insAAAAGAGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		3097		chrX	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	386	0.0026	40	c.299 others(59): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX4IP_chr20_10430305_10633030	10618944	G G	GTGTGTGT others(33): Show GTGTGTGTGCGAGGGGCGGGACGGGTGGCGGAGAGGGGCGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0134 a0001c0001t0007g0134	1	266	0.0038	40	c.406 others(57): Show c.406-2370_406-2369insTGTGTGTGCGAGGGGCGGGACGGGTGGC GGAGAGGGGCGC	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	6/7			chr20	TogoVar
SMAD2_chr18_47803957_47935659	47828005	T T	TCCCGGCC others(33): Show TCCCGGCCGCCATCCCGTCTAGGAAGTGAGGAGCGTCTCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02486.hp1 others(5): Show HG01891.hp2 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG03139.hp1 HG03516.hp2 HG03927.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0247 a0001c0002t0248 a0001c0002t0249 others(5): Show a0001c0002t0247 a0001c0002t0248 a0001c0002t0249 a0001c0002t0250 a0001c0002t0251 a0001c0002t0252 a0001c0002t0253 a0001c0002t0254	a0001c0002t0247g0014 a0001c0002t0248g0303 a0001c0002t0249g0306 others(5): Show a0001c0002t0247g0014 a0001c0002t0248g0303 a0001c0002t0249g0306 a0001c0002t0250g0304 a0001c0002t0251g0305 a0001c0002t0252g0017 a0001c0002t0253g0015 a0001c0002t0254g0016	8	310	0.0258	40	c.13 others(53): Show c.13821_*13822insCAGAGACGCTCCTCACTTCCTAGACGGGATGG CGGCCGGG	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	13821		chr18	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCTCTCTC others(33): Show TCTCTCTCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02451.hp1 HG03139.hp1 others(1): Show HG01099.hp1 HG02451.hp1 HG03139.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0004g0019 others(1): Show a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0004g0019 a0001c0004t0004g0020	4	300	0.0133	40	c.621 others(57): Show c.6219+858_6219+859insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGAGAGAG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(33): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01255.hp1 HG02135.hp2 others(1): Show HG00597.hp1 HG01255.hp1 HG02135.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0107 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0107 a0001c0001t0001g0131	4	380	0.0105	40	c.17 others(51): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM31_chr4_164749131_164808795	164755534	A A	AGGAGGGG others(33): Show AGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp1 NA19043.hp2 HG02280.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0205 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0007g0205 a0001c0001t0007g0257 a0001c0001t0007g0258	3	364	0.0082	40	c.-26 others(57): Show c.-26+1127_-26+1128insGGGAGAGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	40	c.16 others(51): Show c.1695_*1696insTATATATATATATATATATATATATTTTTTTTTT TTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM41_chr12_52074704_52113255	52103835	A A	AGGTAGTT others(33): Show AGGTAGTTGAGAGGGGGTTAGTTAAGAAAAGACGGATTTTT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	382	0.0026	40	c.19 others(59): Show c.196-3544_*196-3543insGGTAGTTGAGAGGGGGTTAGTTAAGA AAAGACGGATTTTT	SMIM41	ENSG00000284791.2	transcript	ENST00000546390.2	protein_coding	2/2			chr12	TogoVar
SMOC1_chr14_69874416_70037366	69875963	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 NA18984.hp1 NA18984.hp2 HG02145.hp2 NA18984.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0002t0002g0012 a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0002t0002g0012	3	270	0.0111	40	c.-37 others(51): Show c.-3716_-3715insATATATATATATATATATATATATATATATATAT ATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		3452		chr14	TogoVar
SMPD2_chr6_109435724_109448919	109448097	G G	GACACACA others(33): Show GACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01952.hp1 HG02572.hp1 others(1): Show HG01433.hp2 HG01952.hp1 HG02572.hp1 HG02970.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0003 a0004c0005 a0001c0002 a0003c0003 a0004c0005	a0001c0002t0002 a0003c0003t0002 a0004c0005t0001 a0001c0002t0002 a0003c0003t0002 a0004c0005t0001	a0001c0002t0002g0002 a0003c0003t0002g0001 a0004c0005t0001g0003 a0001c0002t0002g0002 a0003c0003t0002g0001 a0004c0005t0001g0003	4	438	0.0091	40	c.41 others(51): Show c.4192_*4193insACACACACACACACACACACACACACACACACAC ACACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMR3B_chr4_70378131_70395244	70391022	C C	CACACACA others(33): Show CACACACACATATACACATACATATATATATACACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03516.hp2 NA19043.hp1 HG03130.hp2 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0022 a0001c0001t0001g0001 a0001c0001t0005g0022	3	462	0.0065	40	c.11 others(51): Show c.1174_*1175insACACACACATATACACATACATATATATATACAC ATACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		779		chr4	TogoVar

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