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 limited to 10,000 hits. Refine your search for more specific results.

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
SSBP3_chr1_54220432_54411394	54233702	TGGGAGGG others(42): Show TGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCTGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0165 a0001c0001t0007g0165	1	280	0.0036	-49	c.928 others(66): Show c.928-4925_928-4877delGGACGGGGCAGCTGGCTGGGCGGGGGGC TGACCCCCCCACCTCCCTCCC		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17						chr1	TogoVar
SSH2_chr17_29620938_29935228	29895576	TTATATAT others(42): Show TTATATATGAAATATATAAAATATATTTTATATATACATTTTATATATGA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0231 a0001c0001t0034g0231	1	232	0.0043	-49	c.63+ others(66): Show c.63+34313_63+34361delTCATATATAAAATGTATATATAAAATAT ATTTTATATATTTCATATATA		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15						chr17	TogoVar
SSH2_chr17_29620938_29935228	29895616	TTATATAT others(42): Show TTATATATGAAATATATAAAATATATTTTATATACACATTTTATATATGA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp1 HG01256.hp2 others(14): Show HG00621.hp2 HG01109.hp1 HG01256.hp2 HG02135.hp2 HG02257.hp1 HG02622.hp2 HG02647.hp1 HG02895.hp2 HG02896.hp2 HG03239.hp1 HG03453.hp1 HG03540.hp1 HG03834.hp1 HG04199.hp2 NA18951.hp2 NA19004.hp1 NA20905.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0015 a0001c0001 a0012c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0012c0015t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0023 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0063 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0113 a0001c0001t0021g0043 a0012c0015t0001g0014	17	232	0.0733	-49	c.63+ others(66): Show c.63+34273_63+34321delTCATATATAAAATGTGTATATAAAATAT ATTTTATATATTTCATATATA		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15						chr17	TogoVar
SSH2_chr17_29620938_29935228	29895656	TTATATAT others(42): Show TTATATATGAAATATATAAAATATATTTTATATACACATTTTATATATGA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01109.hp2 others(10): Show HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01496.hp1 HG01952.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG03579.hp1 NA19030.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0006c0008t0003	a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0068 others(10): Show a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0026g0057 a0006c0008t0003g0105 a0006c0008t0003g0110	13	232	0.0560	-49	c.63+ others(66): Show c.63+34233_63+34281delTCATATATAAAATGTGTATATAAAATAT ATTTTATATATTTCATATATA		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15						chr17	TogoVar
ST6GAL1_chr3_186925526_187083553	186984764	CTCCTTCC others(42): Show CTCCTTCCTTCCTTCCCTTCCTCCCTTCCTTCCTTCCTTCCATCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0272 a0001c0001t0005g0272	1	362	0.0028	-49	c.-18 others(70): Show c.-183+20856_-183+20904delTCCTCCCTTCCTTCCTTCCTTCCA TCCTTCCTTCCTTCCTTCCTTCCCT		ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76112373	GACCCCCC others(42): Show GACCCCCCCACCTCCTTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02647.hp1 HG02717.hp1 others(1): Show HG01255.hp2 HG02647.hp1 HG02717.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0017 a0001c0003t0002 others(1): Show a0001c0001t0003 a0001c0001t0017 a0001c0003t0002 a0002c0002t0001	a0001c0001t0003g0014 a0001c0001t0017g0010 a0001c0003t0002g0024 others(1): Show a0001c0001t0003g0014 a0001c0001t0017g0010 a0001c0003t0002g0024 a0002c0002t0001g0009	4	102	0.0392	-49	c.18+ others(66): Show c.18+37497_18+37545delCACCTCCTTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCTAACCCCCC		ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76112397	TGGGCGGC others(42): Show TGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCGACCTCCCTTCCGGACG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	102	0.0098	-49	c.18+ others(66): Show c.18+37542_18+37590delCCCCGACCTCCCTTCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTAACC		ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
STAG1_chr3_136331236_136757378	136723750	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	240	0.0042	-49	c.-84 others(68): Show c.-84+28396_-84+28444delGGGGGGCTGACCCCCCCACCTCCTTC CCGGACGGGGCGGCTGGCCGGGC		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33						chr3	TogoVar
STAG1_chr3_136331236_136757378	136723837	GGTCAGCC others(42): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	240	0.0042	-49	c.-84 others(68): Show c.-84+28309_-84+28357delTCCCCCACCACCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGAC		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33						chr3	TogoVar
STARD13_chr13_33098137_33290755	33177871	AAGGAAAG others(42): Show AAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02027.hp2 HG02293.hp1 others(1): Show HG01952.hp2 HG02027.hp2 HG02293.hp1 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0002c0003t0003 a0001c0001t0001 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0200 a0002c0003t0002g0258 a0002c0003t0003g0033 others(1): Show a0001c0001t0001g0200 a0002c0003t0002g0258 a0002c0003t0003g0033 a0002c0003t0003g0243	4	302	0.0133	-49	c.170 others(68): Show c.170-10298_170-10250delCCTTCCTTCCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTTCCT		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13						chr13	TogoVar
STARD6_chr18_54319492_54362858	54343639	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	350	0.0029	-49	c.141 others(66): Show c.141-6437_141-6389delGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC		STARD6	ENSG00000174448.9	transcript	ENST00000307844.4	protein_coding	4/7						chr18	TogoVar
STARD6_chr18_54319492_54362858	54343677	GGTCGGCC others(42): Show GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	350	0.0029	-49	c.141 others(66): Show c.141-6475_141-6427delACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGAC		STARD6	ENSG00000174448.9	transcript	ENST00000307844.4	protein_coding	4/7						chr18	TogoVar
STEAP4_chr7_88265892_88311894	88266076	ACCTCCCG others(42): Show ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02976.hp1 HG03195.hp2 others(1): Show HG02818.hp2 HG02976.hp1 HG03195.hp2 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0005 a0001c0001 a0008c0005	a0001c0001t0011 a0008c0005t0011 a0001c0001t0011 a0008c0005t0011	a0001c0001t0011g0021 a0001c0001t0011g0088 a0008c0005t0011g0111 a0001c0001t0011g0021 a0001c0001t0011g0088 a0008c0005t0011g0111	4	318	0.0126	-49	c.13 others(62): Show c.13273_*13321delGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCACCCCGTCCGGGAGG		STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding					4815		chr7	TogoVar
STEAP4_chr7_88265892_88311894	88266172	TTCCCTCC others(42): Show TTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG02572.hp2 others(7): Show HG00639.hp2 HG01081.hp1 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG03225.hp2 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0030 others(1): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0030 a0001c0001t0059	a0001c0001t0004g0035 a0001c0001t0004g0060 a0001c0001t0004g0225 others(5): Show a0001c0001t0004g0035 a0001c0001t0004g0060 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0009g0016 a0001c0001t0030g0226 a0001c0001t0059g0069	10	318	0.0315	-49	c.13 others(62): Show c.13177_*13225delGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGA		STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding					4719		chr7	TogoVar
STEAP4_chr7_88265892_88311894	88266233	TGGGGCGG others(42): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp2 others(26): Show HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00738.hp1 HG01074.hp2 HG01106.hp2 HG01952.hp1 HG01975.hp2 HG02056.hp2 HG02165.hp2 HG02698.hp2 HG02738.hp2 HG03710.hp2 HG04184.hp2 NA18952.hp2 NA18968.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19054.hp2 NA19056.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(6): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0037 a0001c0001t0050 a0001c0001t0051 a0001c0001t0058	a0001c0001t0006g0077 a0001c0001t0007g0017 a0001c0001t0007g0018 others(21): Show a0001c0001t0006g0077 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0057 a0001c0001t0007g0080 a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0087 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0008g0009 a0001c0001t0008g0019 a0001c0001t0008g0074 a0001c0001t0008g0075 a0001c0001t0008g0076 a0001c0001t0008g0081 a0001c0001t0009g0078 a0001c0001t0009g0079 a0001c0001t0009g0153 a0001c0001t0016g0250 a0001c0001t0037g0083 a0001c0001t0050g0232 a0001c0001t0051g0082 a0001c0001t0058g0084	29	318	0.0912	-49	c.13 others(62): Show c.13116_*13164delGCCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCC		STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding					4658		chr7	TogoVar
STEAP4_chr7_88265892_88311894	88266536	GGGGGCGG others(42): Show GGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02970.hp1 others(2): Show HG02572.hp1 HG02615.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0108 a0001c0001t0005g0109 others(2): Show a0001c0001t0005g0073 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0113 a0001c0001t0005g0115	5	318	0.0157	-49	c.12 others(62): Show c.12813_*12861delATCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCCGGCCAGCCGCCCC		STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding					4355		chr7	TogoVar
STK32B_chr4_5046480_5505989	5205164	GACTGGGA others(42): Show GACTGGGACTTATATCATTGCCTCTCCTGGTCCTCAGGCCTTTGGACACC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	170	0.0059	-49	c.260 others(68): Show c.260+36727_260+36775delATCATTGCCTCTCCTGGTCCTCAGGC CTTTGGACACCACTGGGACTTAT		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STON1_chr2_48525154_48603513	48555599	TGACCCCC others(42): Show TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0272 a0001c0003t0002g0272	1	376	0.0027	-49	c.-47 others(68): Show c.-47-24964_-47-24916delTGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGA		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48555778	CCCCCCCA others(42): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp1 HG02602.hp2 others(1): Show HG00438.hp2 HG01192.hp1 HG02602.hp2 NA18972.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0004 a0001c0001t0001 a0003c0004t0004	a0001c0001t0001g0016 a0001c0001t0001g0167 a0001c0001t0001g0261 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0167 a0001c0001t0001g0261 a0003c0004t0004g0328	4	376	0.0106	-49	c.-47 others(68): Show c.-47-24802_-47-24754delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGGCTGACCCCCC		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564431	CTTCTTCT others(42): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp2 HG02451.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0035 a0001c0003t0001 a0001c0003t0035	a0001c0003t0001g0204 a0001c0003t0035g0027 a0001c0003t0001g0204 a0001c0003t0035g0027	2	376	0.0053	-49	c.-47 others(68): Show c.-47-16105_-47-16057delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STX6_chr1_180967725_181027870	181023037	TCTCTCTC others(42): Show TCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	350	0.0029	-49	c.-41 others(58): Show c.-413_-365delGAGAGAGAGGAGAGAGAGGAGAGAGAGGAGAGAGAG GAGAGAGAGAGAG		STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding					168		chr1	TogoVar
STXBP5L_chr3_120903205_121429761	121313395	ACCCCCCA others(42): Show ACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01069.hp1 others(25): Show HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG02004.hp1 HG02559.hp1 HG02683.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp2 NA18954.hp2 NA18980.hp2 NA18991.hp2 NA19007.hp1 NA19030.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp2 NA20129.hp2 NA20805.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0008 a0004c0004 others(1): Show a0001c0001 a0001c0008 a0004c0004 a0009c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0008t0005 a0004c0004t0005 a0009c0007t0005	a0001c0001t0003g0251 a0001c0001t0003g0255 a0001c0001t0003g0256 others(25): Show a0001c0001t0003g0251 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0290 a0001c0001t0017g0284 a0001c0001t0026g0265 a0001c0001t0027g0276 a0001c0001t0030g0254 a0001c0001t0031g0286 a0001c0008t0005g0268 a0004c0004t0005g0270 a0004c0004t0005g0273 a0004c0004t0005g0274 a0004c0004t0005g0275 a0009c0007t0005g0269	28	290	0.0966	-49	c.211 others(68): Show c.2111-5063_2111-5015delCGGACTGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCC		STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444013	GGGGGTCA others(42): Show GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	280	0.0036	-49	c.106 others(70): Show c.1063-43211_1063-43163delTCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGACCCC		SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10						chr3	TogoVar
SULF2_chr20_47652406_47790481	47727946	ACGGAGGC others(42): Show ACGGAGGCGGCAAATCCGTGCCTCTCGAGGACACGCTGGGTCAGCCTGGG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0294 a0001c0002t0002g0294	1	364	0.0028	-49	c.415 others(66): Show c.415+8708_415+8756delCCCAGGCTGACCCAGCGTGTCCTCGAGA GGCACGGATTTGCCGCCTCCG		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20						chr20	TogoVar
SULT4A1_chr22_43819509_43867513	43822742	AGTGTGTG others(42): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTCAGTGCTATGGCAAGAAGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02523.hp1 NA18612.hp2 others(10): Show HG02165.hp1 HG02523.hp1 NA18612.hp2 NA18943.hp1 NA18951.hp1 NA18954.hp1 NA18998.hp2 NA19010.hp1 NA19011.hp2 NA19060.hp2 NA19063.hp2 NA19072.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0211 others(9): Show a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0223 a0001c0001t0002g0231 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264	13	386	0.0337	-49	c.32 others(60): Show c.3210_*3258delACACACTTCTTGCCATAGCACTGACACACACACA CACACACACACACAC		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding					1766		chr22	TogoVar
SV2C_chr5_76078383_76338956	76171681	CGGCCAGC others(42): Show CGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG01256.hp1 others(35): Show HG00423.hp1 HG00735.hp1 HG01256.hp1 HG01258.hp2 HG01884.hp1 HG01928.hp1 HG01981.hp1 HG02015.hp2 HG02083.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG03139.hp2 HG03195.hp1 HG03704.hp1 HG04184.hp1 HG04228.hp2 NA18951.hp2 NA18955.hp2 NA18975.hp1 NA18981.hp1 NA18992.hp1 NA19001.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19060.hp1 NA19068.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0022 a0001c0001t0023 a0001c0001t0040 a0001c0001t0042 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0077 a0001c0001t0090 a0001c0001t0092 a0001c0001t0131 a0001c0001t0137 a0001c0001t0157 a0001c0002t0152 a0001c0002t0153 a0002c0003t0001 a0002c0003t0021 a0002c0003t0044 a0002c0003t0059 a0002c0003t0067 a0002c0006t0095 a0003c0004t0019 a0003c0004t0038 a0003c0004t0057 a0003c0004t0058 a0003c0004t0091	a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0054 others(35): Show a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0003g0171 a0001c0001t0007g0122 a0001c0001t0008g0104 a0001c0001t0008g0130 a0001c0001t0022g0214 a0001c0001t0023g0102 a0001c0001t0040g0070 a0001c0001t0042g0072 a0001c0001t0052g0055 a0001c0001t0053g0045 a0001c0001t0054g0063 a0001c0001t0055g0064 a0001c0001t0077g0212 a0001c0001t0090g0106 a0001c0001t0092g0211 a0001c0001t0131g0181 a0001c0001t0137g0159 a0001c0001t0157g0029 a0001c0002t0152g0199 a0001c0002t0153g0200 a0002c0003t0001g0026 a0002c0003t0021g0103 a0002c0003t0021g0105 a0002c0003t0044g0074 a0002c0003t0059g0043 a0002c0003t0067g0109 a0002c0006t0095g0091 a0003c0004t0019g0145 a0003c0004t0038g0066 a0003c0004t0057g0071 a0003c0004t0058g0051 a0003c0004t0091g0107	38	234	0.1624	-49	c.581 others(68): Show c.581-23189_581-23141delTGGCCAGCCGTGCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCC		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76336017	ACCTCCCG others(42): Show ACCTCCCGGAGGGGGCGGCTAGCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG03209.hp1 NA20300.hp1 HG01496.hp1 HG03209.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0006 a0001c0002 a0002c0003 a0002c0006	a0001c0002t0009 a0002c0003t0085 a0002c0006t0147 a0001c0002t0009 a0002c0003t0085 a0002c0006t0147	a0001c0002t0009g0186 a0002c0003t0085g0215 a0002c0006t0147g0195 a0001c0002t0009g0186 a0002c0003t0085g0215 a0002c0006t0147g0195	3	234	0.0128	-49	c.10 others(62): Show c.10471_*10519delCCTCCCGGAGGGGGCGGCTAGCCGGGCGGGGG GCTGACCCCCCCACCTC		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding					2062		chr5	TogoVar
SYNDIG1_chr20_24464629_24671616	24625998	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCAGGTGGGGGGCTGACT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG03486.hp2 HG02615.hp1 HG02630.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0004c0005t0001g0269 a0001c0001t0001g0008 a0001c0001t0001g0019 a0004c0005t0001g0269	3	270	0.0111	-49	c.619 others(68): Show c.619-39327_619-39279delGGGGTGGCTGGCCAGGTGGGGGGCTG ACTCCCCCACCTCCCTCCCGGAC		SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNPO_chr5_150635660_150664207	150638401	TTTGATCT others(42): Show TTTGATCTAGAATCTAGATGAATCTTGGATTTAGACAAATCTAAAATTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0044 a0001c0001t0016g0044	1	390	0.0026	-49	c.-27 others(60): Show c.-2785_-2737delTTGATCTAGAATCTAGATGAATCTTGGATTTAGA CAAATCTAAAATTCA		SYNPO	ENSG00000171992.13	transcript	ENST00000307662.5	protein_coding					2258		chr5	TogoVar
SYNRG_chr17_37509807_37614418	37565887	GCAGCCAC others(42): Show GCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0147 a0001c0003t0003g0147	1	349	0.0029	-49	c.148 others(68): Show c.1481+2855_1481+2903delGCCGGGCAGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTG		SYNRG	ENSG00000275066.5	transcript	ENST00000612223.5	protein_coding	11/21						chr17	TogoVar
SYNRG_chr17_37509807_37614418	37565893	ACCCCGTC others(42): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02300.hp1 HG02486.hp2 others(17): Show HG02055.hp2 HG02300.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0011 a0001c0001t0028 a0001c0003t0001 others(4): Show a0001c0001t0011 a0001c0001t0028 a0001c0003t0001 a0001c0005t0005 a0001c0005t0008 a0001c0005t0009 a0001c0005t0029	a0001c0001t0011g0340 a0001c0001t0011g0341 a0001c0001t0011g0342 others(16): Show a0001c0001t0011g0340 a0001c0001t0011g0341 a0001c0001t0011g0342 a0001c0001t0011g0343 a0001c0001t0028g0116 a0001c0003t0001g0135 a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0273 a0001c0005t0005g0274 a0001c0005t0005g0277 a0001c0005t0005g0278 a0001c0005t0005g0279 a0001c0005t0005g0280 a0001c0005t0008g0266 a0001c0005t0009g0005 a0001c0005t0009g0265 a0001c0005t0009g0281 a0001c0005t0029g0276	20	349	0.0573	-49	c.148 others(68): Show c.1481+2849_1481+2897delCGGCTGGCCGGGCAGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGG		SYNRG	ENSG00000275066.5	transcript	ENST00000612223.5	protein_coding	11/21						chr17	TogoVar
SYT3_chr19_50616977_50644881	50619889	GCCTGGAT others(42): Show GCCTGGATAATTTTATTATTATTATTATTATTATTATTATTATTATTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00639.hp1 others(44): Show HG00140.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03490.hp1 HG03540.hp1 HG03834.hp1 HG04184.hp1 NA18906.hp1 NA19010.hp2 NA19043.hp1 NA19062.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0011 a0001c0003t0003 a0001c0004t0001 a0001c0005t0004 a0001c0008t0001 a0001c0011t0001 a0001c0014t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0002g0098 a0001c0001t0004g0180 a0001c0002t0002g0078 a0001c0002t0011g0112 a0001c0003t0003g0225 a0001c0003t0003g0253 a0001c0004t0001g0038 a0001c0004t0001g0158 a0001c0005t0004g0108 a0001c0008t0001g0160 a0001c0011t0001g0151 a0001c0014t0003g0242	47	388	0.1211	-49	c.25 others(60): Show c.2547_*2595delTATAATAATAATAATAATAATAATAATAATAATA ATAAAATTATCCAGG		SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding					2087		chr19	TogoVar
TACC2_chr10_121984163_122259542	122203364	GGGCTGAC others(42): Show GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02258.hp2 HG02559.hp2	a0023 a0023	a0023c0020 a0023c0020	a0023c0020t0002 a0023c0020t0004 a0023c0020t0002 a0023c0020t0004	a0023c0020t0002g0109 a0023c0020t0004g0305 a0023c0020t0002g0109 a0023c0020t0004g0305	2	306	0.0065	-49	c.597 others(68): Show c.5972-7003_5972-6955delGGGCGGCTGGCTGGGCGGGCGGCTGA CCCCCCCACCTCCCTCCCGGACG		TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr10	TogoVar
TAFA1_chr3_67999247_68550621	68421555	CATTTTTG others(42): Show CATTTTTGATAGAATGACATTTGCTTTCTAACCTCAGCTTCCTCGTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	156	0.0064	-49	c.259 others(66): Show c.259+4161_259+4209delTCTAACCTCAGCTTCCTCGTCTTTATTT TTGATAGAATGACATTTGCTT		TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA4_chr3_68726766_68937547	68838757	ATCCCTAT others(42): Show ATCCCTATTCAGGGTGACAGGGACACAGCAGGGAATAAAACAGACAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19060.hp2 HG02040.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0053 a0001c0001t0009g0052 a0001c0001t0001g0053 a0001c0001t0009g0052	2	316	0.0063	-49	c.130 others(68): Show c.130+41924_130+41972delCTTTTGTCTGTTTTATTCCCTGCTGT GTCCCTGTCACCCTGAATAGGGA		TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5						chr3	TogoVar
TARBP2_chr12_53496283_53511431	53498908	CTGTGTGT others(42): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-49	c.-25 others(60): Show c.-2500_-2452delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGT		TARBP2	ENSG00000139546.12	transcript	ENST00000266987.7	protein_coding					2374		chr12	TogoVar
TARBP2_chr12_53496283_53511431	53498955	TGTGTGTG others(42): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-49	c.-24 others(60): Show c.-2453_-2405delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTG		TARBP2	ENSG00000139546.12	transcript	ENST00000266987.7	protein_coding					2327		chr12	TogoVar
TBATA_chr10_70766238_70790377	70767760	AGCCAGGA others(42): Show AGCCAGGACCTGTAGTTTGGTGAATCTGGATTTCAATTCTGAAACCTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA19081.hp1 NA18971.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	410	0.0049	-49	c.35 others(60): Show c.3567_*3615delCAGAGGTTTCAGAATTGAAATCCAGATTCACCAA ACTACAGGTCCTGGC		TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding					3477		chr10	TogoVar
TBC1D32_chr6_121074494_121339480	121213475	AAAATAAA others(42): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG00735.hp2 others(46): Show HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01081.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02523.hp2 HG03688.hp1 HG03688.hp2 HG06807.hp1 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA19002.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0009 a0003c0004 a0003c0013 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0002t0002 a0002c0009t0004 a0003c0004t0003 a0003c0004t0011 a0003c0004t0028 a0003c0013t0003 a0008c0014t0002	a0001c0001t0001g0196 a0001c0001t0002g0123 a0001c0003t0002g0277 others(46): Show a0001c0001t0001g0196 a0001c0001t0002g0123 a0001c0003t0002g0277 a0002c0002t0002g0251 a0002c0002t0002g0254 a0002c0002t0002g0259 a0002c0002t0002g0265 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0009t0004g0001 a0003c0004t0003g0002 a0003c0004t0003g0003 a0003c0004t0003g0006 a0003c0004t0003g0007 a0003c0004t0003g0008 a0003c0004t0003g0011 a0003c0004t0003g0012 a0003c0004t0003g0013 a0003c0004t0003g0015 a0003c0004t0003g0017 a0003c0004t0003g0019 a0003c0004t0003g0021 a0003c0004t0003g0024 a0003c0004t0003g0025 a0003c0004t0003g0026 a0003c0004t0003g0027 a0003c0004t0003g0028 a0003c0004t0003g0029 a0003c0004t0003g0030 a0003c0004t0003g0031 a0003c0004t0003g0034 a0003c0004t0003g0035 a0003c0004t0003g0036 a0003c0004t0003g0038 a0003c0004t0003g0039 a0003c0004t0003g0040 a0003c0004t0003g0041 a0003c0004t0003g0043 a0003c0004t0003g0076 a0003c0004t0011g0009 a0003c0004t0011g0023 a0003c0004t0011g0033 a0003c0004t0028g0010 a0003c0013t0003g0037 a0008c0014t0002g0253	49	292	0.1678	-49	c.248 others(68): Show c.2482-8361_2482-8313delATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTT		TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31						chr6	TogoVar
TBC1D3G_chr17_36318884_36339759	36335373	AATGGTAG others(42): Show AATGGTAGAGCTGATTGCTCATACACAAAGGTAGACCGGTGGGCAGGGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0035 a0002c0002t0002g0035	1	148	0.0068	-49	c.93 others(58): Show c.930_*978delATGGTAGAGCTGATTGCTCATACACAAAGGTAGACC GGTGGGCAGGGAT		TBC1D3G	ENSG00000260287.4	transcript	ENST00000569055.2	protein_coding					615		chr17	TogoVar
TBC1D5_chr3_17152168_17747631	17705103	ACCCCCCA others(42): Show ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	162	0.0062	-49	c.-10 others(70): Show c.-101+37329_-101+37377delGTCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGG		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22						chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17705128	GCGGCTGG others(42): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp1 others(79): Show HG00099.hp2 HG00140.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02056.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18957.hp1 NA18986.hp1 NA18999.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0003t0003 a0001c0006t0006 a0002c0002t0001 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(79): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0133 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0045 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0138 a0001c0001t0003g0048 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0004g0007 a0001c0001t0004g0049 a0001c0001t0004g0061 a0001c0001t0004g0065 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0114 a0001c0001t0004g0146 a0001c0001t0005g0008 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0006g0074 a0001c0001t0009g0123 a0001c0001t0010g0143 a0001c0001t0013g0001 a0001c0001t0015g0132 a0001c0001t0017g0111 a0001c0001t0018g0019 a0001c0001t0020g0139 a0001c0001t0022g0152 a0001c0001t0023g0137 a0001c0001t0024g0018 a0001c0001t0025g0135 a0001c0001t0026g0136 a0001c0003t0003g0131 a0001c0006t0006g0076 a0002c0002t0001g0023 a0002c0002t0001g0072 a0002c0002t0001g0077 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0140 a0002c0002t0001g0154 a0002c0004t0001g0071 a0003c0005t0001g0115	82	162	0.5062	-49	c.-10 others(70): Show c.-101+37304_-101+37352delTGCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCG		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22						chr3	TogoVar
TBCK_chr4_106036599_106321209	106319083	ATAGGGAA others(42): Show ATAGGGAAATTAGAGGTTTTGAGTAGAGACACTTTCAAATTTGTGTAGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0085 a0001c0001t0013g0085	1	320	0.0031	-49	c.-32 others(60): Show c.-3231_-3183delCGCTACACAAATTTGAAAGTGTCTCTACTCAAAA CCTCTAATTTCCCTA		TBCK	ENSG00000145348.17	transcript	ENST00000394708.7	protein_coding					2875		chr4	TogoVar
TBX2_chr17_61394843_61414466	61403710	GACCCCTT others(42): Show GACCCCTTGGGAGGCGCTTAGAGAATTACCTTCCAATCAAAGGGCTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	438	0.0023	-49	c.810 others(64): Show c.810+504_810+552delACCCCTTGGGAGGCGCTTAGAGAATTACCT TCCAATCAAAGGGCTTTTT		TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	3/6						chr17	TogoVar
TCAP_chr17_39660349_39671554	39669505	ACACATTT others(42): Show ACACATTTGCAGAGGAGAAGGAAGAACTAGAGAGAGGCAGGGAGATGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	386	0.0026	-49	c.33 others(60): Show c.3397_*3445delCACATTTGCAGAGGAGAAGGAAGAACTAGAGAGA GGCAGGGAGATGCAG		TCAP	ENSG00000173991.6	transcript	ENST00000309889.3	protein_coding					2952		chr17	TogoVar
TCEAL1_chrX_103623975_103635953	103634910	AAAAGGAC others(42): Show AAAAGGACCAGAGACAACTCCTTCCCCCATTACGAAACACTAATCTAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	-49	c.45 others(60): Show c.4515_*4563delAAAGGACCAGAGACAACTCCTTCCCCCATTACGA AACACTAATCTAAAC		TCEAL1	ENSG00000172465.14	transcript	ENST00000372625.8	protein_coding					3958		chrX	TogoVar
TCHH_chr1_152101317_152120444	152111959	TCAGCTGC others(42): Show TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCG	T T	frameshift_variant frameshift_variant	HIGH	HG02040.hp1 HG02040.hp2 HG02040.hp1 HG02040.hp2	a0063 a0063	a0063c0080 a0063c0081 a0063c0080 a0063c0081	a0063c0080t0004 a0063c0081t0004 a0063c0080t0004 a0063c0081t0004	a0063c0080t0004g0067 a0063c0081t0004g0068 a0063c0080t0004g0067 a0063c0081t0004g0068	2	402	0.0050	-49	c.120 others(58): Show c.1209_1257delCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCG CGAGCAGCAGCTG	p.Glu others(5): Show p.Glu404fs	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1342/6985	1209/5832	403/1943			chr1	TogoVar
TCHH_chr1_152101317_152120444	152111977	TCAGCTGC others(42): Show TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCG	T T	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01167.hp2 HG01169.hp1 others(12): Show HG00642.hp2 HG01167.hp2 HG01169.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG02074.hp2 HG02293.hp2 HG02300.hp1 NA18960.hp1 NA19066.hp1 NA19075.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	15	402	0.0373	-49	c.119 others(58): Show c.1191_1239delCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCG CGAGCAGCAGCTG	p.Glu others(5): Show p.Glu398fs	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1324/6985	1191/5832	397/1943			chr1	TogoVar
TECTB_chr10_112278400_112310038	112300230	TAAAGAAA others(42): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG03471.hp1 HG02257.hp2 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0023 a0001c0001t0004 a0001c0001t0007 a0001c0001t0023	a0001c0001t0004g0104 a0001c0001t0007g0168 a0001c0001t0023g0111 a0001c0001t0004g0104 a0001c0001t0007g0168 a0001c0001t0023g0111	3	438	0.0069	-49	c.907 others(64): Show c.907+708_907+756delAAGAAAGAAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGA		TECTB	ENSG00000119913.6	transcript	ENST00000646139.2	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
TENM2_chr5_166974029_168269157	167859887	CCGCCCCG others(42): Show CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0026 a0001c0006t0004g0028 a0001c0006t0004g0026 a0001c0006t0004g0028	2	54	0.0370	-49	c.503 others(68): Show c.503-16050_503-16002delTCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAG		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar

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