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
SHC2_chr19_411589_466033	418701	AGGGGACA others(16): Show AGGGGACAGGGAGTGACGGCTGGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02486.hp1 others(11): Show HG01109.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02970.hp1 HG02976.hp2 HG03225.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0013 a0002c0024 a0003c0008 a0005c0009 a0006c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0002t0002 a0001c0005t0015 a0001c0007t0002 a0001c0013t0005 a0002c0024t0003 a0003c0008t0005 a0005c0009t0005 a0005c0009t0014 a0006c0011t0005	a0001c0001t0002g0052 a0001c0001t0003g0050 a0001c0001t0011g0038 others(11): Show a0001c0001t0002g0052 a0001c0001t0003g0050 a0001c0001t0011g0038 a0001c0001t0013g0073 a0001c0002t0002g0046 a0001c0005t0015g0008 a0001c0007t0002g0080 a0001c0013t0005g0007 a0002c0024t0003g0188 a0003c0008t0005g0182 a0005c0009t0005g0048 a0005c0009t0014g0040 a0006c0011t0005g0059 a0006c0011t0005g0063	14	212	0.0660	-23	c.5+ others(36): Show c.5+199_*5+221delACCAGCCGTCACTCCCTGTCCCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	12/12						chr19	TogoVar
SHCBP1L_chr1_182894865_182958166	182898672	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	302	0.0033	-23	c.12 others(34): Show c.1288_*1310delTTTTTTTTTTTTTTTTTTTTTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding					1192		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182915161	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02647.hp2 others(5): Show HG01891.hp1 HG02055.hp1 HG02647.hp2 HG02818.hp1 HG02896.hp2 HG02965.hp2 HG03516.hp2 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0291 a0006c0007t0001g0295 a0006c0007t0001g0296 others(5): Show a0001c0001t0001g0291 a0006c0007t0001g0295 a0006c0007t0001g0296 a0006c0007t0001g0297 a0006c0007t0001g0298 a0006c0007t0001g0299 a0006c0007t0001g0300 a0006c0007t0001g0301	8	302	0.0265	-23	c.118 others(42): Show c.1183-9535_1183-9513delTTTTTTTTTTTTTTTTTTTTTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182932130	TAACATTC others(16): Show TAACATTCCTTGTCTGGGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp1 HG01884.hp1 others(30): Show HG01069.hp2 HG01123.hp1 HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG04199.hp2 NA18522.hp1 NA19006.hp1 NA19240.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0009 a0003c0006 others(1): Show a0001c0003 a0001c0009 a0003c0006 a0003c0008	a0001c0003t0001 a0001c0009t0001 a0003c0006t0001 others(1): Show a0001c0003t0001 a0001c0009t0001 a0003c0006t0001 a0003c0008t0001	a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 others(30): Show a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0292 a0001c0009t0001g0258 a0001c0009t0001g0260 a0003c0006t0001g0056 a0003c0006t0001g0057 a0003c0006t0001g0058 a0003c0006t0001g0059 a0003c0006t0001g0060 a0003c0006t0001g0061 a0003c0006t0001g0062 a0003c0006t0001g0063 a0003c0008t0001g0052 a0003c0008t0001g0053 a0003c0008t0001g0054 a0003c0008t0001g0055 a0003c0008t0001g0064	33	302	0.1093	-23	c.107 others(42): Show c.1077-2401_1077-2379delGGGACACCCAGACAAGGAATGTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182942080	CTGATAAG others(16): Show CTGATAAGACATGGTATATGGTAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0056 a0003c0006t0001g0056	1	302	0.0033	-23	c.556 others(40): Show c.556-1560_556-1538delATACCATATACCATGTCTTATCA		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	2/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952170	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0258 a0001c0009t0001g0258	1	302	0.0033	-23	c.405 others(38): Show c.405+536_405+558delATTTTTTTTTTTTTTTTTTTTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952184	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp2 HG03516.hp2 NA18522.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0295 a0006c0007t0001g0296 a0006c0007t0001g0295 a0006c0007t0001g0296	2	302	0.0066	-23	c.405 others(38): Show c.405+522_405+544delATATATATATATATATTTTTTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952186	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0299 a0006c0007t0001g0299	1	302	0.0033	-23	c.405 others(38): Show c.405+520_405+542delATATATATATATATATATTTTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952188	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0301 a0006c0007t0001g0301	1	302	0.0033	-23	c.405 others(38): Show c.405+518_405+540delATATATATATATATATATATTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHISA6_chr17_11236213_11569063	11388809	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02257.hp2 HG02559.hp2 others(7): Show HG02132.hp1 HG02257.hp2 HG02559.hp2 HG02735.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03927.hp2 NA18986.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0022 a0001c0009t0048	a0001c0001t0001g0069 a0001c0001t0002g0079 a0001c0001t0003g0063 others(7): Show a0001c0001t0001g0069 a0001c0001t0002g0079 a0001c0001t0003g0063 a0001c0001t0003g0153 a0001c0001t0004g0014 a0001c0001t0006g0162 a0001c0001t0006g0170 a0001c0001t0021g0132 a0001c0001t0022g0070 a0001c0009t0048g0188	10	192	0.0521	-23	c.895 others(40): Show c.895+9301_895+9323delATATATATATATATATATATATA		SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5						chr17	TogoVar
SHISA6_chr17_11236213_11569063	11388811	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	192	0.0052	-23	c.895 others(40): Show c.895+9303_895+9325delATATATATATATATATATATATA		SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5						chr17	TogoVar
SHISA9_chr16_12896598_13245416	12968189	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02280.hp2 others(5): Show HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0037 a0001c0001t0048 a0001c0001t0053 a0001c0001t0076 a0001c0002t0062	a0001c0001t0001g0058 a0001c0001t0005g0049 a0001c0001t0009g0214 others(5): Show a0001c0001t0001g0058 a0001c0001t0005g0049 a0001c0001t0009g0214 a0001c0001t0037g0157 a0001c0001t0048g0057 a0001c0001t0053g0055 a0001c0001t0076g0108 a0001c0002t0062g0182	8	214	0.0374	-23	c.691 others(42): Show c.691+51389_691+51411delAAAAAAAAAAAAAAAAAAAAAAA		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019924	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	214	0.0047	-23	c.691 others(44): Show c.691+103112_691+103134delCTTTCTTTCTTTCTTTCTTTCTT		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44264988	TAACACAC others(16): Show TAACACACACACAACAGAGACCCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02615.hp1 others(3): Show HG02486.hp1 HG02486.hp2 HG02615.hp1 HG03041.hp2 HG03209.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0034 a0001c0039 others(2): Show a0001c0004 a0001c0034 a0001c0039 a0001c0349 a0001c0351	a0001c0004t0010 a0001c0034t0051 a0001c0039t0054 others(2): Show a0001c0004t0010 a0001c0034t0051 a0001c0039t0054 a0001c0349t0017 a0001c0351t0010	a0001c0004t0010g0065 a0001c0004t0010g0236 a0001c0034t0051g0127 others(3): Show a0001c0004t0010g0065 a0001c0004t0010g0236 a0001c0034t0051g0127 a0001c0039t0054g0135 a0001c0349t0017g0034 a0001c0351t0010g0302	6	380	0.0158	-23	c.600 others(42): Show c.600-15326_600-15304delGGGGTCTCTGTTGTGTGTGTGTT		SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4						chr22	TogoVar
SHPK_chr17_3603240_3641250	3631469	TACAATTT others(16): Show TACAATTTAGTATGACAAAAAATA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	382	0.0026	-23	c.169 others(40): Show c.169-1146_169-1124delTATTTTTTGTCATACTAAATTGT		SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6						chr17	TogoVar
SHROOM3_chr4_76430229_76788253	76449347	CTGTTTTT others(16): Show CTGTTTTTTTAAGTCCAGAATATT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0025 a0001c0036t0025	a0001c0036t0025g0184 a0001c0036t0025g0184	1	218	0.0046	-23	c.168 others(42): Show c.168+13130_168+13152delTTTTTTTAAGTCCAGAATATTTG		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735853	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG03209.hp2 others(1): Show HG02895.hp2 HG02896.hp1 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0015 a0001c0017 a0001c0015 a0001c0017	a0001c0015t0009 a0001c0017t0011 a0001c0015t0009 a0001c0017t0011	a0001c0015t0009g0059 a0001c0015t0009g0111 a0001c0017t0011g0217 others(1): Show a0001c0015t0009g0059 a0001c0015t0009g0111 a0001c0017t0011g0217 a0001c0017t0011g0218	4	218	0.0184	-23	c.588 others(40): Show c.588-2906_588-2884delAAAAAAAAAAAAAAATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735861	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0017 a0013c0037t0017	a0013c0037t0017g0176 a0013c0037t0017g0176	1	218	0.0046	-23	c.588 others(40): Show c.588-2898_588-2876delAAAAAAATATATATATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02647.hp2 others(5): Show HG02258.hp2 HG02622.hp1 HG02647.hp2 HG03139.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0025 a0001c0001t0040	a0001c0001t0001g0029 a0001c0001t0009g0008 a0001c0001t0009g0019 others(5): Show a0001c0001t0001g0029 a0001c0001t0009g0008 a0001c0001t0009g0019 a0001c0001t0009g0022 a0001c0001t0012g0179 a0001c0001t0015g0145 a0001c0001t0025g0155 a0001c0001t0040g0289	8	292	0.0274	-23	c.173 others(40): Show c.173-2828_173-2806delAAAAAAAAAAAAAAAAAAAAAAA		SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16						chr10	TogoVar
SIGIRR_chr11_400716_419999	402913	CACCCCGG others(16): Show CACCCCGGACCCCGCTCACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02970.hp1 others(13): Show HG02630.hp1 HG02717.hp2 HG02970.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0125 others(11): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0235 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0004g0238 a0001c0004t0001g0001 a0001c0004t0001g0228 a0001c0004t0001g0229 a0001c0004t0001g0230	16	242	0.0661	-23	c.29 others(34): Show c.2960_*2982delCGGGGGTGAGCGGGGTCCGGGGT		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					2802		chr11	TogoVar
SIK1_chr21_43409483_43432131	43410397	CCTCCCTC others(16): Show CCTCCCTCTCTGCCTCCCTCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02735.hp2 others(2): Show HG02451.hp1 HG02717.hp1 HG02735.hp2 HG02922.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0009 a0001c0001t0001 a0001c0001t0003 a0002c0004t0009	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0003g0003 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0003g0003 a0002c0004t0009g0011	5	32	0.1563	-23	c.63 others(34): Show c.6322_*6344delAAGAGAGGGAGGCAGAGAGGGAG		SIK1	ENSG00000142178.9	transcript	ENST00000270162.8	protein_coding					4085		chr21	TogoVar
SIK3_chr11_116838402_117103428	116942723	GAAGGGTT others(16): Show GAAGGGTTTAATGAAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0019 a0003c0005t0005g0019	1	366	0.0027	-23	c.454 others(42): Show c.454+11298_454+11320delTCTTTCTTTTTCATTAAACCCTT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24						chr11	TogoVar
SIL1_chr5_138941724_139203368	139044309	TAAGTATT others(16): Show TAAGTATTCAGGAACCATAGCTTG	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	200	0.0050	-23	c.354 others(40): Show c.354-1613_354-1591delCAAGCTATGGTTCCTGAATACTT		SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	4/9						chr5	TogoVar
SIL1_chr5_138941724_139203368	139055635	CCCCTCTC others(16): Show CCCCTCTCCCTCTCCCCACGGTCT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	200	0.0050	-23	c.245 others(40): Show c.245-4612_245-4590delAGACCGTGGGGAGAGGGAGAGGG		SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9						chr5	TogoVar
SIM1_chr6_100380009_100469921	100412603	GAAAGAAA others(16): Show GAAAGAAAGGAAAGAAAGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0184 a0002c0002t0007g0184	1	320	0.0031	-23	c.116 others(42): Show c.1167+8164_1167+8186delTTCCTTCTTTCTTTCCTTTCTTT		SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11						chr6	TogoVar
SIM1_chr6_100380009_100469921	100412616	GAAAGAAG others(16): Show GAAAGAAGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	320	0.0031	-23	c.116 others(42): Show c.1167+8151_1167+8173delTTTCTTTCTTTCTTTCCTTCTTT		SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11						chr6	TogoVar
SIM1_chr6_100380009_100469921	100458005	TTTCTCTC others(16): Show TTTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0164 a0001c0001t0006g0164	1	320	0.0031	-23	c.176 others(40): Show c.176-4184_176-4162delGAGAGAGAGAGAGAGAGAGAGAA		SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	2/11						chr6	TogoVar
SIPA1L1_chr14_71315476_71746209	71675352	CTACAGTT others(16): Show CTACAGTTTCCATCTGAAAAGCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00597.hp1 others(28): Show HG00099.hp2 HG00438.hp1 HG00597.hp1 HG00673.hp2 HG00738.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG02055.hp2 HG02257.hp1 HG02523.hp1 HG02615.hp2 HG02717.hp2 HG02738.hp1 HG03239.hp2 HG03704.hp1 NA18906.hp2 NA18957.hp1 NA18960.hp2 NA18965.hp1 NA18990.hp2 NA18993.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0009t0001 a0001c0011t0001 a0001c0017t0001	a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0069 others(28): Show a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0002g0074 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0096 a0001c0001t0002g0107 a0001c0001t0004g0168 a0001c0002t0003g0002 a0001c0009t0001g0014 a0001c0011t0001g0119 a0001c0017t0001g0172	31	174	0.1782	-23	c.310 others(42): Show c.3104+2797_3104+2819delCCATACAGTTTCCATCTGAAAAG		SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
SKIC3_chr5_95458894_95559977	95461537	TTGTACCT others(16): Show TTGTACCTGTATATAATACATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0166 a0003c0003t0004g0166	1	352	0.0028	-23	c.30 others(34): Show c.3047_*3069delTTTATGTATTATATACAGGTACA		SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding					2356		chr5	TogoVar
SKIC3_chr5_95458894_95559977	95492636	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAGAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00609.hp2 others(69): Show HG00280.hp1 HG00438.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp2 HG02040.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp2 HG02738.hp2 HG02809.hp2 HG03209.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03831.hp1 NA18747.hp1 NA18939.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp2 NA19076.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0005 a0006 others(7): Show a0001 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0014 a0015	a0001c0001 a0001c0013 a0005c0007 others(8): Show a0001c0001 a0001c0013 a0005c0007 a0006c0006 a0007c0005 a0008c0012 a0009c0009 a0010c0010 a0013c0018 a0014c0017 a0015c0016	a0001c0001t0001 a0001c0001t0006 a0001c0013t0001 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0013t0001 a0005c0007t0001 a0006c0006t0001 a0007c0005t0001 a0008c0012t0001 a0009c0009t0001 a0010c0010t0001 a0013c0018t0001 a0014c0017t0003 a0015c0016t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(63): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0230 a0001c0001t0001g0294 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0318 a0001c0001t0006g0151 a0001c0001t0006g0154 a0001c0013t0001g0140 a0005c0007t0001g0290 a0005c0007t0001g0308 a0006c0006t0001g0037 a0006c0006t0001g0038 a0006c0006t0001g0039 a0007c0005t0001g0131 a0007c0005t0001g0132 a0007c0005t0001g0149 a0008c0012t0001g0127 a0009c0009t0001g0109 a0009c0009t0001g0135 a0010c0010t0001g0123 a0013c0018t0001g0121 a0014c0017t0003g0040 a0015c0016t0001g0139	72	352	0.2046	-23	c.380 others(42): Show c.3803-1623_3803-1601delTTTTTTTCTTTTTTTTTTTTTTT		SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	36/42						chr5	TogoVar
SKI_chr1_2223319_2315213	2295704	GGGCCACG others(16): Show GGGCCACGTGTGGCTATGTGTCCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00642.hp1 others(134): Show HG00438.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01099.hp2 HG01123.hp1 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18956.hp1 NA18961.hp1 NA18971.hp2 NA18980.hp2 NA18984.hp2 NA18991.hp2 NA19002.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0067 a0001c0001t0069 a0001c0001t0075 a0001c0001t0076 a0001c0003t0001 a0001c0003t0007 a0001c0003t0009 a0001c0003t0020 a0001c0005t0003 a0001c0006t0040 a0001c0010t0048 a0001c0012t0011 a0002c0002t0011 a0002c0002t0022 a0002c0002t0043 a0002c0002t0055 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0323 a0001c0001t0002g0027 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0129 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0003g0019 a0001c0001t0003g0209 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0004g0219 a0001c0001t0004g0325 a0001c0001t0005g0066 a0001c0001t0005g0089 a0001c0001t0005g0153 a0001c0001t0005g0157 a0001c0001t0005g0161 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0221 a0001c0001t0005g0225 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0232 a0001c0001t0005g0253 a0001c0001t0005g0268 a0001c0001t0007g0004 a0001c0001t0007g0061 a0001c0001t0007g0086 a0001c0001t0007g0098 a0001c0001t0007g0108 a0001c0001t0007g0162 a0001c0001t0007g0281 a0001c0001t0007g0302 a0001c0001t0007g0305 a0001c0001t0009g0095 a0001c0001t0009g0099 a0001c0001t0009g0100 a0001c0001t0009g0103 a0001c0001t0009g0307 a0001c0001t0009g0308 a0001c0001t0010g0096 a0001c0001t0011g0003 a0001c0001t0011g0264 a0001c0001t0011g0265 a0001c0001t0012g0067 a0001c0001t0012g0155 a0001c0001t0012g0160 a0001c0001t0012g0194 a0001c0001t0012g0215 a0001c0001t0012g0258 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0013g0069 a0001c0001t0013g0176 a0001c0001t0013g0177 a0001c0001t0015g0126 a0001c0001t0015g0136 a0001c0001t0015g0236 a0001c0001t0020g0167 a0001c0001t0022g0303 a0001c0001t0023g0091 a0001c0001t0024g0005 a0001c0001t0024g0169 a0001c0001t0026g0050 a0001c0001t0037g0012 a0001c0001t0038g0212 a0001c0001t0041g0306 a0001c0001t0042g0319 a0001c0001t0044g0292 a0001c0001t0045g0294 a0001c0001t0049g0087 a0001c0001t0050g0309 a0001c0001t0053g0082 a0001c0001t0056g0315 a0001c0001t0060g0058 a0001c0001t0061g0138 a0001c0001t0062g0257 a0001c0001t0063g0259 a0001c0001t0067g0097 a0001c0001t0069g0104 a0001c0001t0075g0023 a0001c0001t0076g0113 a0001c0003t0001g0170 a0001c0003t0001g0172 a0001c0003t0001g0175 a0001c0003t0007g0171 a0001c0003t0009g0173 a0001c0003t0020g0014 a0001c0003t0020g0015 a0001c0005t0003g0137 a0001c0006t0040g0053 a0001c0010t0048g0052 a0001c0012t0011g0266 a0002c0002t0011g0179 a0002c0002t0022g0181 a0002c0002t0043g0182 a0002c0002t0055g0183 a0002c0004t0001g0187 a0002c0004t0001g0188	137	330	0.4152	-23	c.970 others(40): Show c.970-7262_970-7240delGCTATGTGTCCAGGCCACGTGTG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKOR1_chr15_67820509_67839582	67832625	TGAAGAGG others(16): Show TGAAGAGGGAATTGGCTTATCGAG	T T	frameshift_variant frameshift_variant	HIGH	HG01257.hp1 HG01257.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0013 a0007c0010t0013	a0007c0010t0013g0002 a0007c0010t0013g0002	1	428	0.0023	-23	c.268 others(32): Show c.2682_2704delGAAGAGGGAATTGGCTTATCGAG	p.Met others(5): Show p.Met894fs	SKOR1	ENSG00000188779.12	transcript	ENST00000380035.3	protein_coding	7/9	2776/3738	2682/2898	894/965			chr15	TogoVar
SLC10A6_chr4_86818468_86854384	86842851	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19066.hp2 NA19030.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0046 a0001c0001t0001g0047	2	350	0.0057	-23	c.377 others(40): Show c.377+5865_377+5887delGAAAGAAAGAAAGAAAGAAAGAA		SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5						chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48254592	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18951.hp1 NA18980.hp2 others(3): Show NA18942.hp2 NA18951.hp1 NA18980.hp2 NA19054.hp2 NA19076.hp1 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0003 a0002c0003t0002 a0002c0003t0003	a0002c0003t0002g0090 a0002c0003t0003g0066 a0002c0003t0003g0070 others(3): Show a0002c0003t0002g0090 a0002c0003t0003g0066 a0002c0003t0003g0070 a0002c0003t0003g0092 a0002c0003t0003g0223 a0002c0003t0003g0245	6	266	0.0226	-23	c.194 others(42): Show c.1943-1203_1943-1181delAAAAAAAAAAAAAAAAAAAAAAA		SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	15/26					INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC15A5_chr12_16183485_16282685	16205557	TATTCCAT others(16): Show TATTCCATAAGAAGGGAAAGGTGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp2 others(19): Show HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01884.hp2 HG02083.hp2 HG03195.hp2 HG03471.hp1 HG03579.hp2 HG03654.hp2 HG03927.hp2 NA18940.hp2 NA18967.hp1 NA19060.hp1 NA19067.hp2 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0005 others(4): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0003c0036 a0004c0004 a0004c0037	a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 a0002c0005t0001 a0003c0003t0002 a0003c0036t0002 a0004c0004t0001 a0004c0037t0007	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0062 others(18): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0007g0001 a0001c0001t0007g0206 a0001c0001t0007g0212 a0002c0002t0002g0180 a0002c0005t0001g0197 a0003c0003t0002g0255 a0003c0036t0002g0321 a0004c0004t0001g0235 a0004c0004t0001g0236 a0004c0037t0007g0320	22	324	0.0679	-23	c.148 others(44): Show c.1484-11127_1484-11105delGCACCTTTCCCTTCTTATGGAAT		SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	7/8						chr12	TogoVar
SLC16A12_chr10_89425299_89540594	89486604	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02080.hp1 HG03195.hp2 others(1): Show HG01256.hp2 HG02080.hp1 HG03195.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0010 a0002c0002t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0001	a0001c0001t0002g0029 a0001c0001t0010g0066 a0001c0001t0010g0224 others(1): Show a0001c0001t0002g0029 a0001c0001t0010g0066 a0001c0001t0010g0224 a0002c0002t0001g0089	4	292	0.0137	-23	c.-46 others(42): Show c.-46-24003_-46-23981delCTTTCTTTCTTTCTTTCTTTCTT		SLC16A12	ENSG00000152779.14	transcript	ENST00000371790.5	protein_coding	2/7						chr10	TogoVar
SLC16A7_chr12_59591029_59794841	59711458	AATGAAAT others(16): Show AATGAAATATAATGCTTAGTAGCC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0081 a0001c0001t0048g0081	1	260	0.0039	-23	c.217 others(40): Show c.217+6465_217+6487delTGAAATATAATGCTTAGTAGCCA		SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC16A9_chr10_59645764_59714850	59681697	TATATGTA others(16): Show TATATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	352	0.0028	-23	c.196 others(40): Show c.196+2376_196+2398delCATATACATATACATATACATAT		SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5						chr10	TogoVar
SLC17A6_chr11_22333381_22384503	22339128	TGTTATAT others(16): Show TGTTATATATATATGTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp2 HG02109.hp1 others(11): Show HG01099.hp2 HG01433.hp2 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02809.hp1 HG02818.hp1 HG03098.hp2 HG03654.hp2 HG03710.hp1 NA18993.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0005	a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0128 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0209 a0001c0001t0002g0208 a0001c0001t0004g0080 a0001c0001t0012g0003 a0001c0002t0005g0055 a0001c0002t0005g0056 a0001c0002t0005g0057 a0001c0002t0005g0122	14	450	0.0311	-23	c.86+ others(36): Show c.86+533_86+555delGTTATATATATATGTTATATATA		SLC17A6	ENSG00000091664.9	transcript	ENST00000263160.4	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC17A8_chr12_100352074_100427055	100423436	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0020 a0001c0008t0020	a0001c0008t0020g0259 a0001c0008t0020g0259	1	314	0.0032	-23	c.32 others(34): Show c.3278_*3300delTTTTTTTTTTTTTTTTTTTTTTT		SLC17A8	ENSG00000179520.11	transcript	ENST00000323346.10	protein_coding					1382		chr12	TogoVar
SLC1A7_chr1_53082183_53147638	53097754	GGTACACT others(16): Show GGTACACTCACACACAGCACCTCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp2 others(46): Show HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG01109.hp1 HG01109.hp2 HG02080.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp2 HG02630.hp1 HG02717.hp1 HG02895.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18968.hp2 NA18971.hp1 NA18980.hp2 NA18986.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19078.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 others(5): Show a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0012 a0001c0019 a0001c0020 a0001c0028	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(11): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0020 a0001c0003t0006 a0001c0006t0005 a0001c0006t0010 a0001c0006t0021 a0001c0009t0007 a0001c0012t0005 a0001c0019t0005 a0001c0020t0005 a0001c0028t0017	a0001c0002t0002g0035 a0001c0002t0002g0232 a0001c0002t0003g0168 others(41): Show a0001c0002t0002g0035 a0001c0002t0002g0232 a0001c0002t0003g0168 a0001c0002t0003g0231 a0001c0002t0005g0091 a0001c0002t0005g0173 a0001c0002t0005g0327 a0001c0002t0005g0342 a0001c0002t0005g0345 a0001c0002t0012g0059 a0001c0002t0012g0328 a0001c0002t0020g0167 a0001c0003t0006g0046 a0001c0003t0006g0056 a0001c0003t0006g0058 a0001c0003t0006g0170 a0001c0003t0006g0171 a0001c0003t0006g0180 a0001c0003t0006g0207 a0001c0003t0006g0313 a0001c0003t0006g0329 a0001c0006t0005g0002 a0001c0006t0005g0004 a0001c0006t0005g0055 a0001c0006t0005g0071 a0001c0006t0005g0164 a0001c0006t0005g0177 a0001c0006t0005g0199 a0001c0006t0005g0201 a0001c0006t0005g0216 a0001c0006t0005g0217 a0001c0006t0005g0236 a0001c0006t0005g0237 a0001c0006t0010g0349 a0001c0006t0010g0351 a0001c0006t0010g0353 a0001c0006t0021g0054 a0001c0009t0007g0363 a0001c0012t0005g0007 a0001c0012t0005g0074 a0001c0012t0005g0193 a0001c0019t0005g0246 a0001c0020t0005g0298 a0001c0028t0017g0033	49	400	0.1225	-23	c.698 others(40): Show c.698-4217_698-4195delTGAGGTGCTGTGTGTGAGTGTAC		SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	5/10						chr1	TogoVar
SLC1A7_chr1_53082183_53147638	53097931	ACCTCGGT others(16): Show ACCTCGGTACACTCACACACCATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(129): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0009	a0002c0001 a0002c0004 a0002c0018 others(4): Show a0002c0001 a0002c0004 a0002c0018 a0002c0022 a0003c0013 a0004c0017 a0009c0025	a0002c0001t0001 a0002c0001t0008 a0002c0001t0015 others(9): Show a0002c0001t0001 a0002c0001t0008 a0002c0001t0015 a0002c0001t0016 a0002c0001t0025 a0002c0004t0001 a0002c0004t0002 a0002c0018t0001 a0002c0022t0001 a0003c0013t0001 a0004c0017t0001 a0009c0025t0001	a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0008 others(117): Show a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0008 a0002c0001t0001g0010 a0002c0001t0001g0015 a0002c0001t0001g0025 a0002c0001t0001g0049 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0062 a0002c0001t0001g0066 a0002c0001t0001g0068 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0079 a0002c0001t0001g0080 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0092 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0105 a0002c0001t0001g0108 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0121 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0136 a0002c0001t0001g0140 a0002c0001t0001g0144 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0186 a0002c0001t0001g0191 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0212 a0002c0001t0001g0218 a0002c0001t0001g0248 a0002c0001t0001g0252 a0002c0001t0001g0284 a0002c0001t0001g0294 a0002c0001t0001g0310 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0330 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0337 a0002c0001t0001g0338 a0002c0001t0001g0340 a0002c0001t0008g0026 a0002c0001t0008g0348 a0002c0001t0008g0350 a0002c0001t0008g0355 a0002c0001t0015g0303 a0002c0001t0016g0320 a0002c0001t0025g0359 a0002c0004t0001g0020 a0002c0004t0001g0022 a0002c0004t0001g0023 a0002c0004t0001g0238 a0002c0004t0001g0240 a0002c0004t0001g0247 a0002c0004t0001g0255 a0002c0004t0001g0256 a0002c0004t0001g0261 a0002c0004t0001g0263 a0002c0004t0001g0265 a0002c0004t0001g0268 a0002c0004t0001g0271 a0002c0004t0001g0275 a0002c0004t0001g0276 a0002c0004t0001g0277 a0002c0004t0001g0278 a0002c0004t0001g0287 a0002c0004t0001g0288 a0002c0004t0001g0289 a0002c0004t0001g0290 a0002c0004t0001g0291 a0002c0004t0001g0296 a0002c0004t0001g0297 a0002c0004t0001g0299 a0002c0004t0001g0300 a0002c0004t0001g0301 a0002c0004t0001g0302 a0002c0004t0001g0304 a0002c0004t0001g0308 a0002c0004t0001g0311 a0002c0004t0001g0317 a0002c0004t0001g0318 a0002c0004t0002g0244 a0002c0018t0001g0262 a0002c0022t0001g0316 a0003c0013t0001g0214 a0003c0013t0001g0249 a0003c0013t0001g0331 a0004c0017t0001g0312 a0009c0025t0001g0134	132	400	0.3300	-23	c.698 others(40): Show c.698-4394_698-4372delCATGGTGTGTGAGTGTACCGAGG		SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	5/10						chr1	TogoVar
SLC1A7_chr1_53082183_53147638	53100180	TTCACACA others(16): Show TTCACACACCCCACCTTGGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp2 others(77): Show HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00735.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01433.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19078.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0001c0006 others(9): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0015 a0001c0019 a0001c0020 a0001c0028 a0008c0029	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(18): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0020 a0001c0003t0006 a0001c0006t0005 a0001c0006t0010 a0001c0006t0021 a0001c0007t0004 a0001c0007t0018 a0001c0007t0022 a0001c0009t0007 a0001c0011t0004 a0001c0011t0027 a0001c0012t0005 a0001c0015t0004 a0001c0019t0005 a0001c0020t0005 a0001c0028t0017 a0008c0029t0004	a0001c0002t0002g0035 a0001c0002t0002g0232 a0001c0002t0003g0168 others(69): Show a0001c0002t0002g0035 a0001c0002t0002g0232 a0001c0002t0003g0168 a0001c0002t0003g0231 a0001c0002t0005g0091 a0001c0002t0005g0173 a0001c0002t0005g0327 a0001c0002t0005g0342 a0001c0002t0005g0345 a0001c0002t0012g0059 a0001c0002t0012g0328 a0001c0002t0020g0167 a0001c0003t0006g0046 a0001c0003t0006g0056 a0001c0003t0006g0058 a0001c0003t0006g0170 a0001c0003t0006g0171 a0001c0003t0006g0180 a0001c0003t0006g0207 a0001c0003t0006g0313 a0001c0003t0006g0329 a0001c0006t0005g0002 a0001c0006t0005g0004 a0001c0006t0005g0055 a0001c0006t0005g0071 a0001c0006t0005g0164 a0001c0006t0005g0177 a0001c0006t0005g0182 a0001c0006t0005g0199 a0001c0006t0005g0201 a0001c0006t0005g0216 a0001c0006t0005g0217 a0001c0006t0005g0236 a0001c0006t0005g0237 a0001c0006t0010g0349 a0001c0006t0010g0351 a0001c0006t0010g0353 a0001c0006t0021g0054 a0001c0007t0004g0009 a0001c0007t0004g0024 a0001c0007t0004g0037 a0001c0007t0004g0053 a0001c0007t0004g0065 a0001c0007t0004g0070 a0001c0007t0004g0090 a0001c0007t0004g0111 a0001c0007t0004g0135 a0001c0007t0004g0148 a0001c0007t0004g0175 a0001c0007t0004g0185 a0001c0007t0004g0250 a0001c0007t0004g0251 a0001c0007t0004g0285 a0001c0007t0004g0346 a0001c0007t0004g0347 a0001c0007t0018g0069 a0001c0007t0022g0356 a0001c0009t0007g0363 a0001c0011t0004g0113 a0001c0011t0004g0260 a0001c0011t0004g0282 a0001c0011t0004g0286 a0001c0011t0027g0367 a0001c0012t0005g0007 a0001c0012t0005g0074 a0001c0012t0005g0193 a0001c0015t0004g0006 a0001c0015t0004g0309 a0001c0019t0005g0246 a0001c0020t0005g0298 a0001c0028t0017g0033 a0008c0029t0004g0307	80	400	0.2000	-23	c.697 others(40): Show c.697+3143_697+3165delGTATACCAAGGTGGGGTGTGTGA		SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	5/10						chr1	TogoVar
SLC1A7_chr1_53082183_53147638	53100583	ACCTCAGT others(16): Show ACCTCAGTACACTCACACAACCTG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19030.hp1 NA19043.hp2 HG03195.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0014 a0001c0008t0006 a0001c0008t0014	a0001c0008t0006g0031 a0001c0008t0006g0229 a0001c0008t0014g0027 a0001c0008t0006g0031 a0001c0008t0006g0229 a0001c0008t0014g0027	3	400	0.0075	-23	c.697 others(40): Show c.697+2740_697+2762delCAGGTTGTGTGAGTGTACTGAGG		SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	5/10						chr1	TogoVar
SLC1A7_chr1_53082183_53147638	53100925	CCACTCAC others(16): Show CCACTCACACACCCTGCACCGGTA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0040 a0001c0016t0009g0040	1	400	0.0025	-23	c.697 others(40): Show c.697+2398_697+2420delTACCGGTGCAGGGTGTGTGAGTG		SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	5/10						chr1	TogoVar
SLC20A2_chr8_42411475_42506231	42451594	GGAGGAGG others(16): Show GGAGGAGGAGGAGGAAGAGATGAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18612.hp1 HG00544.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0054 a0001c0001t0001g0056	2	238	0.0084	-23	c.614 others(40): Show c.614-6855_614-6833delTTCATCTCTTCCTCCTCCTCCTC		SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	5/10						chr8	TogoVar
SLC20A2_chr8_42411475_42506231	42451908	GGAGGAGG others(16): Show GGAGGAGGAGGAGGAAGAGATGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG03130.hp1 others(7): Show HG02559.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp2 NA18946.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0002g0001 others(7): Show a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0005g0238 a0001c0001t0007g0227	10	238	0.0420	-23	c.614 others(40): Show c.614-7169_614-7147delTTCATCTCTTCCTCCTCCTCCTC		SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	5/10						chr8	TogoVar
SLC20A2_chr8_42411475_42506231	42452357	GAGGAGGA others(16): Show GAGGAGGAAGAGATAAAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG03130.hp1 others(4): Show HG02559.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(4): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0005g0238	7	238	0.0294	-23	c.613 others(40): Show c.613+7516_613+7538delTCTCCTCTTTATCTCTTCCTCCT		SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	5/10						chr8	TogoVar
SLC20A2_chr8_42411475_42506231	42505337	AATAGGAT others(16): Show AATAGGATAGTAAATAAATAGGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0126 a0002c0002t0002g0126	1	238	0.0042	-23	c.-45 others(34): Show c.-4594_-4572delAGCCTATTTATTTACTATCCTAT		SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding					4107		chr8	TogoVar
SLC22A16_chr6_110419687_110481613	110473491	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0211 a0002c0016t0001g0211	1	416	0.0024	-23	c.53+ others(38): Show c.53+3008_53+3030delAAAAAAAAAAAAAAAAAAAAAAA		SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	1/7						chr6	TogoVar

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Search Results (Total: 4709 hits)