Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NTM_chr11_131365615_132341822	131873539	TATATATA others(41): Show TATATATATACATATATATATACCGTATATATATACATATATATATACC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG01496.hp1 others(1): Show HG01081.hp2 HG01243.hp2 HG01496.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0001t0001g0078 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0006g0034	4	86	0.0465	-48	c.83- others(65): Show c.83-38024_83-37977delATATATATACATATATATATACCGTATA TATATACATATATATATACC		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8						chr11	TogoVar
NTN5_chr19_48656407_48678017	48669076	TCACCATC others(41): Show TCACCATCATCACCACCACCATCACCACTATCACCATCATCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	412	0.0024	-48	c.631 others(65): Show c.631+1232_631+1279delGTGGTGGTGATGATGGTGATAGTGGTGA TGGTGGTGGTGATGATGGTG		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NTSR1_chr20_62703836_62767771	62747391	TATGACAG others(41): Show TATGACAGACCCACAGCTAACACCACACTCAGTGTAAAGGCCACGTATG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0179 a0001c0001t0015g0179	1	316	0.0032	-48	c.715 others(65): Show c.715-7244_715-7197delTGACAGACCCACAGCTAACACCACACTC AGTGTAAAGGCCACGTATGA		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NUMB_chr14_73270216_73463546	73352455	CACATACA others(41): Show CACATACACACACACACACACACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	322	0.0031	-48	c.126 others(65): Show c.126+3123_126+3170delATATATATATATATATATATATATATGT GTGTGTGTGTGTGTGTATGT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12						chr14	TogoVar
NUP205_chr7_135552917_135653753	135567120	CTATGTGT others(41): Show CTATGTGTGTATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01243.hp1 others(3): Show HG00140.hp2 HG00642.hp1 HG01243.hp1 HG01358.hp1 HG01361.hp1 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0001 a0001c0014t0001 a0001c0002t0001 a0001c0014t0001	a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 others(3): Show a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0267 a0001c0014t0001g0234 a0001c0014t0001g0275	6	352	0.0171	-48	c.29- others(63): Show c.29-3981_29-3934delGTGTGTATATATATATATATATATATATAT ATATATATATATATATAT		NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42					INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210L_chr1_153987690_154160073	154125691	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0283 a0015c0017t0001g0283	1	290	0.0035	-48	c.132 others(65): Show c.1326+584_1326+631delCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39						chr1	TogoVar
NUP62CL_chrX_107118427_107211433	107204821	TTTAAATA others(41): Show TTTAAATAAATTTTAAATAAATTATTTATTTAAATAAATTTTAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	280	0.0036	-48	c.-92 others(65): Show c.-92+1404_-92+1451delTTTATTTAAAATTTATTTAAATAAATAA TTTATTTAAAATTTATTTAA		NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8						chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107204845	TTTATTTA others(41): Show TTTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp2 HG03130.hp1 others(3): Show HG02886.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp1 NA18980.hp2 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0003c0003t0003 a0001c0001t0002 a0001c0001t0003 a0003c0003t0003	a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0003g0136 others(3): Show a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0003g0136 a0001c0001t0003g0138 a0003c0003t0003g0137 a0003c0003t0003g0139	6	280	0.0214	-48	c.-92 others(65): Show c.-92+1380_-92+1427delTTTATTTAAAATTTATTTAAATAATTTA TTTAAAATTTATTTAAATAA		NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8						chrX	TogoVar
NUP85_chr17_75200679_75240758	75212228	GGTTTTTT others(41): Show GGTTTTTTTTTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	276	0.0036	-48	c.361 others(63): Show c.361+167_361+214delGTTTTTTTTTTTGTTGTTGTTTTTTTTTTT TTTTTTTTTTTTTTTTTT		NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	4/18						chr17	TogoVar
NXF2B_chrX_102355395_102445008	102412477	AAAGAAGA others(41): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18985.hp1 HG03492.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0003 a0001c0001t0001g0032	2	54	0.0370	-48	c.-54 others(67): Show c.-54+26028_-54+26075delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTT		NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22						chrX	TogoVar
NXF2B_chrX_102355395_102445008	102412525	GAAGAAGA others(41): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	54	0.0185	-48	c.-54 others(67): Show c.-54+25980_-54+26027delTTCTTCCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTT		NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22						chrX	TogoVar
NXF2_chrX_102242167_102331722	102274532	CTTCCTCT others(41): Show CTTCCTCTTCCTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA20805.hp2 HG00280.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0009 a0001c0001t0001g0032	2	38	0.0526	-48	c.-54 others(67): Show c.-54+25975_-54+26022delTTCCTCTTCCTCTTCTTCCTTCTTCT TCTTCTTCTTCTTCTTCTTCTT		NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22						chrX	TogoVar
NXNL1_chr19_17450425_17465926	17463789	AAGAAGAA others(41): Show AAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-48	c.-29 others(59): Show c.-2968_-2921delCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCT		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2864		chr19	TogoVar
OCA2_chr15_27749875_28104315	27913880	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01255.hp1 HG01258.hp2 others(1): Show HG00558.hp1 HG01255.hp1 HG01258.hp2 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0008 a0001c0032 others(1): Show a0001c0006 a0001c0008 a0001c0032 a0003c0012	a0001c0006t0001 a0001c0008t0001 a0001c0032t0001 others(1): Show a0001c0006t0001 a0001c0008t0001 a0001c0032t0001 a0003c0012t0001	a0001c0006t0001g0058 a0001c0008t0001g0049 a0001c0032t0001g0063 others(1): Show a0001c0006t0001g0058 a0001c0008t0001g0049 a0001c0032t0001g0063 a0003c0012t0001g0014	4	110	0.0364	-48	c.207 others(69): Show c.2079+12199_2079+12246delGCTTGCTTGCTTGCTTGCTTGCTT GCTTGCTTGCTTTCTTTCTTTCTT		OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	19/23						chr15	TogoVar
ODAD3_chr19_11415605_11440121	11424971	GTATATAT others(41): Show GTATATATGTGTATATGTACATATGTGTATATGTATATATGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	398	0.0025	-48	c.964 others(63): Show c.964-990_964-943delTATATACACATATATACATATACACATATG TACATATACACATATATA		ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12						chr19	TogoVar
OIP5_chr15_41304273_41337591	41329790	CTACCAGA others(41): Show CTACCAGATTCAAGCAATTCTCTGCCTCAGTCTCCCAAGTAGCTGGGAT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	356	0.0028	-48	c.389 others(65): Show c.389+2077_389+2124delATCCCAGCTACTTGGGAGACTGAGGCAG AGAATTGCTTGAATCTGGTA		OIP5	ENSG00000104147.9	transcript	ENST00000220514.8	protein_coding	2/4						chr15	TogoVar
OLA1_chr2_174067447_174253532	174163703	AATAAATA others(41): Show AATAAATAAATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp2 HG02809.hp1 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0028 a0002c0002t0023 a0002c0002t0028	a0002c0002t0023g0251 a0002c0002t0028g0009 a0002c0002t0023g0251 a0002c0002t0028g0009	2	262	0.0076	-48	c.374 others(67): Show c.374-21751_374-21704delATATATATATATATATATATATATAT ATATATATATATATTTATTTAT		OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10						chr2	TogoVar
OLA1_chr2_174067447_174253532	174163707	AATAAATA others(41): Show AATAAATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00639.hp1 others(7): Show HG00140.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016	a0001c0001t0002g0183 a0001c0001t0012g0052 a0001c0001t0013g0050 others(7): Show a0001c0001t0002g0183 a0001c0001t0012g0052 a0001c0001t0013g0050 a0001c0001t0013g0051 a0001c0001t0013g0053 a0001c0001t0013g0055 a0001c0001t0013g0106 a0001c0001t0013g0161 a0001c0001t0016g0049 a0001c0001t0016g0054	10	262	0.0382	-48	c.374 others(67): Show c.374-21755_374-21708delATATATATATATATATATATATATAT ATATATATATATATATATTTAT		OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10						chr2	TogoVar
OLA1_chr2_174067447_174253532	174163729	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG00738.hp1 others(49): Show HG00558.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG03225.hp1 HG03710.hp2 NA18522.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18956.hp1 NA18963.hp1 NA18965.hp1 NA18973.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19076.hp1 NA19082.hp1 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0030 a0001c0001t0033 a0001c0001t0036	a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0061 others(49): Show a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0008g0047 a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0010g0057 a0001c0001t0010g0060 a0001c0001t0010g0080 a0001c0001t0010g0136 a0001c0001t0030g0064 a0001c0001t0033g0107 a0001c0001t0036g0058	52	262	0.1985	-48	c.374 others(67): Show c.374-21777_374-21730delTTATATATATATATATATATATATAT ATATATATATATATATATATAT		OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10						chr2	TogoVar
OLFM1_chr9_135082668_135126180	135119691	ACCTGAAG others(41): Show ACCTGAAGACAGAGACCATCCTCAAGACCCGCAGCCTGGACTATGCCGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18941.hp1 NA18941.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0248 a0003c0010t0002g0248	1	360	0.0028	-48	c.972 others(56): Show c.972_1019delCCTGAAGACAGAGACCATCCTCAAGACCCGCAGCCTG GACTATGCCGG	p.Leu others(13): Show p.Leu325_Gly340del	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	6/6	1294/2782	972/1458	324/485			chr9	TogoVar
OPCML_chr11_132409981_133537501	132973850	AAGAAAGC others(41): Show AAGAAAGCACGGAGTGGATCTGGCCTAGCCTACCCCTTACCAAGCATAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18522.hp1 HG02258.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0050 a0001c0001t0005g0038 a0001c0001t0003g0050 a0001c0001t0005g0038	2	68	0.0294	-48	c.62- others(65): Show c.62-30888_62-30841delCTATGCTTGGTAAGGGGTAGGCTAGGCC AGATCCACTCCGTGCTTTCT		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133140835	AGAAGACG others(41): Show AGAAGACGACGACGACGACGAAGAAGACGACGACGACGAAGAAGACGAC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01258.hp2 HG01496.hp1 others(4): Show HG01071.hp2 HG01258.hp2 HG01496.hp1 HG02647.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0020	a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0026 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0008g0010 a0001c0001t0014g0017 a0001c0001t0020g0033	7	68	0.1029	-48	c.62- others(67): Show c.62-197873_62-197826delGTCGTCTTCTTCGTCGTCGTCGTCTT CTTCGTCGTCGTCGTCGTCTTC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133140997	AGACGACG others(41): Show AGACGACGACGACGACGACGACGACGACGACGACGACGACGACGACGAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03516.hp1 HG06807.hp2 HG02647.hp1 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0020 a0001c0001t0003 a0001c0001t0013 a0001c0001t0020	a0001c0001t0003g0016 a0001c0001t0013g0041 a0001c0001t0020g0033 a0001c0001t0003g0016 a0001c0001t0013g0041 a0001c0001t0020g0033	3	68	0.0441	-48	c.62- others(67): Show c.62-198035_62-197988delGTCGTCGTCGTCGTCGTCGTCGTCGT CGTCGTCGTCGTCGTCGTCGTC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133458576	TGTGTGTA others(41): Show TGTGTGTACACATATATACACGTGTGTGTGTGTATACACATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp2 HG02630.hp1 others(2): Show HG00642.hp2 HG01496.hp2 HG02630.hp1 HG03098.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0028 a0001c0001t0030	a0001c0001t0001g0047 a0001c0001t0007g0029 a0001c0001t0009g0060 others(2): Show a0001c0001t0001g0047 a0001c0001t0007g0029 a0001c0001t0009g0060 a0001c0001t0028g0059 a0001c0001t0030g0067	5	68	0.0735	-48	c.61+ others(65): Show c.61+73640_61+73687delGTGTATATATGTGTATACACACACACAC GTGTATATATGTGTACACAC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OR10A4_chr11_6871625_6882619	6881978	ATATTGAA others(41): Show ATATTGAAGTATAAGTAATATAGAGAAACTGCATATATTTAATGTATAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	-48	c.43 others(59): Show c.4384_*4431delTATTGAAGTATAAGTAATATAGAGAAACTGCATA TATTTAATGTATAC		OR10A4	ENSG00000170782.3	transcript	ENST00000379829.2	protein_coding					4360		chr11	TogoVar
OR1F1_chr16_3183204_3211556	3197989	AGGAGAGG others(41): Show AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01884.hp2 others(14): Show HG01069.hp1 HG01071.hp1 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02818.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0017 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0017 a0002c0002t0001 a0003c0003t0005	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 others(11): Show a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0017g0060 a0002c0002t0001g0072 a0003c0003t0005g0002 a0003c0003t0005g0090 a0003c0003t0005g0176 a0003c0003t0005g0177 a0003c0003t0005g0178 a0003c0003t0005g0179 a0003c0003t0005g0180	17	328	0.0518	-48	c.-12 others(65): Show c.-12-6204_-12-6157delAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR2B11_chr1_247444182_247463104	247458624	GGTGTGTG others(41): Show GGTGTGTGTATGTGTGTGTGTGTTGAACTCTTTAGGGCTGGTGCGTGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0164 a0010c0032t0164	a0010c0032t0164g0216 a0010c0032t0164g0216	1	478	0.0021	-48	c.-41 others(59): Show c.-4116_-4069delACCACGCACCAGCCCTAAAGAGTTCAACACACAC ACACATACACACAC		OR2B11	ENSG00000177535.10	transcript	ENST00000641149.2	protein_coding					521		chr1	TogoVar
OR2M3_chr1_248192265_248217925	248213405	ATATATAT others(41): Show ATATATATATATATATATATGTATATATATATATGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03471.hp2 NA18522.hp2 HG02622.hp1 HG03471.hp2 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0013 a0001c0003 a0005c0013	a0001c0003t0049 a0001c0003t0050 a0005c0013t0047 a0001c0003t0049 a0001c0003t0050 a0005c0013t0047	a0001c0003t0049g0037 a0001c0003t0050g0022 a0005c0013t0047g0027 a0001c0003t0049g0037 a0001c0003t0050g0022 a0005c0013t0047g0027	3	410	0.0073	-48	c.94 others(59): Show c.9400_*9447delTATATATATATATATATATGTATATATATATATG TATATATATATATG		OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding					481		chr1	TogoVar
OR4M2_chr15_22075527_22086610	22084686	CATATATA others(41): Show CATATATATATACATATATATATACACACACATATATATGTATATAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(6): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG02074.hp2 NA18950.hp2 NA18966.hp2 NA18968.hp1 NA19065.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	9	50	0.1800	-48	c.31 others(59): Show c.3121_*3168delATATATATATACATATATATATACACACACATAT ATATGTATATAGAT		OR4M2	ENSG00000274102.3	transcript	ENST00000614722.3	protein_coding					3077		chr15	TogoVar
OR4N4C_chr15_21646844_21657968	21653406	AATATATT others(41): Show AATATATTTTTATATATTTATAAATATATATTTTTATATATTTATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG01069.hp1 others(53): Show HG00423.hp1 HG00639.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02257.hp2 HG02486.hp2 HG02523.hp2 HG02735.hp2 HG02738.hp1 HG02970.hp2 HG03130.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp2 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18976.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18992.hp2 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19080.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0004 a0002c0003 others(3): Show a0001c0001 a0001c0004 a0002c0003 a0003c0002 a0004c0005 a0011c0011	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0003c0002t0001 a0004c0005t0002 a0011c0011t0001	a0001c0001t0001g0000 a0001c0004t0001g0000 a0002c0003t0001g0000 others(3): Show a0001c0001t0001g0000 a0001c0004t0001g0000 a0002c0003t0001g0000 a0003c0002t0001g0000 a0004c0005t0002g0000 a0011c0011t0001g0000	56	216	0.2593	-48	c.52 others(57): Show c.522_*569delATATATTTTTATATATTTATAAATATATATTTTTAT ATATTTATAAAT		OR4N4C	ENSG00000279408.3	transcript	ENST00000623441.1	protein_coding					439		chr15	TogoVar
OR6J1_chr14_22625929_22649352	22636225	GCCCTCTC others(41): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0125 a0002c0002t0050g0125	1	362	0.0028	-48	c.-27 others(65): Show c.-27-1435_-27-1388delAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGG		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar
OR8B2_chr11_124377394_124389499	124382877	GCTCCAGC others(41): Show GCTCCAGCCAATCCCATTATGTAAGCAGCAAAAGTGAGCATAGAACAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03831.hp2 HG03831.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0024 a0011c0013t0001g0024	1	444	0.0023	-48	c.419 others(55): Show c.419_466delTCTGTTCTATGCTCACTTTTGCTGCTTACATAATGGGA TTGGCTGGAG	p.Val others(13): Show p.Val140_Gly155del	OR8B2	ENSG00000284680.3	transcript	ENST00000641451.2	protein_coding	2/2	609/1093	419/942	140/313			chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31812718	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	186	0.0054	-48	c.729 others(67): Show c.729+17274_729+17321delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OSBPL2_chr20_62233521_62301183	62278516	GTTGCCAA others(41): Show GTTGCCAACGTTAGGCCGAGTGCGATGTCATGTTTGTGTGTGTGTCTGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00609.hp1 others(93): Show HG00280.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA18980.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0018 a0001c0001t0025 a0001c0001t0028	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(89): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0005g0003 a0001c0001t0005g0012 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0180 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0015g0024 a0001c0001t0015g0200 a0001c0001t0018g0132 a0001c0001t0025g0217 a0001c0001t0028g0086	96	348	0.2759	-48	c.492 others(63): Show c.492-639_492-592delTGCCAACGTTAGGCCGAGTGCGATGTCATG TTTGTGTGTGTGTCTGTT		OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
OSCAR_chr19_54089668_54105803	54096461	TGCCTCTC others(41): Show TGCCTCTCTCTCTGCCTCCCTCTCTCTGCCTCCCTCTCTCTCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	443	0.0023	-48	c.373 others(63): Show c.373+353_374-309delGGAGGCAGAGAGAGAGGGAGGCAGAGAGAG GGAGGCAGAGAGAGAGGC		OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4						chr19	TogoVar
OSTF1_chr9_75083514_75152265	75128456	CATATATA others(41): Show CATATATATATATATTTTGTCCATATATATATATATATATTTTGTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18983.hp1 HG01361.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0246 a0001c0002t0003g0294 a0001c0002t0003g0246 a0001c0002t0003g0294	2	366	0.0055	-48	c.132 others(63): Show c.132+852_132+899delTTTGTCCATATATATATATATATATTTTGT CCATATATATATATATAT		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75128479	TATATATA others(41): Show TATATATATATATATATTTTGTCCATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	366	0.0027	-48	c.132 others(63): Show c.132+877_132+924delTTTGTCCATATATATATATATATATTTTGT CCATATATATATATATAT		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75128533	TATATATA others(41): Show TATATATATATATTTTGTCCATATATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01099.hp1 others(7): Show HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02738.hp1 HG03017.hp1 HG03831.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012	a0001c0001t0004g0002 a0001c0001t0004g0153 a0001c0001t0004g0156 others(6): Show a0001c0001t0004g0002 a0001c0001t0004g0153 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0009g0159 a0001c0001t0012g0019	10	366	0.0273	-48	c.132 others(63): Show c.132+927_132+974delTTTGTCCATATATATATATATATATATATT TTGTCCATATATATATAT		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31510809	TACATATG others(41): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03225.hp2 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0095 a0001c0002t0030 a0001c0002t0095	a0001c0002t0030g0013 a0001c0002t0095g0073 a0001c0002t0030g0013 a0001c0002t0095g0073	2	244	0.0082	-48	c.894 others(65): Show c.894-7039_894-6992delGTTACATATAGATATACATATGTATGTT ACATATAGATATACATATGT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510811	CATATGTA others(41): Show CATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACAT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0098 a0002c0003t0008g0098	1	244	0.0041	-48	c.894 others(65): Show c.894-7041_894-6994delATGTTACATATAGATATACATATGTATG TTACATATAGATATACATAT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OXR1_chr8_106265190_106757694	106405158	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATAGTGT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	172	0.0058	-48	c.23+ others(65): Show c.23+45523_23+45570delTATATATATATATATATATATATATATA TATATATATATATATAGTGT		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16						chr8	TogoVar
P2RX5_chr17_3668227_3701155	3699877	GGAAGGAA others(41): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG00735.hp1 others(4): Show HG00423.hp2 HG00639.hp1 HG00735.hp1 HG01081.hp1 NA18944.hp2 NA18994.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0096 a0001c0001t0001g0148 a0001c0001t0001g0272 others(4): Show a0001c0001t0001g0096 a0001c0001t0001g0148 a0001c0001t0001g0272 a0001c0001t0002g0323 a0002c0002t0001g0319 a0002c0002t0002g0125 a0002c0002t0002g0166	7	362	0.0193	-48	c.-39 others(59): Show c.-3920_-3873delTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding					3723		chr17	TogoVar
P2RX5_chr17_3668227_3701155	3699881	GGAAGGAA others(41): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG03486.hp1 HG00741.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0206 a0002c0002t0001g0028 a0002c0002t0001g0206	2	362	0.0055	-48	c.-39 others(59): Show c.-3924_-3877delTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding					3727		chr17	TogoVar
PABIR2_chrX_134764566_134802205	134788146	TACGTTAT others(41): Show TACGTTATATATGTGTAATATATACACGTTATATATGTGTAATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18906.hp1 homoSapiens_chm13v2.hp1 HG01192.hp1 NA18906.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0140 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0140	3	217	0.0138	-48	c.435 others(63): Show c.435+536_435+583delGTATATATTACACATATATAACGTGTATAT ATTACACATATATAACGT		PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9						chrX	TogoVar
PACSIN2_chr22_42864773_43020149	42981778	TGGGTCAG others(41): Show TGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0071 a0001c0003t0010g0071	1	294	0.0034	-48	c.-78 others(67): Show c.-78+33195_-78+33242delCCCACCTCCCTCCCGGACTGGGCGGC TGGCCGGGCGGGGGGCTGACCC		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172348	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03041.hp1 NA18522.hp1 others(1): Show HG02809.hp1 HG03041.hp1 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0069 a0001c0001t0088 a0001c0001t0032 a0001c0001t0069 a0001c0001t0088	a0001c0001t0032g0212 a0001c0001t0032g0224 a0001c0001t0069g0225 others(1): Show a0001c0001t0032g0212 a0001c0001t0032g0224 a0001c0001t0069g0225 a0001c0001t0088g0223	4	432	0.0093	-48	c.46 others(59): Show c.4650_*4697delTATATATATATATATATATATATATATATATATA TATATATATATATA		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1304		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172364	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0121 a0001c0001t0025g0121	1	432	0.0023	-48	c.46 others(59): Show c.4666_*4713delTATATATATATATATATATATATATATATATATA TATATATTTTTTTT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1320		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172370	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0114 a0001c0001t0063g0114	1	432	0.0023	-48	c.46 others(59): Show c.4672_*4719delTATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1326		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172372	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03516.hp1 HG02717.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0044 a0001c0001t0051g0045 a0001c0001t0051g0044 a0001c0001t0051g0045	2	432	0.0046	-48	c.46 others(59): Show c.4674_*4721delTATATATATATATATATATATATATATATATATT TTTTTTTTTTTTTT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1328		chr11	TogoVar
PAH_chr12_102831889_102922244	102868128	ATATATAT others(41): Show ATATATATATATATATATATATATATACACATATATATACATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp1 others(60): Show HG00140.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02698.hp1 HG02738.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp2 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19086.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0015 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0010t0001	a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0027 others(58): Show a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0209 a0001c0002t0003g0231 a0001c0002t0011g0089 a0001c0002t0015g0007 a0001c0002t0019g0035 a0001c0002t0020g0078 a0001c0002t0021g0083 a0001c0002t0022g0025 a0001c0010t0001g0001	63	312	0.2019	-48	c.442 others(65): Show c.442-1513_442-1466delCACATATATGTATATATATGTGTATATA TATATATATATATATATATA		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12						chr12	TogoVar

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