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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Results per page.

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
SHCBP1L_chr1_182894865_182958166	182924696	GAAAGGAA others(14): Show GAAAGGAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03209.hp1 NA19030.hp2 HG03017.hp2 HG03209.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0002c0002t0001g0028 a0001c0001t0001g0086 a0001c0001t0001g0087 a0002c0002t0001g0028	3	302	0.0099	-21	c.118 others(40): Show c.1182+4930_1182+4950delTCTTTCTTTCTTTCTTCCTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952174	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	302	0.0033	-21	c.405 others(36): Show c.405+534_405+554delATATTTTTTTTTTTTTTTTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952188	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp1 HG03486.hp1 HG03516.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0053 a0003c0008t0001g0054 a0003c0008t0001g0053 a0003c0008t0001g0054	2	302	0.0066	-21	c.405 others(36): Show c.405+520_405+540delATATATATATATATATATTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952190	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	302	0.0033	-21	c.405 others(36): Show c.405+518_405+538delATATATATATATATATATATT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHFL_chr19_10081317_10098243	10088953	TATAATAA others(14): Show TATAATAATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	444	0.0023	-21	c.196 others(36): Show c.196-685_196-665delATAATAATAATAATAATAATA		SHFL	ENSG00000130813.18	transcript	ENST00000253110.16	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
SHF_chr15_45162214_45192966	45170758	TTTCCTGC others(14): Show TTTCCTGCCTCAGCCTCCCGAG	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0052 a0003c0008t0002g0052	1	398	0.0025	-21	c.128 others(40): Show c.1280+1104_1280+1124delCTCGGGAGGCTGAGGCAGGAA		SHF	ENSG00000138606.20	transcript	ENST00000690270.1	protein_coding	6/6						chr15	TogoVar
SHISA5_chr3_48462876_48509174	48492150	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	290	0.0035	-21	c.233 others(38): Show c.233+8966_233+8986delTTTTTTTTTTTTTTTTTTTTT		SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5						chr3	TogoVar
SHISA6_chr17_11236213_11569063	11521595	ACAACATA others(14): Show ACAACATAGTGAGACCCCAGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(86): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00639.hp1 HG00738.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18970.hp1 NA18970.hp2 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0023 a0001c0002t0025 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0003t0035	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 others(86): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0004g0014 a0001c0001t0004g0031 a0001c0001t0004g0042 a0001c0001t0004g0054 a0001c0001t0004g0058 a0001c0001t0004g0082 a0001c0001t0004g0104 a0001c0001t0004g0112 a0001c0001t0004g0130 a0001c0001t0004g0161 a0001c0001t0004g0168 a0001c0001t0004g0187 a0001c0001t0006g0034 a0001c0001t0006g0162 a0001c0001t0006g0170 a0001c0001t0006g0181 a0001c0001t0006g0186 a0001c0001t0007g0002 a0001c0001t0007g0072 a0001c0001t0007g0119 a0001c0001t0008g0049 a0001c0001t0008g0087 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0010g0064 a0001c0001t0010g0159 a0001c0001t0010g0182 a0001c0001t0011g0068 a0001c0001t0020g0078 a0001c0001t0020g0128 a0001c0001t0022g0070 a0001c0001t0024g0036 a0001c0001t0028g0143 a0001c0001t0031g0116 a0001c0001t0032g0037 a0001c0001t0050g0160 a0001c0002t0001g0095 a0001c0002t0001g0101 a0001c0002t0001g0140 a0001c0002t0001g0174 a0001c0002t0002g0090 a0001c0002t0003g0094 a0001c0002t0004g0092 a0001c0002t0006g0097 a0001c0002t0007g0018 a0001c0002t0007g0103 a0001c0002t0010g0096 a0001c0002t0010g0099 a0001c0002t0011g0192 a0001c0002t0023g0001 a0001c0002t0025g0189 a0001c0003t0004g0139 a0001c0003t0007g0106 a0001c0003t0011g0108 a0001c0003t0011g0121 a0001c0003t0035g0180	89	192	0.4635	-21	c.896 others(40): Show c.896-30282_896-30262delGGGCAACATAGTGAGACCCCA		SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	12968189	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	214	0.0047	-21	c.691 others(40): Show c.691+51391_691+51411delAAAAAAAAAAAAAAAAAAAAA		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13112443	TGGTTTTA others(14): Show TGGTTTTATGGAGCTTTACCAA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01261.hp1 HG01975.hp2 others(17): Show HG01258.hp2 HG01261.hp1 HG01975.hp2 HG02155.hp2 HG02257.hp1 HG02451.hp1 HG02698.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03710.hp1 HG03831.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0040 a0001c0001t0048 a0001c0001t0051 a0001c0001t0058 a0001c0002t0006 a0001c0002t0009 a0001c0002t0062 a0001c0003t0008 a0002c0005t0006	a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0002g0012 others(17): Show a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0002g0012 a0001c0001t0004g0080 a0001c0001t0006g0042 a0001c0001t0006g0079 a0001c0001t0006g0083 a0001c0001t0012g0145 a0001c0001t0016g0212 a0001c0001t0021g0061 a0001c0001t0040g0113 a0001c0001t0048g0057 a0001c0001t0051g0028 a0001c0001t0058g0040 a0001c0002t0006g0116 a0001c0002t0006g0185 a0001c0002t0009g0184 a0001c0002t0062g0182 a0001c0003t0008g0002 a0002c0005t0006g0098	20	214	0.0935	-21	c.692 others(40): Show c.692-90941_692-90921delGAGCTTTACCAAGGTTTTATG		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44285538	TGGGGCCC others(14): Show TGGGGCCCGCTGACCCGGCCGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0004 a0002c0029t0004	a0002c0029t0004g0187 a0002c0029t0004g0187	1	380	0.0026	-21	c.468 others(28): Show c.468_488delTCGGCCGGGTCAGCGGGCCCC	p.Arg others(13): Show p.Arg157_Pro163del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/5	721/6853	468/600	156/199			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5764137	AAAATATA others(14): Show AAAATATATATATATTTATATT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG03942.hp2 others(1): Show HG02809.hp2 HG02970.hp1 HG03942.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0003 a0002c0003t0004 a0002c0004t0002 a0002c0003t0003 a0002c0003t0004 a0002c0004t0002	a0002c0003t0003g0298 a0002c0003t0004g0178 a0002c0004t0002g0027 others(1): Show a0002c0003t0003g0298 a0002c0003t0004g0178 a0002c0004t0002g0027 a0002c0004t0002g0076	4	328	0.0122	-21	c.-4- others(36): Show c.-4-8724_-4-8704delAAATATATATATATTTATATT		SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2						chr20	TogoVar
SHLD1_chr20_5745401_5869395	5764138	AAATATAT others(14): Show AAATATATATATATTTATATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(60): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01358.hp1 HG01361.hp1 HG01884.hp1 HG02080.hp1 HG02129.hp2 HG02451.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp2 NA18975.hp1 NA19009.hp1 NA19063.hp1 NA19063.hp2 NA19080.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0004t0001 a0002c0004t0002 a0002c0007t0002	a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0087 others(60): Show a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0294 a0001c0001t0001g0303 a0001c0001t0003g0221 a0001c0001t0004g0018 a0001c0001t0004g0189 a0001c0001t0004g0272 a0001c0001t0004g0304 a0001c0002t0001g0169 a0001c0002t0001g0187 a0001c0002t0002g0030 a0001c0002t0002g0047 a0001c0002t0002g0054 a0001c0002t0002g0170 a0001c0002t0002g0181 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0220 a0001c0002t0005g0015 a0001c0002t0011g0013 a0002c0003t0001g0016 a0002c0003t0001g0026 a0002c0003t0001g0094 a0002c0003t0001g0097 a0002c0003t0001g0139 a0002c0003t0001g0143 a0002c0003t0001g0146 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0190 a0002c0003t0001g0245 a0002c0003t0001g0312 a0002c0003t0003g0048 a0002c0003t0003g0049 a0002c0003t0003g0096 a0002c0003t0003g0102 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0168 a0002c0003t0003g0171 a0002c0003t0003g0289 a0002c0003t0004g0144 a0002c0003t0004g0305 a0002c0004t0001g0032 a0002c0004t0001g0138 a0002c0004t0002g0017 a0002c0004t0002g0041 a0002c0004t0002g0055 a0002c0004t0002g0077 a0002c0004t0002g0142 a0002c0004t0002g0182 a0002c0004t0002g0183 a0002c0004t0002g0222 a0002c0004t0002g0262 a0002c0004t0002g0271 a0002c0004t0002g0276 a0002c0004t0002g0277 a0002c0007t0002g0192	63	328	0.1921	-21	c.-4- others(36): Show c.-4-8722_-4-8702delATATATATATATTTATATTTA		SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5764140	ATATATAT others(14): Show ATATATATATATTTATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02818.hp2 HG03139.hp2 HG02056.hp1 HG02818.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0004 a0002c0004t0005 a0002c0003t0001 a0002c0003t0004 a0002c0004t0005	a0002c0003t0001g0295 a0002c0003t0004g0186 a0002c0004t0005g0265 a0002c0003t0001g0295 a0002c0003t0004g0186 a0002c0004t0005g0265	3	328	0.0092	-21	c.-4- others(36): Show c.-4-8721_-4-8701delTATATATATATTTATATTTAT		SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2						chr20	TogoVar
SHLD1_chr20_5745401_5869395	5785640	ACAAAAAT others(14): Show ACAAAAATTAGCTGGGCATGGT	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	328	0.0031	-21	c.178 others(40): Show c.178+12598_178+12618delCAAAAATTAGCTGGGCATGGT		SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2						chr20	TogoVar
SHMT1_chr17_18322873_18368550	18337577	CCCACGGT others(14): Show CCCACGGTCTCCCTCTCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01943.hp1 HG01975.hp1 others(33): Show HG00438.hp1 HG01943.hp1 HG01975.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp2 HG02273.hp1 HG02698.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18963.hp2 NA18970.hp1 NA18973.hp1 NA18988.hp2 NA18991.hp1 NA18997.hp2 NA18998.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19087.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0064 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169	36	220	0.1636	-21	c.815 others(38): Show c.815-1923_815-1903delAAAGGGAGAGGGAGACCGTGG		SHMT1	ENSG00000176974.22	transcript	ENST00000316694.8	protein_coding	7/11						chr17	TogoVar
SHOX2_chr3_158090905_158111420	158105797	TCCTCCGC others(14): Show TCCTCCGCCTCCTCCGCCGCCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18948.hp1 NA18948.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0122 a0005c0005t0122	a0005c0005t0122g0072 a0005c0005t0122g0072	1	380	0.0026	-21	c.207 others(28): Show c.207_227delCGGCGGCGGAGGAGGCGGAGG	p.Gly others(11): Show p.Gly70_Gly76del	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	1/5	623/3478	207/960	69/319			chr3	TogoVar
SHOX_chrX_625791_656584	649022	TTTCTTTC others(14): Show TTTCTTTCTTTCTTTTTCTTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(52): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02135.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02809.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03540.hp2 HG03834.hp2 HG04184.hp1 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18975.hp2 NA18981.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19077.hp1 NA19077.hp2 NA19089.hp1 NA19090.hp2 NA21309.hp2	a0000 a0001 a0004 a0000 a0001 a0004	a0000c0002 a0001c0001 a0004c0004 a0000c0002 a0001c0001 a0004c0004	a0000c0002t0077 a0000c0002t0085 a0000c0002t0097 others(46): Show a0000c0002t0077 a0000c0002t0085 a0000c0002t0097 a0001c0001t0001 a0001c0001t0006 a0001c0001t0023 a0001c0001t0055 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0133 a0001c0001t0149 a0001c0001t0150 a0001c0001t0154 a0001c0001t0187 a0001c0001t0188 a0001c0001t0189 a0001c0001t0194 a0001c0001t0195 a0001c0001t0198 a0001c0001t0199 a0004c0004t0076	a0000c0002t0077g0031 a0000c0002t0085g0045 a0000c0002t0097g0194 others(51): Show a0000c0002t0077g0031 a0000c0002t0085g0045 a0000c0002t0097g0194 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0006g0010 a0001c0001t0006g0197 a0001c0001t0023g0047 a0001c0001t0055g0026 a0001c0001t0062g0044 a0001c0001t0063g0208 a0001c0001t0064g0170 a0001c0001t0065g0057 a0001c0001t0066g0173 a0001c0001t0067g0136 a0001c0001t0068g0039 a0001c0001t0069g0102 a0001c0001t0070g0034 a0001c0001t0071g0178 a0001c0001t0072g0114 a0001c0001t0073g0201 a0001c0001t0074g0209 a0001c0001t0075g0141 a0001c0001t0078g0105 a0001c0001t0079g0027 a0001c0001t0080g0176 a0001c0001t0081g0151 a0001c0001t0082g0007 a0001c0001t0083g0106 a0001c0001t0084g0048 a0001c0001t0086g0202 a0001c0001t0087g0128 a0001c0001t0088g0175 a0001c0001t0098g0206 a0001c0001t0099g0068 a0001c0001t0100g0133 a0001c0001t0101g0196 a0001c0001t0102g0100 a0001c0001t0103g0095 a0001c0001t0133g0188 a0001c0001t0149g0134 a0001c0001t0150g0163 a0001c0001t0154g0036 a0001c0001t0187g0071 a0001c0001t0188g0122 a0001c0001t0189g0067 a0001c0001t0194g0205 a0001c0001t0195g0127 a0001c0001t0198g0018 a0001c0001t0199g0017 a0004c0004t0076g0012	55	220	0.2500	-21	c.44 others(32): Show c.4400_*4420delTTTCTTTCTTCTTTCTTTCTT		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5				4400	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHPRH_chr6_145879807_145969358	145928394	AAAAGGTA others(14): Show AAAAGGTACAAGATGTTCTAGC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01884.hp1 others(14): Show HG01081.hp1 HG01123.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03579.hp1 NA18906.hp2 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0007 a0002c0004t0003g0043 a0002c0004t0003g0262 others(10): Show a0002c0004t0003g0007 a0002c0004t0003g0043 a0002c0004t0003g0262 a0002c0004t0003g0263 a0002c0004t0003g0264 a0002c0004t0003g0265 a0002c0004t0003g0266 a0002c0004t0003g0267 a0002c0004t0003g0268 a0002c0004t0003g0269 a0002c0004t0003g0270 a0002c0004t0003g0271 a0002c0004t0003g0272	17	354	0.0480	-21	c.311 others(40): Show c.3113-1138_3113-1118delGCTAGAACATCTTGTACCTTT		SHPRH	ENSG00000146414.17	transcript	ENST00000275233.12	protein_coding	14/29						chr6	TogoVar
SHROOM2_chrX_9781429_9954443	9822531	TCTGGTGC others(14): Show TCTGGTGCAGGGATGGAGAATC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	256	0.0039	-21	c.165 others(40): Show c.165+35829_165+35849delAGGGATGGAGAATCCTGGTGC		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9881887	CTTCTTAA others(14): Show CTTCTTAACTCTTCTAGTACCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	256	0.0039	-21	c.317 others(38): Show c.317+8086_317+8106delTCTTAACTCTTCTAGTACCTT		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9947553	GTGGTTGG others(14): Show GTGGTTGGGTTCACTCATTCTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0028 a0028	a0028c0071 a0028c0071	a0028c0071t0015 a0028c0071t0015	a0028c0071t0015g0082 a0028c0071t0015g0082	1	256	0.0039	-21	c.61 others(30): Show c.617_*637delTGGTTGGGTTCACTCATTCTC		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	10/10				617		chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76735855	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01981.hp2 HG02717.hp1 others(5): Show HG01952.hp2 HG01981.hp2 HG02717.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03491.hp2 NA18974.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0011c0012t0006	a0001c0001t0001g0174 a0001c0001t0002g0026 a0001c0001t0002g0042 others(5): Show a0001c0001t0001g0174 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0140 a0001c0001t0002g0153 a0001c0001t0020g0067 a0011c0012t0006g0043 a0011c0012t0006g0046	8	218	0.0367	-21	c.588 others(38): Show c.588-2904_588-2884delAAAAAAAAAAAAATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735857	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG01175.hp2 others(20): Show HG00423.hp2 HG00673.hp2 HG01175.hp2 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02040.hp1 HG02074.hp1 HG03490.hp1 NA18946.hp2 NA18953.hp1 NA18962.hp1 NA18967.hp2 NA18971.hp2 NA18979.hp2 NA18989.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19066.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0019 a0015c0032 a0001c0001 a0001c0019 a0015c0032	a0001c0001t0002 a0001c0001t0008 a0001c0001t0021 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0021 a0001c0001t0022 a0001c0019t0003 a0015c0032t0008	a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0023 others(20): Show a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0124 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0181 a0001c0001t0008g0198 a0001c0001t0008g0203 a0001c0001t0008g0210 a0001c0001t0021g0048 a0001c0001t0022g0106 a0001c0019t0003g0211 a0015c0032t0008g0207	23	218	0.1055	-21	c.588 others(38): Show c.588-2902_588-2882delAAAAAAAAAAATATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735859	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG02083.hp1 others(4): Show HG00099.hp2 HG00140.hp1 HG02083.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 NA18747.hp1	a0001 a0015 a0026 a0001 a0015 a0026	a0001c0001 a0015c0031 a0026c0039 a0001c0001 a0015c0031 a0026c0039	a0001c0001t0002 a0001c0001t0033 a0015c0031t0001 others(1): Show a0001c0001t0002 a0001c0001t0033 a0015c0031t0001 a0026c0039t0002	a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0038 others(4): Show a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0038 a0001c0001t0002g0165 a0001c0001t0033g0079 a0015c0031t0001g0081 a0026c0039t0002g0065	7	218	0.0321	-21	c.588 others(38): Show c.588-2900_588-2880delAAAAAAAAATATATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18999.hp1 NA18984.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0198 a0001c0001t0004g0011 a0001c0001t0003g0198 a0001c0001t0004g0011	2	292	0.0069	-21	c.173 others(38): Show c.173-2826_173-2806delAAAAAAAAAAAAAAAAAAAAA		SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16						chr10	TogoVar
SIGIRR_chr11_400716_419999	401765	CCCCCGCC others(14): Show CCCCCGCCCCGCTCACCCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA19043.hp2 NA18964.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0113 a0001c0006t0001g0226 a0001c0001t0001g0113 a0001c0006t0001g0226	2	242	0.0083	-21	c.41 others(32): Show c.4110_*4130delTCGGGGGTGAGCGGGGCGGGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3950		chr11	TogoVar
SIGIRR_chr11_400716_419999	402639	CCCCGACC others(14): Show CCCCGACCCCGCTCACCCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0109 a0001c0006t0001g0109	1	242	0.0041	-21	c.32 others(32): Show c.3236_*3256delTCGGGGGTGAGCGGGGTCGGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3076		chr11	TogoVar
SIGLEC8_chr19_51445997_51463454	51459526	GATGATGA others(14): Show GATGATGATGATTATTATTATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01891.hp2 HG02630.hp2 others(2): Show HG01346.hp1 HG01891.hp2 HG02630.hp2 HG03486.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	5	452	0.0111	-21	c.-11 others(32): Show c.-1160_-1140delAATAATAATAATCATCATCAT		SIGLEC8	ENSG00000105366.15	transcript	ENST00000321424.7	protein_coding					1073		chr19	TogoVar
SIGLEC8_chr19_51445997_51463454	51459529	GATGATGA others(14): Show GATGATGATTATTATTATTATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03139.hp2 HG03195.hp1 HG01109.hp1 HG03139.hp2 HG03195.hp1	a0002 a0004 a0002 a0004	a0002c0008 a0004c0004 a0002c0008 a0004c0004	a0002c0008t0003 a0004c0004t0003 a0002c0008t0003 a0004c0004t0003	a0002c0008t0003g0029 a0004c0004t0003g0052 a0002c0008t0003g0029 a0004c0004t0003g0052	3	452	0.0066	-21	c.-11 others(32): Show c.-1163_-1143delAATAATAATAATAATCATCAT		SIGLEC8	ENSG00000105366.15	transcript	ENST00000321424.7	protein_coding					1076		chr19	TogoVar
SIK2_chr11_111597449_111735855	111692350	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02723.hp2 HG03098.hp2 others(2): Show HG01952.hp2 HG02723.hp2 HG03098.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 others(2): Show a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151	5	198	0.0253	-21	c.478 others(38): Show c.478+4206_478+4226delAAAAAAAAAAAAAAAAAAAAA		SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	117056578	TATAGATA others(14): Show TATAGATATAGATATAGATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	366	0.0027	-21	c.273 others(40): Show c.273+41544_273+41564delTATATCTATATCTATATCTAT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIM1_chr6_100380009_100469921	100412616	GAAAGAAG others(14): Show GAAAGAAGGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	320	0.0031	-21	c.116 others(40): Show c.1167+8153_1167+8173delTCTTTCTTTCTTTCCTTCTTT		SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11						chr6	TogoVar
SIPA1L2_chr1_232392965_232635133	232409730	CCAGCTGA others(14): Show CCAGCTGAGCTGCAGCTGCATG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02572.hp2 others(7): Show HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0055 others(1): Show a0001c0001 a0001c0003 a0001c0055 a0008c0014	a0001c0001t0010 a0001c0003t0009 a0001c0003t0010 others(4): Show a0001c0001t0010 a0001c0003t0009 a0001c0003t0010 a0001c0003t0025 a0001c0055t0009 a0008c0014t0013 a0008c0014t0016	a0001c0001t0010g0285 a0001c0003t0009g0165 a0001c0003t0009g0166 others(7): Show a0001c0001t0010g0285 a0001c0003t0009g0165 a0001c0003t0009g0166 a0001c0003t0010g0277 a0001c0003t0010g0282 a0001c0003t0025g0286 a0001c0055t0009g0169 a0008c0014t0013g0274 a0008c0014t0013g0279 a0008c0014t0016g0168	10	292	0.0343	-21	c.476 others(40): Show c.4763-5573_4763-5553delCATGCAGCTGCAGCTCAGCTG		SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	19/22						chr1	TogoVar
SIX5_chr19_45759785_45774252	45770204	CCAGCAGC others(14): Show CCAGCAGCAGCAGCAGCAGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(78): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp2 HG03669.hp2 HG03688.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18944.hp1 NA18952.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18971.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19082.hp1 NA19083.hp2 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0006 a0003c0003 others(2): Show a0001c0001 a0001c0006 a0003c0003 a0004c0004 a0004c0007	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0006t0001 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0022 a0004c0007t0006	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0011g0021 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0011g0021 a0001c0001t0015g0026 a0001c0006t0001g0011 a0003c0003t0001g0003 a0004c0004t0001g0008 a0004c0004t0002g0005 a0004c0004t0022g0045 a0004c0007t0006g0012	81	414	0.1957	-21	c.-13 others(32): Show c.-1381_-1361delCTGCTGCTGCTGCTGCTGCTG		SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding					953		chr19	TogoVar
SI_chr3_164973898_165083496	165000079	CTATATGA others(14): Show CTATATGAAAATGTATTTTTGG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	266	0.0038	-21	c.440 others(40): Show c.4407-1427_4407-1407delCCAAAAATACATTTTCATATA		SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	37/47						chr3	TogoVar
SKAP1_chr17_48128442_48435214	48405429	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01358.hp2 HG02056.hp1 others(14): Show HG00423.hp1 HG01358.hp2 HG02056.hp1 HG02129.hp2 HG02683.hp2 HG03688.hp1 NA18939.hp1 NA18946.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18966.hp1 NA18975.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0003t0001g0252 others(14): Show a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0003t0001g0252 a0002c0002t0001g0243 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0258 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0273 a0002c0002t0001g0281 a0002c0002t0001g0287 a0002c0002t0005g0275	17	292	0.0582	-21	c.47- others(36): Show c.47-8665_47-8645delAGAAAGAAAGAAAGAAAGAAA		SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12						chr17	TogoVar
SKIC3_chr5_95458894_95559977	95492636	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAGAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG01257.hp1 others(13): Show HG00733.hp2 HG01243.hp1 HG01257.hp1 HG01515.hp1 HG01517.hp1 HG02055.hp1 HG02074.hp1 HG02451.hp2 HG02723.hp1 HG03041.hp1 HG03453.hp2 HG03516.hp1 HG04184.hp1 NA18990.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0015 a0002c0002 others(1): Show a0001c0001 a0001c0015 a0002c0002 a0016c0022	a0001c0001t0001 a0001c0001t0004 a0001c0015t0012 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0015t0012 a0002c0002t0003 a0002c0002t0010 a0016c0022t0003	a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0296 others(13): Show a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0296 a0001c0001t0004g0031 a0001c0015t0012g0029 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0187 a0002c0002t0003g0197 a0002c0002t0003g0199 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0010g0191 a0016c0022t0003g0193	16	352	0.0455	-21	c.380 others(40): Show c.3803-1621_3803-1601delTTTTTCTTTTTTTTTTTTTTT		SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	36/42						chr5	TogoVar
SKI_chr1_2223319_2315213	2281251	AGAGATGC others(14): Show AGAGATGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04184.hp2 HG01099.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0301 a0001c0001t0009g0296 a0001c0001t0002g0301 a0001c0001t0009g0296	2	330	0.0061	-21	c.970 others(40): Show c.970-21725_970-21705delAGATGCCCGAGAAGACAGGCG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281338	AGAGATGC others(14): Show AGAGATGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03654.hp2 HG03704.hp1 others(1): Show HG01074.hp1 HG03654.hp2 HG03704.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0013 a0001c0001 a0003c0013	a0001c0001t0002 a0001c0001t0006 a0001c0001t0064 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0064 a0003c0013t0032	a0001c0001t0002g0081 a0001c0001t0006g0300 a0001c0001t0064g0311 others(1): Show a0001c0001t0002g0081 a0001c0001t0006g0300 a0001c0001t0064g0311 a0003c0013t0032g0178	4	330	0.0121	-21	c.970 others(40): Show c.970-21638_970-21618delAGATGCCCGAGAAGACAGGCG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282113	AGAGATGC others(14): Show AGAGATGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 HG02559.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0058 a0001c0001t0001 a0001c0001t0058	a0001c0001t0001g0271 a0001c0001t0058g0297 a0001c0001t0001g0271 a0001c0001t0058g0297	2	330	0.0061	-21	c.970 others(40): Show c.970-20863_970-20843delAGATGCCCGAGAAGACAGGCG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKP2_chr5_36147111_36189319	36162770	ACATACCC others(14): Show ACATACCCAAGACTGGGTAATT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02258.hp2 others(4): Show HG01109.hp2 HG01891.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp2 HG02896.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0041 a0001c0001t0006g0142 a0001c0001t0006g0143 others(3): Show a0001c0001t0006g0041 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0195 a0001c0001t0007g0128 a0001c0001t0007g0144	7	402	0.0174	-21	c.281 others(36): Show c.281-870_281-850delCCCAAGACTGGGTAATTCATA		SKP2	ENSG00000145604.17	transcript	ENST00000274255.11	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLAIN2_chr4_48336529_48431201	48373773	GCTTACAC others(14): Show GCTTACACCTGTAATCCCAGCA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0205 a0001c0002t0030g0205	1	348	0.0029	-21	c.538 others(38): Show c.538+3780_538+3800delACACCTGTAATCCCAGCACTT		SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLA_chr8_133031728_133107602	133055824	CCAGCAGC others(14): Show CCAGCAGCAGCAGCAGCAGCAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(140): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18993.hp2 NA18997.hp2 NA19006.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19062.hp1 NA19079.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0004t0002 a0001c0004t0007 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0012 a0002c0002t0017 a0002c0002t0023	a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0139 others(138): Show a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0337 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0271 a0001c0001t0002g0319 a0001c0001t0002g0324 a0001c0001t0003g0099 a0001c0001t0003g0136 a0001c0001t0003g0208 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0004g0096 a0001c0001t0004g0102 a0001c0001t0004g0258 a0001c0001t0004g0288 a0001c0001t0004g0295 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0307 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0318 a0001c0001t0005g0098 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0219 a0001c0001t0005g0229 a0001c0001t0005g0244 a0001c0001t0005g0248 a0001c0001t0005g0302 a0001c0001t0005g0334 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0312 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0329 a0001c0001t0007g0088 a0001c0001t0007g0094 a0001c0001t0007g0104 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0287 a0001c0001t0007g0290 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0277 a0001c0001t0008g0293 a0001c0001t0008g0294 a0001c0001t0009g0001 a0001c0001t0009g0010 a0001c0001t0009g0215 a0001c0001t0011g0078 a0001c0001t0011g0270 a0001c0001t0011g0320 a0001c0001t0011g0321 a0001c0001t0012g0103 a0001c0001t0014g0297 a0001c0001t0015g0223 a0001c0001t0015g0228 a0001c0001t0018g0241 a0001c0001t0019g0253 a0001c0001t0021g0105 a0001c0001t0022g0289 a0001c0001t0025g0089 a0001c0001t0028g0009 a0001c0004t0002g0291 a0001c0004t0007g0090 a0002c0002t0002g0074 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0268 a0002c0002t0008g0083 a0002c0002t0009g0002 a0002c0002t0009g0012 a0002c0002t0012g0335 a0002c0002t0017g0011 a0002c0002t0017g0013 a0002c0002t0023g0336	143	344	0.4157	-21	c.61+ others(36): Show c.61+4255_61+4275delCTGCTGCTGCTGCTGCTGCTG		SLA	ENSG00000155926.14	transcript	ENST00000338087.10	protein_coding	3/8						chr8	TogoVar
SLC12A1_chr15_48201302_48309078	48220127	AAAGGTAG others(14): Show AAAGGTAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp1 HG02074.hp2 others(5): Show HG00438.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 NA18968.hp1 NA18995.hp1 NA18995.hp2 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0003c0005t0002	a0001c0001t0001g0171 a0001c0001t0002g0169 a0001c0001t0002g0172 others(5): Show a0001c0001t0001g0171 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0004g0192 a0001c0002t0001g0170 a0001c0002t0001g0191 a0001c0002t0002g0193 a0003c0005t0002g0168	8	266	0.0301	-21	c.421 others(36): Show c.421-505_421-485delAGGTAGATAGATAGATAGATA		SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48254610	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	266	0.0038	-21	c.194 others(40): Show c.1943-1200_1943-1180delAAAAAAAAAAAAAAAAAAAAC		SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	15/26						chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1045547	TGGGTAAG others(14): Show TGGGTAAGTGTGTGAATGAGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0001 a0001c0007t0012g0001	1	118	0.0085	-21	c.67 others(32): Show c.6792_*6812delGACTCATTCACACACTTACCC		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding					4836		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1080997	CAGAGAGA others(14): Show CAGAGAGAGAGACAGACAGACA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp1 others(32): Show HG00639.hp1 HG00639.hp2 HG00733.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01517.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02683.hp2 HG02698.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp1 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA18984.hp1 NA18984.hp2 NA19055.hp2 NA19074.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0013 a0001c0020 a0001c0035 a0002c0011 a0004c0027 a0006c0019	a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 others(13): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 a0001c0001t0023 a0001c0003t0003 a0001c0005t0002 a0001c0006t0001 a0001c0006t0011 a0001c0006t0021 a0001c0013t0003 a0001c0013t0007 a0001c0020t0001 a0001c0035t0001 a0002c0011t0002 a0004c0027t0004 a0006c0019t0009	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 others(32): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0007g0090 a0001c0001t0019g0035 a0001c0001t0023g0033 a0001c0003t0003g0071 a0001c0005t0002g0043 a0001c0005t0002g0044 a0001c0005t0002g0050 a0001c0006t0001g0048 a0001c0006t0011g0078 a0001c0006t0011g0079 a0001c0006t0021g0104 a0001c0013t0003g0046 a0001c0013t0003g0047 a0001c0013t0007g0101 a0001c0020t0001g0089 a0001c0035t0001g0054 a0002c0011t0002g0030 a0002c0011t0002g0031 a0002c0011t0002g0034 a0004c0027t0004g0029 a0006c0019t0009g0013	35	118	0.2966	-21	c.129 others(38): Show c.1297+559_1297+579delTGTCTGTCTGTCTCTCTCTCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	9/23						chr5	TogoVar
SLC14A2_chr18_45610476_45688688	45681044	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp1 HG02896.hp2 others(5): Show HG01109.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03516.hp1 HG03540.hp2 NA18906.hp1	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0024	a0002c0001 a0003c0005 a0008c0025 others(1): Show a0002c0001 a0003c0005 a0008c0025 a0024c0027	a0002c0001t0008 a0003c0005t0008 a0008c0025t0010 others(1): Show a0002c0001t0008 a0003c0005t0008 a0008c0025t0010 a0024c0027t0010	a0002c0001t0008g0035 a0002c0001t0008g0072 a0002c0001t0008g0217 others(5): Show a0002c0001t0008g0035 a0002c0001t0008g0072 a0002c0001t0008g0217 a0002c0001t0008g0247 a0002c0001t0008g0304 a0003c0005t0008g0285 a0008c0025t0010g0107 a0024c0027t0010g0091	8	402	0.0199	-21	c.256 others(40): Show c.2563-1258_2563-1238delTTTTTTTTTTTTTTTTTTTTT		SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC15A1_chr13_98678801_98757672	98718300	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01952.hp1 HG02148.hp2 HG00423.hp1 HG01952.hp1 HG02148.hp2	a0001 a0020 a0001 a0020	a0001c0002 a0020c0032 a0001c0002 a0020c0032	a0001c0002t0004 a0020c0032t0001 a0001c0002t0004 a0020c0032t0001	a0001c0002t0004g0191 a0001c0002t0004g0192 a0020c0032t0001g0309 a0001c0002t0004g0191 a0001c0002t0004g0192 a0020c0032t0001g0309	3	408	0.0074	-21	c.640 others(36): Show c.640+916_640+936delAAAAAAAAAAAAAAAAAAAAA		SLC15A1	ENSG00000088386.17	transcript	ENST00000376503.10	protein_coding	8/22						chr13	TogoVar

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