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
SETD4_chr21_36029541_36065526	36032604	C C	CTGTGGGG others(29): Show CTGTGGGGGCTGCTGTGTGTGGGGGTCGCTGTCCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	398	0.0025	36	c.33 others(47): Show c.3388_*3389insATAGGACAGCGACCCCCACACACAGCAGCCCCCA CA	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding		1936		chr21	TogoVar
SETD4_chr21_36029541_36065526	36032636	C C	CCTATTGT others(29): Show CCTATTGTGGGGGCTGCTGTGTGTGGGGGTCGCTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA19030.hp1 NA21309.hp1 HG02615.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0130 a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0007g0130 a0001c0001t0007g0131 a0001c0001t0007g0132	3	398	0.0075	36	c.33 others(47): Show c.3356_*3357insAACAGCGACCCCCACACACAGCAGCCCCCACAAT AG	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding		1904		chr21	TogoVar
SETD7_chr4_139501038_139561219	139549512	A A	ATTCCTTC others(29): Show ATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	316	0.0032	36	c.41- others(51): Show c.41-2464_41-2463insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	1/7			chr4	TogoVar
SETX_chr9_132256356_132359986	132284971	C C	CAGGTTCA others(29): Show CAGGTTCACGCCATTCTCCTGCCTCAGGCTCCCGAGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0004 a0004c0020t0004	a0004c0020t0004g0348 a0004c0020t0004g0348	1	362	0.0028	36	c.639 others(55): Show c.6396+1416_6396+1451dupACTCGGGAGCCTGAGGCAGGAGAATG GCGTGAACCT	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	18/25			chr9	TogoVar
SEZ6L_chr22_26164462_26388596	26244163	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18983.hp1 NA18982.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0219 a0001c0001t0005g0135 a0001c0001t0002g0219 a0001c0001t0005g0135	2	240	0.0083	36	c.95- others(53): Show c.95-48220_95-48219insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348748	A A	AGGGGGAG others(29): Show AGGGGGAGGGAAGGGGAGGGAAGGAGAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0011 a0001c0008t0001g0011	1	240	0.0042	36	c.240 others(53): Show c.2407+837_2407+838insGGGAGGGAAGGGGAGGGAAGGAGAGGGA AGGGAGGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18992.hp1 HG02300.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	344	0.0058	36	c.495 others(51): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFMBT1_chr3_52898572_53051073	52928637	C C	CATATATA others(29): Show CATATATATATATATACATATATACATATATATACAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0148 a0002c0010t0002g0148	1	328	0.0031	36	c.898 others(51): Show c.898-297_898-296insATGTATATATATGTATATATGTATATATAT ATATAT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18522.hp2 HG02451.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0025 a0001c0001t0001g0035	2	328	0.0061	36	c.124 others(53): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01975.hp2 HG02055.hp2 others(12): Show HG01123.hp1 HG01975.hp2 HG02055.hp2 HG02300.hp2 HG03195.hp1 HG03492.hp2 HG03669.hp1 HG03927.hp2 NA18939.hp1 NA18966.hp2 NA18977.hp2 NA18986.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 others(12): Show a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0170	15	318	0.0472	36	c.240 others(55): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	318	0.0031	36	c.240 others(55): Show c.2409-2670_2409-2669insTTATATATATATATATATATATATAT ATATATATAT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFTA2_chr6_30926353_30937170	30933426	G G	GCCCTCCC others(29): Show GCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(21): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG01981.hp2 HG02040.hp2 HG02074.hp2 HG02165.hp1 HG02523.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18968.hp2 NA18987.hp2 NA18997.hp2 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19058.hp2 NA19064.hp1 NA19070.hp2 NA19072.hp2 NA19082.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	24	435	0.0552	36	c.-13 others(47): Show c.-1331_-1330insAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GG	SFTA2	ENSG00000196260.5	transcript	ENST00000359086.4	protein_coding		1257		chr6	TogoVar
SFXN4_chr10_119135767_119170714	119146460	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	432	0.0023	36	c.819 others(51): Show c.819-108_819-107insGCGCGCGCACACACACACACACACACACAC ACACAC	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding	12/13			chr10	TogoVar
SFXN5_chr2_72937036_73076712	73047249	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	250	0.0040	36	c.172 others(53): Show c.172-6319_172-6318insGTGTGTGTATATATATATATATATATAT ATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047251	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	250	0.0040	36	c.172 others(53): Show c.172-6321_172-6320insGTGTGTATATATATATATATATATATAT ATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047253	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	250	0.0040	36	c.172 others(53): Show c.172-6323_172-6322insGTGTGTATATATATATATATATATATAT ATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(29): Show GCGCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0057 a0001c0002t0020g0057	1	250	0.0040	36	c.171 others(53): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02056.hp2 NA19090.hp1 others(1): Show HG00639.hp1 HG02056.hp2 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0008 a0001c0002t0022 a0001c0002t0004 a0001c0002t0008 a0001c0002t0022	a0001c0002t0004g0088 a0001c0002t0004g0104 a0001c0002t0008g0105 others(1): Show a0001c0002t0004g0088 a0001c0002t0004g0104 a0001c0002t0008g0105 a0001c0002t0022g0029	4	150	0.0267	36	c.192 others(53): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT ATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23275142	T T	TATATATA others(29): Show TATATATATATATATATATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0006 a0004c0017t0006	a0004c0017t0006g0066 a0004c0017t0006g0066	1	354	0.0028	36	c.386 others(53): Show c.386-4216_386-4215insTATATATATATATATATACATACATACA TACATACA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCZ_chr8_14079845_15243431	14207149	C C	CTGTTTAA others(29): Show CTGTTTAAAAAAAAAGTTTATTTTTAACATATTCTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00642.hp1 others(86): Show HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA19000.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(78): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0003c0003t0043	a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0002g0086 others(86): Show a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0002g0086 a0001c0001t0002g0095 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0005g0072 a0001c0001t0005g0091 a0001c0001t0006g0083 a0001c0001t0006g0092 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0010g0002 a0001c0001t0011g0042 a0001c0001t0012g0004 a0001c0001t0013g0026 a0001c0001t0014g0024 a0001c0001t0015g0005 a0001c0001t0016g0017 a0001c0001t0017g0011 a0001c0001t0018g0037 a0001c0001t0019g0028 a0001c0001t0020g0025 a0001c0001t0021g0015 a0001c0001t0022g0007 a0001c0001t0023g0029 a0001c0001t0024g0031 a0001c0001t0025g0022 a0001c0001t0026g0035 a0001c0001t0027g0010 a0001c0001t0028g0006 a0001c0001t0029g0016 a0001c0001t0030g0034 a0001c0001t0031g0013 a0001c0001t0032g0018 a0001c0001t0033g0003 a0001c0001t0036g0012 a0001c0001t0037g0032 a0001c0001t0039g0036 a0001c0001t0040g0038 a0001c0001t0041g0009 a0001c0001t0042g0040 a0001c0001t0044g0033 a0001c0001t0045g0008 a0001c0001t0048g0051 a0001c0001t0049g0046 a0001c0001t0050g0045 a0001c0001t0051g0074 a0001c0001t0052g0077 a0001c0001t0053g0056 a0001c0001t0054g0058 a0001c0001t0055g0100 a0001c0001t0056g0062 a0001c0001t0057g0087 a0001c0001t0058g0097 a0001c0001t0059g0055 a0001c0001t0060g0071 a0001c0001t0061g0049 a0001c0001t0062g0082 a0001c0001t0063g0094 a0001c0001t0064g0069 a0001c0001t0065g0047 a0001c0001t0066g0099 a0001c0001t0067g0068 a0001c0001t0068g0064 a0001c0001t0069g0096 a0001c0001t0070g0081 a0001c0001t0071g0067 a0001c0001t0072g0066 a0001c0001t0073g0053 a0001c0001t0074g0098 a0001c0001t0075g0044 a0001c0001t0077g0065 a0001c0001t0078g0093 a0001c0001t0079g0052 a0001c0001t0083g0057 a0001c0001t0085g0059 a0001c0001t0086g0078 a0001c0001t0087g0088 a0001c0001t0088g0054 a0001c0001t0089g0050 a0001c0001t0090g0084 a0001c0001t0091g0102 a0002c0002t0004g0027 a0002c0002t0004g0039 a0002c0002t0007g0048 a0002c0002t0007g0070 a0002c0002t0009g0001 a0003c0003t0043g0041	89	102	0.8726	36	c.424 others(55): Show c.424+30442_424+30443insACAGAATATGTTAAAAATAAACTTTT TTTTTAAACA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	4/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14439310	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0043 a0003c0003t0043	a0003c0003t0043g0041 a0003c0003t0043g0041	1	102	0.0098	36	c.235 others(57): Show c.235-115107_235-115106insATATATATATATATATATATATAT ATATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14645464	T T	TTATATAT others(29): Show TTATATATATATATTTATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0049 a0001c0001t0061g0049	1	102	0.0098	36	c.40- others(53): Show c.40-90539_40-90538insTATAAATATATATATATATATAAATATA TATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14645478	T T	TTATATAT others(29): Show TTATATATATATATATTTATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0060 a0001c0001t0008g0061	2	102	0.0196	36	c.40- others(53): Show c.40-90553_40-90552insTAAATATATATATATATATAAATATATA TATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14645480	A A	ATATATAT others(29): Show ATATATATATATATATATTTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0052 a0001c0001t0079g0052	1	102	0.0098	36	c.40- others(53): Show c.40-90555_40-90554insAATATATATATATATATAAATATATATA TATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14786041	A A	AAGGGGAT others(29): Show AAGGGGATATATCCCCTTTAAAAGATAGAGATATATC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG01257.hp1 others(12): Show HG00642.hp2 HG01243.hp2 HG01257.hp1 HG02109.hp2 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG03139.hp2 HG03195.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 others(12): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0038 a0001c0001t0050 a0001c0001t0054 a0001c0001t0062 a0001c0001t0064 a0001c0001t0075 a0001c0001t0077 a0001c0001t0088 a0002c0002t0009 a0003c0003t0043	a0001c0001t0011g0042 a0001c0001t0014g0024 a0001c0001t0018g0037 others(12): Show a0001c0001t0011g0042 a0001c0001t0014g0024 a0001c0001t0018g0037 a0001c0001t0020g0025 a0001c0001t0021g0015 a0001c0001t0038g0023 a0001c0001t0050g0045 a0001c0001t0054g0058 a0001c0001t0062g0082 a0001c0001t0064g0069 a0001c0001t0075g0044 a0001c0001t0077g0065 a0001c0001t0088g0054 a0002c0002t0009g0001 a0003c0003t0043g0041	15	102	0.1471	36	c.40- others(55): Show c.40-231116_40-231115insGATATATCTCTATCTTTTAAAGGGGA TATATCCCCT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	302	0.0033	36	c.75- others(51): Show c.75-2165_75-2164insAGAAAGAAAGAAAGAAAGGAGGGAGGGAGG GAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGGAGG others(29): Show AAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19002.hp2 HG02165.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0057 a0001c0004t0001g0058 a0001c0001t0002g0057 a0001c0004t0001g0058	2	302	0.0066	36	c.75- others(51): Show c.75-2165_75-2164insAGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAGGAAAG others(29): Show AAGGAAAGAAAGAAGGAAAGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18972.hp2 NA19074.hp2 HG01074.hp2 NA18972.hp2 NA19074.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0001 a0001c0001t0032 a0007c0015t0001 a0001c0001t0001 a0001c0001t0032 a0007c0015t0001	a0001c0001t0001g0089 a0001c0001t0032g0098 a0007c0015t0001g0110 a0001c0001t0001g0089 a0001c0001t0032g0098 a0007c0015t0001g0110	3	302	0.0099	36	c.75- others(51): Show c.75-2163_75-2162insAAAGAAAGAAGGAAAGAAGGGAGGGAGGGA GGGAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660015	A A	AAAGAAAG others(29): Show AAAGAAAGACAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0156 a0002c0003t0034g0156	1	302	0.0033	36	c.460 others(51): Show c.460-498_460-497insAAGAAAGACAGGAAGGAAGGAAGGAAGGAA GGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660015	A A	AAGGAAAG others(29): Show AAGGAAAGAAAGAAAGAAAGAAAGACAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02132.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG02132.hp2 HG02683.hp2 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0057 a0002c0002t0003 a0002c0002t0057	a0002c0002t0003g0248 a0002c0002t0003g0273 a0002c0002t0003g0274 others(2): Show a0002c0002t0003g0248 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0290 a0002c0002t0057g0286	5	302	0.0166	36	c.460 others(51): Show c.460-498_460-497insAGGAAAGAAAGAAAGAAAGAAAGACAGGAA GGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0185 a0001c0001t0001g0186	2	250	0.0080	36	c.286 others(55): Show c.286-25018_286-24983dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(29): Show GTATATATATATATATGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02155.hp2 HG03834.hp2 others(4): Show HG00735.hp2 HG02155.hp2 HG03834.hp2 NA18948.hp2 NA18969.hp1 NA18995.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0002t0003 a0001c0001t0003 a0001c0001t0012 a0001c0002t0003	a0001c0001t0003g0210 a0001c0001t0003g0225 a0001c0001t0003g0228 others(4): Show a0001c0001t0003g0210 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0237 a0001c0001t0012g0213 a0001c0002t0003g0234	7	312	0.0224	36	c.-58 others(57): Show c.-589+15189_-589+15190insTATATATATATATATATACACATA TATATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGO2_chr2_200521207_200589096	200578150	C C	CTATAGAT others(29): Show CTATAGATATAGATATAGATATAGATATAGATATAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(41): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG01099.hp1 HG01192.hp2 HG01884.hp2 HG02056.hp1 HG02129.hp1 HG02486.hp2 HG02523.hp2 HG02970.hp1 HG03139.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG04228.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18981.hp1 NA18984.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA19004.hp1 NA19010.hp1 NA19057.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp2 NA19088.hp1 NA19091.hp2 NA20300.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0010c0015	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0011t0001 a0010c0015t0006	a0001c0001t0001g0049 a0001c0001t0001g0176 a0001c0001t0001g0180 others(38): Show a0001c0001t0001g0049 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0002t0001g0011 a0001c0002t0001g0045 a0001c0002t0001g0284 a0001c0002t0001g0289 a0001c0002t0001g0296 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0311 a0001c0002t0001g0318 a0001c0004t0001g0064 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0011t0001g0230 a0001c0011t0001g0241 a0010c0015t0006g0047	44	384	0.1146	36	c.378 others(55): Show c.3782+2723_3782+2724insGATATAGATATAGATATAGATATAGA TATAGATATA	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSM1_chr22_24801211_24932578	24900055	C C	CCTTCTGT others(29): Show CCTTCTGTGCGTGATTTGGAGGGCAGTGGCGCAATCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0302 a0003c0003t0001g0302	1	338	0.0030	36	c.261 others(55): Show c.2610+1499_2610+1534dupTCTGTGCGTGATTTGGAGGGCAGTGG CGCAATCACT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24900340	C C	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	338	0.0030	36	c.261 others(55): Show c.2611-1460_2611-1425dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02004.hp2 HG02135.hp2 HG01361.hp1 HG02004.hp2 HG02135.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0004 a0001c0001t0001 a0001c0001t0007 a0002c0002t0004	a0001c0001t0001g0165 a0001c0001t0007g0164 a0002c0002t0004g0166 a0001c0001t0001g0165 a0001c0001t0007g0164 a0002c0002t0004g0166	3	422	0.0071	36	c.57+ others(51): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1A_chrX_124341563_124378160	124375202	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	318	0.0031	36	c.38 others(47): Show c.3811_*3812insATATATATATATATATATATATATATATATATAC AC	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2043		chrX	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	424	0.0024	36	c.-44 others(47): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAGAAAAA others(29): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02630.hp2 NA18981.hp1 others(1): Show HG01978.hp1 HG02630.hp2 NA18981.hp1 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0035 a0001c0002t0002g0122 others(1): Show a0001c0002t0002g0001 a0001c0002t0002g0035 a0001c0002t0002g0122 a0001c0002t0002g0129	4	424	0.0094	36	c.-44 others(47): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH3BGR_chr21_39446970_39520504	39499255	C C	CATCTATC others(29): Show CATCTATCTATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19004.hp1 HG02074.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0065 a0001c0001t0001g0066	2	302	0.0066	36	c.313 others(51): Show c.313-564_313-563insATCTATCTATCTATCTATCTATCTATCTAT CTATCT	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BP5L_chr1_248805446_248830915	248822677	T T	TCTCCCTC others(29): Show TCTCCCTCTCCTCCCTCTTCTCCGCCTCTCTCTTTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	412	0.0024	36	c.183 others(53): Show c.183+2075_183+2076insGGAAAGAGAGAGGCGGAGAAGAGGGAGG AGAGGGAG	SH3BP5L	ENSG00000175137.11	transcript	ENST00000366472.6	protein_coding	2/6			chr1	TogoVar
SH3D19_chr4_151115281_151330605	151256013	G G	GGGGAGAG others(29): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19086.hp2 NA18983.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0251 a0001c0001t0001g0092 a0001c0001t0001g0251	2	282	0.0071	36	c.113 others(55): Show c.113-29963_113-29928dupTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3GL3_chr15_83442341_83623743	83460068	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTGCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19043.hp2 HG02486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0178 a0001c0001t0002g0193 a0001c0001t0001g0178 a0001c0001t0002g0193	2	324	0.0062	36	c.45+ others(53): Show c.45+12514_45+12515insGCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SH3GLB2_chr9_129002036_129033331	129025610	G G	GAGATGGA others(29): Show GAGATGGAAGGAAGGAAGGAAGGAAGGTAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	436	0.0023	36	c.63+ others(51): Show c.63+2481_63+2482insTCCTTCCTTACCTTCCTTCCTTCCTTCCTT CCATCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025611	G G	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(44): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp2 HG02293.hp2 HG02683.hp2 HG02895.hp1 HG02965.hp2 HG03130.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18959.hp2 NA18962.hp2 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18984.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19067.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0022 a0001c0002t0002 a0001c0002t0012 a0002c0003t0003	a0001c0001t0002g0017 a0001c0001t0002g0078 a0001c0001t0002g0085 others(40): Show a0001c0001t0002g0017 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0094 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0346 a0001c0001t0008g0285 a0001c0001t0009g0349 a0001c0001t0009g0350 a0001c0001t0022g0129 a0001c0002t0002g0010 a0001c0002t0002g0016 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0106 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0012g0083 a0001c0002t0012g0084 a0002c0003t0003g0335	47	436	0.1078	36	c.63+ others(51): Show c.63+2480_63+2481insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025623	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01261.hp2 others(3): Show HG01167.hp2 HG01169.hp2 HG01261.hp2 HG02257.hp1 HG03688.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 others(3): Show a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048	6	436	0.0138	36	c.63+ others(51): Show c.63+2468_63+2469insGCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02922.hp2 HG01106.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0052 a0001c0003t0001g0051 a0001c0001t0001g0052 a0001c0003t0001g0051	2	204	0.0098	36	c.4+1 others(51): Show c.4+13238_4+13239insATATATATATATATATATATATATATTTTT TTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18942.hp1 NA19080.hp2 HG00673.hp2 NA18942.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0021 a0001c0002t0002 a0002c0006t0056 a0001c0001t0021 a0001c0002t0002 a0002c0006t0056	a0001c0001t0021g0206 a0001c0002t0002g0026 a0002c0006t0056g0047 a0001c0001t0021g0206 a0001c0002t0002g0026 a0002c0006t0056g0047	3	250	0.0120	36	c.73- others(49): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(29): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG02165.hp1 others(3): Show HG00735.hp1 HG01167.hp1 HG02165.hp1 NA18964.hp1 NA19002.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0054 a0001c0001t0002g0098 a0001c0001t0002g0113 others(3): Show a0001c0001t0001g0054 a0001c0001t0002g0098 a0001c0001t0002g0113 a0001c0001t0003g0082 a0001c0001t0011g0119 a0001c0001t0013g0053	6	172	0.0349	36	c.214 others(55): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC1_chr4_8194290_8246103	8211287	C C	CCCGTCCT others(29): Show CCCGTCCTGTTTTCTCCCTTCTCCCTCCCTCTCCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG03195.hp2 others(1): Show HG02055.hp1 HG02257.hp2 HG03195.hp2 HG03579.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0003c0010 a0007c0019 a0001c0002 a0003c0010 a0007c0019	a0001c0002t0001 a0003c0010t0001 a0007c0019t0001 a0001c0002t0001 a0003c0010t0001 a0007c0019t0001	a0001c0002t0001g0097 a0003c0010t0001g0096 a0007c0019t0001g0098 others(1): Show a0001c0002t0001g0097 a0003c0010t0001g0096 a0007c0019t0001g0098 a0007c0019t0001g0099	4	374	0.0107	36	c.248 others(53): Show c.248-1412_248-1411insGTCCTGTTTTCTCCCTTCTCCCTCCCTC TCCCCACC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

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