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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01261.hp2 others(6): Show HG00408.hp1 HG00639.hp2 HG01261.hp2 HG02698.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03688.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0002c0004	a0001c0001t0011 a0001c0002t0005 a0001c0002t0028 others(6): Show a0001c0001t0011 a0001c0002t0005 a0001c0002t0028 a0001c0002t0033 a0001c0002t0051 a0001c0002t0062 a0001c0013t0044 a0002c0004t0009 a0002c0004t0153	a0001c0001t0011g0149 a0001c0002t0005g0090 a0001c0002t0028g0026 others(6): Show a0001c0001t0011g0149 a0001c0002t0005g0090 a0001c0002t0028g0026 a0001c0002t0033g0025 a0001c0002t0051g0024 a0001c0002t0062g0041 a0001c0013t0044g0155 a0002c0004t0009g0053 a0002c0004t0153g0114	9	170	0.0529	36	c.490 others(53): Show c.490-3130_490-3129insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2_chr1_206198541_206469436	206459412	C C	CCTGCACC others(29): Show CCTGCACCTGGTTTTAAAGACCTAAAAAATACTCTGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG03453.hp2 others(1): Show HG02055.hp1 HG02572.hp2 HG03453.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0005 a0001c0002t0005 a0001c0003t0005	a0001c0002t0005g0064 a0001c0002t0005g0078 a0001c0003t0005g0132 others(1): Show a0001c0002t0005g0064 a0001c0002t0005g0078 a0001c0003t0005g0132 a0001c0003t0005g0164	4	182	0.0220	36	c.283 others(53): Show c.2832+471_2832+506dupCCTGGTTTTAAAGACCTAAAAAATACTC TGGCTGCA		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	8987642	T T	TGTTAGGG others(29): Show TGTTAGGGGACTATGGATGGTTAGGGGACTATGGATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02145.hp1 others(10): Show HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0006c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 a0001c0001t0027 a0001c0001t0036 a0001c0002t0004 a0001c0007t0020 a0001c0011t0022 a0006c0019t0017	a0001c0001t0002g0016 a0001c0001t0004g0215 a0001c0001t0017g0098 others(10): Show a0001c0001t0002g0016 a0001c0001t0004g0215 a0001c0001t0017g0098 a0001c0001t0017g0133 a0001c0001t0023g0071 a0001c0001t0023g0134 a0001c0001t0027g0004 a0001c0001t0036g0204 a0001c0002t0004g0037 a0001c0007t0020g0074 a0001c0011t0022g0010 a0001c0011t0022g0181 a0006c0019t0017g0089	13	228	0.0570	36	c.288 others(55): Show c.2887-1711_2887-1710insCATCCATAGTCCCCTAACCATCCATA GTCCCCTAAC		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	21/21						chr3	TogoVar
SRL_chr16_4184374_4247080	4204406	T T	TACAGCCC others(29): Show TACAGCCCCGGCCTCCAAGATACAGCCCCGGCCTCTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0302 a0001c0001t0006g0302	1	358	0.0028	36	c.163 others(51): Show c.163+126_163+127insTAGAGGCCGGGGCTGTATCTTGGAGGCCGG GGCTGT		SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	2/5						chr16	TogoVar
SRL_chr16_4184374_4247080	4204406	T T	TACAGCCC others(29): Show TACAGCCCCGGCCTCTAAGATACAGCCCCGGCCTCCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19002.hp1 NA18747.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0043 a0001c0002t0003 a0001c0002t0043	a0001c0002t0003g0030 a0001c0002t0043g0333 a0001c0002t0003g0030 a0001c0002t0043g0333	2	358	0.0056	36	c.163 others(51): Show c.163+126_163+127insTGGAGGCCGGGGCTGTATCTTAGAGGCCGG GGCTGT		SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	2/5						chr16	TogoVar
SRP68_chr17_76033785_76077517	76062732	T T	TATATATA others(29): Show TATATATATATATAAAATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0331 a0001c0003t0001g0331	1	365	0.0027	36	c.562 others(53): Show c.562-1159_562-1158insTTTATATATATATATATATATTTTATAT ATATATAT		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062732	T T	TATATATA others(29): Show TATATATATATATATAAAATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG03098.hp1 HG01069.hp2 HG01071.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0308 a0001c0003t0001g0011 a0001c0003t0001g0308	3	365	0.0082	36	c.562 others(53): Show c.562-1159_562-1158insTTTATATATATATATATATTTTATATAT ATATATAT		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062734	T T	TATATATA others(29): Show TATATATATATATAAAATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02647.hp1 HG02809.hp2 others(2): Show HG01106.hp2 HG02647.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0009 a0001c0003t0001 a0001c0003t0009	a0001c0003t0001g0301 a0001c0003t0001g0314 a0001c0003t0001g0316 others(2): Show a0001c0003t0001g0301 a0001c0003t0001g0314 a0001c0003t0001g0316 a0001c0003t0001g0322 a0001c0003t0009g0315	5	365	0.0137	36	c.562 others(53): Show c.562-1161_562-1160insTTTATATATATATATATATATTTTATAT ATATATAT		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062734	T T	TATATATA others(29): Show TATATATATATATATAAAATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0319 a0001c0003t0001g0319	1	365	0.0027	36	c.562 others(53): Show c.562-1161_562-1160insTTTATATATATATATATATTTTATATAT ATATATAT		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062738	T T	TATATATA others(29): Show TATATATAAAATATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	365	0.0027	36	c.562 others(53): Show c.562-1165_562-1164insTTTATATATATATATATATATATATATT TTATATAT		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRPK2_chr7_105111374_105393921	105159464	A A	ACAAAAAA others(29): Show ACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02897.hp2 HG02258.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0012 a0001c0001t0001g0017	2	282	0.0071	36	c.621 others(53): Show c.621+1042_621+1043insGTTTTTTTTTTTTTTTTTTTTTTGTTTT TTTTTTTG		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105159464	A A	ACAAAAAA others(29): Show ACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	282	0.0036	36	c.621 others(53): Show c.621+1042_621+1043insGTGTTTTTTTTTTTTTTTTTTTTGTTTT TTTTTTTG		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105159464	A A	ACAAAAAA others(29): Show ACAAAAAAAAAAACAAAAAAACAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	282	0.0036	36	c.621 others(53): Show c.621+1042_621+1043insGTTTTTTTTTTTTTTGTTTTTTTGTTTT TTTTTTTG		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170745	G G	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	282	0.0036	36	c.230 others(53): Show c.230-1516_230-1481dupTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15						chr7	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 NA18987.hp1 HG01257.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0145 a0001c0001t0001g0158	2	352	0.0057	36	c.-28 others(47): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding					2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04204.hp1 HG04199.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0204 a0001c0001t0002g0143 a0001c0001t0001g0204 a0001c0001t0002g0143	2	352	0.0057	36	c.726 others(51): Show c.726-371_726-370insATATATATATATATATATATATATATATAT ATATAT		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM5_chr19_43607088_43619498	43609359	G G	GGAGAGAG others(29): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	416	0.0024	36	c.-27 others(47): Show c.-2763_-2762insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA		SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding					2728		chr19	TogoVar
SRXN1_chr20_641615_658200	642420	G G	GGCCCAGC others(29): Show GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	422	0.0024	36	c.62 others(47): Show c.6293_*6294insGCCCCCCCCCCACAGGCAACTCCACCCCCGCTGG GC		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					4194		chr20	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0163 a0001c0001t0017g0163	1	280	0.0036	36	c.927 others(53): Show c.927+3680_927+3681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	280	0.0036	36	c.276 others(55): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSC4D_chr7_76384337_76414697	76394815	G G	GTATAATA others(29): Show GTATAATATATATGATATATATTATATATAAGATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00597.hp2 others(67): Show HG00099.hp1 HG00323.hp1 HG00597.hp2 HG01081.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG03017.hp1 HG03139.hp2 HG03490.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp1 NA18971.hp2 NA18972.hp1 NA18980.hp2 NA18984.hp1 NA18988.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp1 NA19062.hp2 NA19065.hp2 NA19080.hp1 NA19082.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0007 a0010 a0013	a0001c0001 a0001c0004 a0003c0003 others(4): Show a0001c0001 a0001c0004 a0003c0003 a0006c0009 a0007c0010 a0010c0020 a0013c0021	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0003c0003t0001 a0006c0009t0003 a0007c0010t0003 a0010c0020t0005 a0013c0021t0001	a0001c0001t0001g0181 a0001c0001t0001g0215 a0001c0004t0001g0233 others(61): Show a0001c0001t0001g0181 a0001c0001t0001g0215 a0001c0004t0001g0233 a0001c0004t0003g0077 a0001c0004t0003g0079 a0001c0004t0003g0080 a0001c0004t0003g0081 a0001c0004t0003g0086 a0001c0004t0003g0087 a0001c0004t0003g0088 a0001c0004t0003g0089 a0001c0004t0003g0090 a0001c0004t0003g0091 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0095 a0001c0004t0003g0096 a0001c0004t0003g0099 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0104 a0001c0004t0003g0105 a0001c0004t0003g0158 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0167 a0006c0009t0003g0059 a0006c0009t0003g0060 a0006c0009t0003g0061 a0006c0009t0003g0062 a0007c0010t0003g0093 a0007c0010t0003g0097 a0007c0010t0003g0100 a0010c0020t0005g0057 a0013c0021t0001g0139	70	388	0.1804	36	c.946 others(51): Show c.946+402_946+437dupTATATCTTATATATAATATATATCATATAT ATTATA		SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	7/10						chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495216	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0052 a0001c0013t0001g0052	1	412	0.0024	36	c.138 others(53): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATAT		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0379 a0005c0005t0001g0379	1	412	0.0024	36	c.138 others(53): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATTTTTTT		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55518188	T T	TGCTGACC others(29): Show TGCTGACCCCACCACTACTCCTGATCCCACCACAACC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18960.hp2 NA18960.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0100 a0004c0014t0001g0100	1	412	0.0024	36	c.391 others(45): Show c.3912_3913insGCTGACCCCACCACTACTCCTGATCCCACCACAACC	p.Thr others(51): Show p.Thr1304_Pro1305insAlaAspProThrThrThrProAspProThr ThrThr	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	14/14	4067/4977	3913/4722	1305/1573			chr19	TogoVar
SSTR5_chr16_1067747_1086454	1078737	T T	TCCCGCGC others(29): Show TCCCGCGCCTCCTGGCAGGCGGGGCTGGGGCCCAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0130	1	350	0.0029	36	c.-27 others(50): Show c.-27-104_-27-69dupCCCGCGCCTCCTGGCAGGCGGGGCTGGGGCC CAGGA		SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
SSU72_chr1_1536673_1579863	1572306	T T	TTTTTTTT others(29): Show TTTTTTTTATTTCTTTTTTTTTTTTTTTATTTTTGAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0264 a0001c0001t0007g0264	1	386	0.0026	36	c.80+ others(51): Show c.80+2171_80+2172insTTCAAAAATAAAAAAAAAAAAAAAGAAATA AAAAAA		SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	1/4						chr1	TogoVar
SSX2_chrX_52691896_52712178	52708959	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG03704.hp2 HG01168.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0003g0073 a0001c0001t0001g0072 a0001c0001t0003g0073	2	98	0.0204	36	c.-18 others(47): Show c.-1869_-1868insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT		SSX2	ENSG00000241476.9	transcript	ENST00000337502.6	protein_coding					1782		chrX	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	344	0.0029	36	c.58 others(47): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding					3871		chr22	TogoVar
ST13_chr22_40819535_40861639	40821760	A A	ATATATAT others(29): Show ATATATATATACGTATATATATATACGTATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0158 a0001c0001t0011g0158	1	344	0.0029	36	c.47 others(47): Show c.4777_*4778insCGTATATATACGTATATATATATACGTATATATA TA		ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding					2774		chr22	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	312	0.0032	36	c.-10 others(59): Show c.-1003-10708_-1003-10707insAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA		ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6						chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43904999	T T	TCCTGCTC others(29): Show TCCTGCTCCTCTTCCCACCACTCTTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02451.hp1 others(19): Show HG01891.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0198 a0001c0001t0001g0242 others(19): Show a0001c0001t0001g0072 a0001c0001t0001g0198 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263	22	274	0.0803	36	c.744 others(53): Show c.744+5336_744+5371dupCCTCCTCCCCCTGCTCCTCTTCCCACCA CTCTTCCT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905326	C C	CCTGTTCC others(29): Show CCTGTTCCCCTTCCCACCACTCTTCCCCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03540.hp2 HG00642.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0022 a0001c0001t0002g0025	2	274	0.0073	36	c.744 others(53): Show c.744+5607_744+5642dupCCTTCCCACCACTCTTCCCCCTCCTCCT TCTGTTCC		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905468	C C	CTCCTCCT others(29): Show CTCCTCCTGTTCCCCTTCCCACCACTCTTCCTCTCCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp2 HG02074.hp1 others(1): Show HG01074.hp2 HG01496.hp2 HG02074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0035 a0001c0001t0004g0040 others(1): Show a0001c0001t0004g0024 a0001c0001t0004g0035 a0001c0001t0004g0040 a0001c0001t0004g0056	4	274	0.0146	36	c.744 others(53): Show c.744+5760_744+5795dupCACCACTCTTCCTCTCCGTCCTCCTGTT CCCCTTCC		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905559	T T	TGCCACTG others(29): Show TGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01978.hp1 HG02559.hp2 others(2): Show HG01358.hp1 HG01978.hp1 HG02559.hp2 NA18982.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0144 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0190 a0001c0001t0001g0191	5	274	0.0183	36	c.744 others(53): Show c.744+5926_744+5961dupCCTGCTTCTCTTCCCGCCACTGTTTCTC CCCCTCCT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905581	C C	CCTGCTCC others(29): Show CCTGCTCCTCTTCCCGCCACTGTTTCTCCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	274	0.0037	36	c.744 others(53): Show c.744+5859_744+5860insCCTCTTCCCGCCACTGTTTCTCCCCCTC CTTCTGCT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905595	C C	CACCACTC others(29): Show CACCACTCTTCCTCTCCGTCCTCCTGTTCCCCTTCCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	274	0.0037	36	c.744 others(53): Show c.744+5868_744+5869insACCACTCTTCCTCTCCGTCCTCCTGTTC CCCTTCCT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11						chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905605	T T	TCTACCCC others(29): Show TCTACCCCTCCTTCTGCCCCCCTTCCCACCACTCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	274	0.0037	36	c.744 others(53): Show c.744+5880_744+5881insACCCCTCCTTCTGCCCCCCTTCCCACCA CTCTTCCT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905680	C C	CCCCCTCC others(29): Show CCCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02717.hp1 HG03710.hp1 HG00099.hp2 HG02717.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0138 a0001c0001t0001g0173 a0001c0001t0001g0183	3	274	0.0110	36	c.744 others(53): Show c.744+5961_744+5962insCCTGCTTCTCTTCCCGCCACTGTTTCTA CCCCTCCT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43906145	G G	GTTCCTCC others(29): Show GTTCCTCCCCCTCCTCCTGTTCCCCTTCCTGCCACTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(78): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01175.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01981.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02280.hp2 HG02523.hp1 HG02698.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG03017.hp2 HG03041.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18939.hp1 NA18946.hp1 NA18947.hp2 NA18954.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0180 a0001c0001t0002g0001 a0001c0001t0002g0003 others(78): Show a0001c0001t0001g0180 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0149 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0234 a0001c0001t0004g0047 a0001c0001t0005g0006 a0001c0001t0005g0007	81	274	0.2956	36	c.744 others(53): Show c.744+6473_744+6508dupTTCCCCTTCCTGCCACTCTTCCTCCCCC TCCTCCTG		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43906181	C C	CTTCCTCC others(29): Show CTTCCTCCCCCTCCTCCTGTTCCCCTTCCTGCCACTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	274	0.0037	36	c.744 others(53): Show c.744+6489_744+6490insGTTCCTCCCCCTCCTCCTGTTCCCCTTC CTGCCACT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43917492	A A	ATATATAA others(29): Show ATATATAATATATTATATAATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0037 a0001c0001t0009g0037	1	274	0.0037	36	c.745 others(53): Show c.745-2896_745-2861dupATAATATAATATATATTATATTATATAA TATATTAT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76525793	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	102	0.0098	36	c.624 others(57): Show c.624-101658_624-101623dupTATATATATATATATATATATATA TATATATATATG		ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAATTA others(29): Show AAAAATTAAAGTAAAGTAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp2 HG03139.hp2 others(1): Show HG02622.hp2 HG02970.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0002t0001g0044	4	188	0.0213	36	c.152 others(55): Show c.152-72296_152-72295insATTAAAGTAAAGTAAAGTAAAGTAAA GTAAAGTAAA		ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00621.hp1 others(51): Show HG00323.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp2 HG02602.hp1 HG02738.hp1 HG02895.hp1 HG02970.hp2 HG03130.hp1 HG03490.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18940.hp2 NA18945.hp2 NA18948.hp1 NA18953.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp2 NA18974.hp1 NA18985.hp2 NA18991.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19068.hp1 NA19072.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0031 a0001c0001t0036 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052 a0001c0001t0053 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0091 a0001c0001t0106 a0001c0001t0107 a0001c0001t0120 a0001c0001t0121 a0001c0002t0013 a0001c0003t0030	a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0053 others(51): Show a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0104 a0001c0001t0002g0126 a0001c0001t0002g0197 a0001c0001t0002g0211 a0001c0001t0002g0218 a0001c0001t0002g0247 a0001c0001t0003g0224 a0001c0001t0003g0251 a0001c0001t0004g0317 a0001c0001t0004g0349 a0001c0001t0006g0099 a0001c0001t0007g0303 a0001c0001t0007g0304 a0001c0001t0007g0312 a0001c0001t0007g0356 a0001c0001t0008g0277 a0001c0001t0008g0293 a0001c0001t0008g0321 a0001c0001t0011g0238 a0001c0001t0013g0320 a0001c0001t0015g0205 a0001c0001t0015g0206 a0001c0001t0016g0037 a0001c0001t0019g0353 a0001c0001t0020g0069 a0001c0001t0021g0168 a0001c0001t0021g0171 a0001c0001t0021g0222 a0001c0001t0023g0307 a0001c0001t0031g0075 a0001c0001t0036g0198 a0001c0001t0039g0272 a0001c0001t0042g0344 a0001c0001t0045g0333 a0001c0001t0046g0002 a0001c0001t0052g0066 a0001c0001t0053g0112 a0001c0001t0068g0167 a0001c0001t0071g0094 a0001c0001t0072g0228 a0001c0001t0074g0095 a0001c0001t0079g0160 a0001c0001t0081g0039 a0001c0001t0082g0082 a0001c0001t0091g0194 a0001c0001t0106g0269 a0001c0001t0107g0268 a0001c0001t0120g0330 a0001c0001t0121g0326 a0001c0002t0013g0323 a0001c0003t0030g0239	54	362	0.1492	36	c.132 others(55): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA		ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6						chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46719704	T T	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG02132.hp1 others(4): Show HG00609.hp2 HG00741.hp1 HG02132.hp1 HG02922.hp1 HG03130.hp2 NA18962.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0035	a0001c0001t0001g0033 a0001c0001t0001g0080 a0001c0001t0001g0146 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0080 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0006g0154 a0001c0001t0017g0067 a0001c0001t0035g0149	7	362	0.0193	36	c.132 others(55): Show c.132-15041_132-15040insGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA		ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6						chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp1 HG02109.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0269 a0001c0001t0015g0035 a0001c0001t0012g0269 a0001c0001t0015g0035	2	296	0.0068	36	c.291 others(55): Show c.291-15165_291-15164insGTGTGTATATATATATATATATATAT ATATATATAT		ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7						chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp2 HG01257.hp1 others(10): Show HG01070.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp2 HG03453.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18998.hp1 NA19043.hp2 NA19077.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0027	a0001c0001t0001g0191 a0001c0001t0001g0233 a0001c0001t0001g0234 others(10): Show a0001c0001t0001g0191 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0096 a0001c0001t0002g0155 a0001c0001t0002g0182 a0001c0001t0003g0188 a0001c0001t0004g0144 a0001c0001t0005g0229 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0238 a0001c0001t0027g0237	13	296	0.0439	36	c.291 others(55): Show c.291-15165_291-15164insGTGTATATATATATATATATATATAT ATATATATAT		ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7						chr10	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(29): Show TATATATATATACACACACATACATATACATACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01884.hp1 homoSapiens_chm13v2.hp1 HG00609.hp1 HG01884.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0062	3	240	0.0125	36	c.902 others(53): Show c.902+1989_902+1990insGTGTGTATGTATATGTATGTGTGTGTAT ATATATAT		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33						chr3	TogoVar
STAG1_chr3_136331236_136757378	136502225	T T	TGTCATTG others(29): Show TGTCATTGTAAAACTGAGACCAATCTTATTCACAGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0193 a0001c0002t0014g0193	1	240	0.0042	36	c.828 others(51): Show c.828+402_828+403insTTCTGTGAATAAGATTGGTCTCAGTTTTAC AATGAC		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	8/33						chr3	TogoVar
STAG1_chr3_136331236_136757378	136540822	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	240	0.0042	36	c.471 others(53): Show c.471+1296_471+1297insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33						chr3	TogoVar

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