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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC39A11_chr17_72640949_73097688	73047989	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03139.hp2 HG03516.hp2 others(1): Show HG01099.hp1 HG03139.hp2 HG03516.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0001c0001t0001 a0001c0001t0005 a0001c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0005g0117 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0005g0117 a0001c0005t0001g0111	4	180	0.0222	-23	c.148 others(42): Show c.148-16298_148-16276delATATATATATATATATATATATT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73047991	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(13): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00639.hp2 HG01433.hp1 HG01496.hp1 HG02027.hp2 HG02083.hp2 HG02559.hp1 HG02809.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03927.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0001c0020 others(4): Show a0001c0001 a0001c0011 a0001c0020 a0001c0022 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0011t0003 a0001c0020t0001 a0001c0022t0001 a0002c0002t0002 a0002c0004t0006 a0003c0003t0015	a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0104 others(13): Show a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0139 a0001c0001t0002g0103 a0001c0001t0003g0025 a0001c0001t0004g0113 a0001c0001t0004g0173 a0001c0001t0008g0163 a0001c0001t0009g0034 a0001c0011t0003g0159 a0001c0020t0001g0020 a0001c0022t0001g0175 a0002c0002t0002g0035 a0002c0004t0006g0039 a0003c0003t0015g0178	16	180	0.0889	-23	c.148 others(42): Show c.148-16300_148-16278delATATATATATATATATATATATA	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22396455	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0183	1	324	0.0031	-23	c.-15 others(40): Show c.-15-8240_-15-8218delAGAGAGAGAGAGAGAGAGAGAGA	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A1_chr1_153954110_153968537	153957461	CCCCTTGG others(16): Show CCCCTTGGTCCCTCTGACCTCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	396	0.0025	-23	c.26 others(34): Show c.2614_*2636delCTGGAGGTCAGAGGGACCAAGGG	SLC39A1	ENSG00000143570.19	transcript	ENST00000356205.9	protein_coding		1648		chr1	TogoVar
SLC39A4_chr8_144407414_144421844	144418132	GTCAGGGT others(16): Show GTCAGGGTGCTTCCCCTGCCGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	422	0.0024	-23	c.-13 others(34): Show c.-1366_-1344delGGCCGGCAGGGGAAGCACCCTGA	SLC39A4	ENSG00000147804.10	transcript	ENST00000301305.8	protein_coding		1289		chr8	TogoVar
SLC43A3_chr11_57401954_57432121	57403483	GAAGAGGA others(16): Show GAAGAGGAAGAAGAGGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	330	0.0030	-23	c.42 others(34): Show c.4286_*4308delTTCTTCTTCCTCTTCTTCCTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3470		chr11	TogoVar
SLC4A4_chr4_71182259_71577083	71196834	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02965.hp1 HG02258.hp2 HG02559.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0098 a0001c0001t0003g0107 a0001c0001t0005g0108 a0001c0001t0002g0098 a0001c0001t0003g0107 a0001c0001t0005g0108	3	152	0.0197	-23	c.-2+ others(38): Show c.-2+9451_-2+9473delAAAAAAAAAAAAAAAAAAAAAAA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A5_chr2_74211242_74348416	74275589	TCCTTCCC others(16): Show TCCTTCCCAGTTGGGAAGACAATG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp1 HG03453.hp2 others(2): Show HG02630.hp2 HG02895.hp1 HG03453.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0008 a0001c0001t0020 a0001c0002t0001 others(1): Show a0001c0001t0008 a0001c0001t0020 a0001c0002t0001 a0001c0014t0001	a0001c0001t0008g0017 a0001c0001t0020g0029 a0001c0002t0001g0021 others(2): Show a0001c0001t0008g0017 a0001c0001t0020g0029 a0001c0002t0001g0021 a0001c0002t0001g0092 a0001c0014t0001g0265	5	282	0.0177	-23	c.401 others(42): Show c.401+10161_401+10183delCATTGTCTTCCCAACTGGGAAGG	SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	8/30			chr2	TogoVar
SLC4A9_chr5_140355194_140380141	140375280	CACACACA others(16): Show CACACACACACACACACACACAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	1	396	0.0025	-23	c.50 others(32): Show c.500_*522delACACACACACACACACACACAAA	SLC4A9	ENSG00000113073.15	transcript	ENST00000506757.7	protein_coding		140		chr5	TogoVar
SLC5A8_chr12_101150493_101215238	101200032	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01168.hp1 others(33): Show HG00735.hp2 HG00738.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01934.hp1 HG02004.hp2 HG02040.hp1 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02615.hp1 HG02683.hp2 HG02735.hp1 HG02886.hp1 HG03017.hp1 HG04199.hp2 NA18612.hp1 NA18945.hp1 NA18954.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18972.hp2 NA18982.hp1 NA19007.hp1 NA19030.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0022 others(1): Show a0001c0001 a0001c0002 a0001c0022 a0002c0015	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0025 a0001c0002t0001 a0001c0022t0003 a0002c0015t0002	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 others(29): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0055 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0004g0207 a0001c0001t0006g0263 a0001c0001t0025g0203 a0001c0002t0001g0340 a0001c0022t0003g0189 a0002c0015t0002g0167	36	375	0.0960	-23	c.469 others(40): Show c.469+2109_469+2131delCTTTTTTTTTTTTTTTTTTTTTT	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	3/14			chr12	TogoVar
SLC6A11_chr3_10811228_10945714	10811799	TCCAAAAA others(16): Show TCCAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03239.hp1 HG02615.hp2 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0002 a0001c0003t0001 a0001c0005t0002	a0001c0003t0001g0200 a0001c0005t0002g0203 a0001c0003t0001g0200 a0001c0005t0002g0203	2	362	0.0055	-23	c.-44 others(34): Show c.-4466_-4444delCCAAAAAAAAAAAAAAAAAAAAA	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding		4428		chr3	TogoVar
SLC6A12_chr12_185081_219157	187613	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAACAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0047 a0002c0003t0018g0047	1	420	0.0024	-23	c.34 others(34): Show c.3432_*3454delGTTTGTTTTTTTTTTTTTTTTTT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding		2467		chr12	TogoVar
SLC6A6_chr3_14397606_14494349	14436531	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	376	0.0027	-23	c.-11 others(40): Show c.-11-7065_-11-7043delTTTTTTTTTTTTTTTTTTTTTTT	SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A6_chr3_14397606_14494349	14459878	CTCTTCTT others(16): Show CTCTTCTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(158): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0002c0002t0007	a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0037 others(157): Show a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0265 a0001c0001t0001g0283 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0342 a0001c0001t0001g0367 a0001c0001t0001g0372 a0001c0001t0002g0028 a0001c0001t0002g0062 a0001c0001t0002g0074 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0192 a0001c0001t0002g0210 a0001c0001t0002g0236 a0001c0001t0002g0246 a0001c0001t0002g0256 a0001c0001t0002g0262 a0001c0001t0002g0269 a0001c0001t0002g0290 a0001c0001t0002g0298 a0001c0001t0002g0313 a0001c0001t0002g0331 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0102 a0001c0001t0003g0118 a0001c0001t0003g0129 a0001c0001t0003g0153 a0001c0001t0003g0173 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0204 a0001c0001t0003g0214 a0001c0001t0003g0250 a0001c0001t0003g0255 a0001c0001t0003g0277 a0001c0001t0003g0299 a0001c0001t0003g0305 a0001c0001t0003g0326 a0001c0001t0003g0340 a0001c0001t0003g0344 a0001c0001t0004g0060 a0001c0001t0004g0079 a0001c0001t0004g0172 a0001c0001t0004g0231 a0001c0001t0004g0288 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0131 a0001c0001t0005g0138 a0001c0001t0005g0203 a0001c0001t0005g0337 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0007g0003 a0001c0001t0008g0198 a0001c0001t0008g0266 a0001c0001t0008g0339 a0001c0001t0009g0128 a0001c0001t0010g0030 a0001c0001t0010g0041 a0001c0001t0010g0076 a0001c0001t0010g0179 a0001c0001t0011g0049 a0001c0001t0011g0162 a0001c0001t0011g0191 a0001c0001t0011g0193 a0001c0001t0012g0087 a0001c0001t0012g0117 a0001c0001t0013g0336 a0001c0001t0013g0353 a0001c0001t0014g0163 a0001c0001t0016g0025 a0001c0001t0016g0134 a0001c0001t0016g0140 a0001c0001t0016g0142 a0001c0001t0017g0026 a0001c0001t0017g0264 a0001c0001t0017g0280 a0001c0001t0017g0348 a0001c0001t0018g0070 a0001c0001t0018g0165 a0001c0001t0018g0169 a0001c0001t0018g0180 a0001c0001t0020g0170 a0001c0001t0020g0322 a0001c0001t0022g0244 a0001c0001t0025g0268 a0001c0001t0025g0349 a0001c0001t0026g0332 a0001c0001t0028g0324 a0001c0001t0029g0278 a0001c0001t0029g0284 a0001c0001t0034g0229 a0001c0001t0035g0175 a0001c0001t0040g0287 a0001c0001t0041g0089 a0001c0001t0043g0035 a0001c0001t0044g0139 a0001c0001t0048g0301 a0001c0001t0050g0364 a0001c0001t0051g0239 a0001c0001t0054g0240 a0001c0001t0055g0132 a0001c0001t0056g0263 a0001c0001t0058g0259 a0001c0001t0059g0319 a0001c0001t0060g0066 a0001c0001t0061g0285 a0001c0001t0062g0368 a0001c0001t0063g0371 a0002c0002t0007g0207 a0002c0002t0007g0267 a0002c0002t0007g0311	161	376	0.4282	-23	c.732 others(40): Show c.732+1798_732+1820delCTTCTTTTTTTTTTTTTTTTTTT	SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC7A11_chr4_138159097_138247349	138237723	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0069 a0001c0003t0021g0069	1	364	0.0028	-23	c.278 others(40): Show c.278-1295_278-1273delAAAAAAAAATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A1_chr13_29504414_29600688	29558908	GTGAGGGG others(16): Show GTGAGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	330	0.0030	-23	c.-11 others(42): Show c.-114-5071_-114-5049delTCACTCACATTCTCTCCCCCTCA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559026	GTGAGGGG others(16): Show GTGAGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	330	0.0030	-23	c.-11 others(42): Show c.-114-5189_-114-5167delTCACTCACATTCTCTCCCCCTCA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A5_chr16_87825023_87874507	87843347	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0115 a0001c0011t0001g0115	1	390	0.0026	-23	c.665 others(40): Show c.665-2215_665-2193delAAAAAAAAAAAAAAAAAAAAAAA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	2/9			chr16	TogoVar
SLC8A3_chr14_70039215_70193951	70174651	GTTTTTTT others(16): Show GTTTTTTTTTTGTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0267 a0001c0001t0067g0267	1	296	0.0034	-23	c.-62 others(40): Show c.-62-6190_-62-6168delAAAAAAAAAAAACAAAAAAAAAA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding	1/6			chr14	TogoVar
SLC9A3_chr5_465456_529449	495089	CCAGGTGG others(16): Show CCAGGTGGGGGGGCGCCGTGGCCG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01074.hp1 others(2): Show HG00735.hp2 HG01071.hp2 HG01074.hp1 HG02922.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0011 a0001c0003t0008 a0002c0005t0016 a0001c0001t0011 a0001c0003t0008 a0002c0005t0016	a0001c0001t0011g0154 a0001c0003t0008g0038 a0001c0003t0008g0039 others(2): Show a0001c0001t0011g0154 a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 a0002c0005t0016g0002	5	218	0.0229	-23	c.212 others(40): Show c.212-3041_212-3019delCGGCCACGGCGCCCCCCCACCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A7_chrX_46594251_46764118	46633336	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0141 a0001c0003t0031g0141	1	250	0.0040	-23	c.167 others(42): Show c.1677-1710_1677-1688delTTTTTTTTTTTTTTTTTTTTTTT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	13/16			chrX	TogoVar
SLC9A7_chrX_46594251_46764118	46714572	TATATTTT others(16): Show TATATTTTTTGAGATCCCCGACAA	T T	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA20805.hp1 NA19005.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0003g0182 a0001c0001t0001g0096 a0001c0001t0003g0182	2	250	0.0080	-23	c.326 others(42): Show c.326-32060_326-32038delTTGTCGGGGATCTCAAAAAATAT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A9_chr3_143260222_143853468	143843056	AAAATCAT others(16): Show AAAATCATCAAGATTAAGAAACTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG01884.hp2 others(14): Show HG01109.hp2 HG01433.hp1 HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02622.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03579.hp2 HG04115.hp2 NA18906.hp2 NA18950.hp1 NA19043.hp1 NA19084.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0014 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0014 a0001c0003t0008 a0001c0013t0004 a0001c0014t0001 a0001c0015t0021	a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0002g0069 others(14): Show a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0016g0081 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0003g0067 a0001c0002t0008g0080 a0001c0002t0009g0070 a0001c0002t0014g0077 a0001c0003t0008g0074 a0001c0013t0004g0079 a0001c0014t0001g0073 a0001c0015t0021g0066	17	108	0.1574	-23	c.175 others(40): Show c.175+5069_175+5091delAAGTTTCTTAATCTTGATGATTT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	1/15			chr3	TogoVar
SLCO1A2_chr12_21259600_21339917	21271646	TATATACA others(16): Show TATATACATATGTGTATATAAACA	T T	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	310	0.0032	-23	c.179 others(42): Show c.1794-1902_1794-1880delTGTTTATATACACATATGTATAT	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	14/14			chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20828284	TTGTAAGA others(16): Show TTGTAAGAACTATTTTAGTAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0232 a0001c0004t0003g0232	1	284	0.0035	-23	c.84+ others(40): Show c.84+12463_84+12485delTGTAAGAACTATTTTAGTAAAAA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding	3/15			chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20878135	TTAATTCC others(16): Show TTAATTCCATAGGTGAAATTCACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0015	a0001c0001 a0001c0004 a0001c0008 others(11): Show a0001c0001 a0001c0004 a0001c0008 a0001c0011 a0001c0013 a0003c0005 a0004c0006 a0005c0007 a0006c0010 a0007c0012 a0008c0014 a0009c0016 a0012c0018 a0015c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0012 a0001c0008t0006 a0001c0011t0002 a0001c0013t0002 a0003c0005t0002 a0003c0005t0003 a0003c0005t0006 a0004c0006t0001 a0004c0006t0004 a0005c0007t0002 a0006c0010t0001 a0007c0012t0001 a0008c0014t0001 a0009c0016t0001 a0012c0018t0003 a0015c0022t0006	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0022 others(155): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0002g0057 a0001c0001t0002g0086 a0001c0001t0002g0175 a0001c0001t0002g0230 a0001c0001t0003g0239 a0001c0001t0003g0250 a0001c0001t0003g0266 a0001c0001t0004g0106 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0005g0005 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0233 a0001c0001t0005g0235 a0001c0001t0005g0251 a0001c0001t0005g0268 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0275 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0039 a0001c0001t0007g0126 a0001c0001t0011g0246 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0138 a0001c0004t0002g0003 a0001c0004t0002g0010 a0001c0004t0002g0038 a0001c0004t0002g0042 a0001c0004t0002g0134 a0001c0004t0002g0144 a0001c0004t0002g0146 a0001c0004t0002g0148 a0001c0004t0002g0150 a0001c0004t0002g0152 a0001c0004t0002g0153 a0001c0004t0002g0181 a0001c0004t0002g0183 a0001c0004t0002g0184 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0187 a0001c0004t0003g0232 a0001c0004t0003g0236 a0001c0004t0004g0093 a0001c0004t0004g0112 a0001c0004t0005g0240 a0001c0004t0012g0182 a0001c0008t0006g0123 a0001c0008t0006g0124 a0001c0011t0002g0179 a0001c0013t0002g0164 a0003c0005t0002g0002 a0003c0005t0002g0191 a0003c0005t0002g0209 a0003c0005t0003g0241 a0003c0005t0003g0242 a0003c0005t0003g0253 a0003c0005t0003g0269 a0003c0005t0003g0270 a0003c0005t0003g0271 a0003c0005t0003g0274 a0003c0005t0003g0276 a0003c0005t0003g0277 a0003c0005t0006g0119 a0004c0006t0001g0070 a0004c0006t0001g0072 a0004c0006t0001g0085 a0004c0006t0001g0125 a0004c0006t0004g0101 a0005c0007t0002g0065 a0005c0007t0002g0066 a0005c0007t0002g0067 a0006c0010t0001g0180 a0007c0012t0001g0163 a0008c0014t0001g0019 a0009c0016t0001g0223 a0012c0018t0003g0267 a0015c0022t0006g0090	162	284	0.5704	-23	c.113 others(40): Show c.1135+206_1135+228delCATAGGTGAAATTCACCTAATTC	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20717648	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	296	0.0034	-23	c.775 others(38): Show c.775+440_775+462delTTTTTTTTTTTTTTTTTTTTTTT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO2A1_chr3_133927701_134034925	134017611	CCTGGCTG others(16): Show CCTGGCTGCTTAGTTCCACCATCA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp2 HG02970.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0016 a0002c0003 a0002c0016	a0002c0003t0003 a0002c0016t0004 a0002c0003t0003 a0002c0016t0004	a0002c0003t0003g0031 a0002c0016t0004g0032 a0002c0003t0003g0031 a0002c0016t0004g0032	2	342	0.0059	-23	c.96+ others(40): Show c.96+12073_96+12095delTGATGGTGGAACTAAGCAGCCAG	SLCO2A1	ENSG00000174640.15	transcript	ENST00000310926.11	protein_coding	1/13			chr3	TogoVar
SLCO4A1_chr20_62637503_62677293	62665995	AGGGGGTG others(16): Show AGGGGGTGTGGCTGCCCTGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	432	0.0023	-23	c.127 others(40): Show c.1277-381_1277-359delGGTGTGGCTGCCCTGGAGGGGGG	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO4C1_chr5_102228986_102301284	102294939	TATACAGA others(16): Show TATACAGAAAATATTCTCGGACTA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	354	0.0028	-23	c.355 others(38): Show c.355+946_355+968delTAGTCCGAGAATATTTTCTGTAT	SLCO4C1	ENSG00000173930.9	transcript	ENST00000310954.7	protein_coding	1/12			chr5	TogoVar
SLFN5_chr17_35238072_35278655	35260612	GCTGCTCA others(16): Show GCTGCTCAGGAGGATTGCTTGAAC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0060 a0003c0003t0060	a0003c0003t0060g0125 a0003c0003t0060g0125	1	446	0.0022	-23	c.101 others(40): Show c.1013-355_1013-333delCTCAGGAGGATTGCTTGAACCTG	SLFN5	ENSG00000166750.10	transcript	ENST00000299977.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLX4IP_chr20_10430305_10633030	10628414	CCCAAGTG others(16): Show CCCAAGTGGATTCATTTCCATTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG01081.hp1 others(52): Show HG00621.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02257.hp1 HG02293.hp1 HG02615.hp2 HG02738.hp1 HG02922.hp1 HG03017.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG04228.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18964.hp2 NA18969.hp2 NA18982.hp1 NA18986.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19068.hp1 NA19081.hp2 NA19082.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 others(9): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0025 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0057 a0001c0001t0058	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(52): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0251 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0008g0055 a0001c0001t0008g0073 a0001c0001t0008g0083 a0001c0001t0008g0090 a0001c0001t0008g0102 a0001c0001t0012g0058 a0001c0001t0012g0106 a0001c0001t0012g0240 a0001c0001t0012g0241 a0001c0001t0025g0246 a0001c0001t0025g0247 a0001c0001t0043g0103 a0001c0001t0044g0057 a0001c0001t0045g0085 a0001c0001t0046g0109 a0001c0001t0047g0255 a0001c0001t0048g0159 a0001c0001t0057g0218 a0001c0001t0058g0121	55	266	0.2068	-23	c.50 others(34): Show c.5036_*5058delCCAAGTGGATTCATTTCCATTTT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding		385		chr20	TogoVar
SMAD3_chr15_67060602_67200169	67160770	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0301 a0001c0002t0002g0301	1	310	0.0032	-23	c.207 others(40): Show c.207-4105_207-4083delAAAAAAAAAAAAAAAAAAAAAAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67160790	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0300 a0001c0002t0029g0300	1	310	0.0032	-23	c.207 others(40): Show c.207-4102_207-4080delAAAAAAAAAAAAAAAAAAAAGAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD4_chr18_51025213_51090042	51064018	AATTTTAA others(16): Show AATTTTAAGCATCAATCATACTTC	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	302	0.0033	-23	c.956 others(40): Show c.956-1398_956-1376delAGCATCAATCATACTTCATTTTA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD7_chr18_48914853_48955965	48936094	ACACACAC others(16): Show ACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp1 NA19065.hp2 HG01884.hp2 HG03453.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0009 a0001c0006t0003 a0001c0001t0001 a0001c0001t0009 a0001c0006t0003	a0001c0001t0001g0223 a0001c0001t0009g0364 a0001c0006t0003g0059 a0001c0001t0001g0223 a0001c0001t0009g0364 a0001c0006t0003g0059	3	398	0.0075	-23	c.742 others(40): Show c.742+6364_742+6386delGTGTGTGTGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD9_chr13_36839831_36925238	36905774	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(93): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18940.hp1 NA18942.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18988.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp2 NA19007.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0003c0008 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(34): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0038 a0001c0001t0042 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0102 a0001c0001t0103 a0001c0002t0036 a0001c0006t0028 a0003c0008t0023 a0004c0005t0002	a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(93): Show a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0003g0203 a0001c0001t0007g0016 a0001c0001t0007g0024 a0001c0001t0007g0026 a0001c0001t0007g0028 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0042 a0001c0001t0007g0051 a0001c0001t0007g0053 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0067 a0001c0001t0007g0079 a0001c0001t0007g0083 a0001c0001t0007g0084 a0001c0001t0011g0164 a0001c0001t0012g0032 a0001c0001t0012g0035 a0001c0001t0012g0045 a0001c0001t0012g0056 a0001c0001t0012g0060 a0001c0001t0012g0081 a0001c0001t0018g0018 a0001c0001t0018g0069 a0001c0001t0018g0070 a0001c0001t0019g0046 a0001c0001t0019g0049 a0001c0001t0019g0080 a0001c0001t0023g0005 a0001c0001t0023g0006 a0001c0001t0024g0040 a0001c0001t0024g0063 a0001c0001t0024g0078 a0001c0001t0025g0015 a0001c0001t0025g0019 a0001c0001t0025g0086 a0001c0001t0028g0207 a0001c0001t0028g0209 a0001c0001t0029g0205 a0001c0001t0029g0206 a0001c0001t0029g0212 a0001c0001t0030g0213 a0001c0001t0030g0214 a0001c0001t0030g0217 a0001c0001t0038g0050 a0001c0001t0038g0073 a0001c0001t0042g0204 a0001c0001t0047g0008 a0001c0001t0052g0017 a0001c0001t0053g0082 a0001c0001t0054g0065 a0001c0001t0055g0039 a0001c0001t0056g0085 a0001c0001t0058g0038 a0001c0001t0077g0215 a0001c0001t0078g0211 a0001c0001t0079g0208 a0001c0001t0080g0216 a0001c0001t0081g0220 a0001c0001t0082g0218 a0001c0001t0083g0219 a0001c0001t0084g0225 a0001c0001t0086g0268 a0001c0001t0102g0355 a0001c0001t0103g0356 a0001c0002t0036g0290 a0001c0002t0036g0310 a0001c0002t0036g0311 a0001c0006t0028g0210 a0003c0008t0023g0007 a0004c0005t0002g0030	96	358	0.2682	-23	c.-18 others(44): Show c.-187+14319_-187+14341delTTTTTTTTTTTTTTTTTTTTTTT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36925116	CTCAGAGC others(16): Show CTCAGAGCAGCATCACTACATGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0119 a0001c0001t0020g0119	1	358	0.0028	-23	c.-52 others(34): Show c.-5210_-5188delTTCATGTAGTGATGCTGCTCTGA	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding		4879		chr13	TogoVar
SMARCAL1_chr2_216407484_216488053	216466633	TATAGAAC others(16): Show TATAGAACAACAAAGCTGTGTATG	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	408	0.0025	-23	c.214 others(42): Show c.2142-1309_2142-1287delTAGAACAACAAAGCTGTGTATGA	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
SMARCB1_chr22_23781966_23843009	23822957	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(24): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG01255.hp1 HG01517.hp1 HG02027.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02273.hp1 HG02300.hp1 HG02572.hp2 HG02683.hp2 HG02738.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03491.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 NA18951.hp2 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0032 a0001c0002t0003 a0001c0002t0032	a0001c0002t0003g0172 a0001c0002t0003g0174 a0001c0002t0003g0175 others(24): Show a0001c0002t0003g0172 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0032g0173	27	363	0.0744	-23	c.796 others(40): Show c.796-2249_796-2227delTTTTTTTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23834490	GCAACAGG others(16): Show GCAACAGGTCATGTTCAATTTCTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01099.hp1 others(49): Show HG00733.hp1 HG00735.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp2 HG02683.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp1 NA18612.hp1 NA18906.hp2 NA18949.hp1 NA18956.hp1 NA18962.hp2 NA18983.hp1 NA19001.hp1 NA19030.hp1 NA19068.hp2 NA19079.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 others(8): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0005t0010	a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0036 others(49): Show a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0319 a0001c0001t0005g0331 a0001c0001t0005g0354 a0001c0001t0010g0016 a0001c0001t0010g0017 a0001c0001t0010g0019 a0001c0001t0010g0021 a0001c0001t0010g0023 a0001c0001t0010g0024 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0011g0034 a0001c0001t0011g0039 a0001c0001t0011g0048 a0001c0001t0011g0049 a0001c0001t0011g0050 a0001c0001t0011g0051 a0001c0001t0011g0055 a0001c0001t0011g0058 a0001c0001t0014g0068 a0001c0001t0014g0069 a0001c0001t0014g0070 a0001c0001t0014g0071 a0001c0001t0014g0072 a0001c0001t0020g0332 a0001c0001t0020g0333 a0001c0001t0029g0018 a0001c0001t0030g0022 a0001c0001t0035g0330 a0001c0001t0036g0334 a0001c0001t0037g0038 a0001c0005t0010g0020	52	363	0.1433	-23	c.33 others(32): Show c.337_*359delCAGGTCATGTTCAATTTCTTCAA	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	9/9	337	INFO_REALIGN_3_PRIME	chr22	TogoVar
SMCO4_chr11_93473472_93548391	93534239	CACACACA others(16): Show CACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	412	0.0024	-23	c.-15 others(42): Show c.-154+9014_-154+9036delTGTGTGTGTGTGTGTGTGTGTGT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG8_chr17_59205035_59220230	59219059	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02109.hp2 others(19): Show HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02293.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG06807.hp1 NA18967.hp1 NA19030.hp1 NA19055.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0012 a0001c0001 a0002c0004 a0005c0012	a0001c0001t0001 a0002c0004t0001 a0005c0012t0001 a0001c0001t0001 a0002c0004t0001 a0005c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0004t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0004t0001g0001 a0005c0012t0001g0001	22	394	0.0558	-23	c.40 others(34): Show c.4058_*4080delTTTTTTTTTTTTTTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		3830		chr17	TogoVar
SMIM10L1_chr12_11166194_11181016	11168367	GAAAAGAA others(16): Show GAAAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	397	0.0025	-23	c.-29 others(34): Show c.-2989_-2967delAAAAGAAAGAAAGAAAGAAAGAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2826		chr12	TogoVar
SMIM14_chr4_39541336_39643865	39576672	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19007.hp2 NA18982.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0096 a0001c0001t0003g0097	2	344	0.0058	-23	c.76- others(38): Show c.76-4232_76-4210delAAAAAAAAAAATATATATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576676	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	344	0.0029	-23	c.76- others(38): Show c.76-4236_76-4214delAAAAAAAAAAAAAAATATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM21_chr18_75404476_75432703	75426631	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18968.hp2 NA18969.hp1 HG01169.hp1 NA18968.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0057 a0001c0001t0003g0081 a0001c0001t0021g0058 a0001c0001t0003g0057 a0001c0001t0003g0081 a0001c0001t0021g0058	3	432	0.0069	-23	c.129 others(38): Show c.129+781_129+803delTTTTTTTTTTTTTTTTTTTTTTT	SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	1/2			chr18	TogoVar
SMIM27_chr9_32547327_32558007	32553106	AGCAACCT others(16): Show AGCAACCTAAATCTGACAGTCTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02486.hp1 others(2): Show HG01884.hp1 HG01891.hp2 HG02486.hp1 HG02572.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	5	386	0.0130	-23	c.18 others(32): Show c.184_*206delGCAACCTAAATCTGACAGTCTTG	SMIM27	ENSG00000235453.12	transcript	ENST00000692500.1	protein_coding		100		chr9	TogoVar
SMIM31_chr4_164749131_164808795	164758801	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	364	0.0028	-23	c.-26 others(40): Show c.-26+4408_-26+4430delTTTTTTTTTTTTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMO_chr7_129183633_129218545	129193778	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20129.hp2 HG02976.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0029 a0002c0003t0003g0029	2	410	0.0049	-23	c.331 others(40): Show c.331+4298_331+4320delAAAAAAATATATATATATATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar

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