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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(37): Show TATATATATATACATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	334	0.0030	44	c.743 others(61): Show c.743+4869_743+4870insTATATATATACATATATATATATATATA TATATATATATATACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(37): Show TATATATATATATACATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02523.hp1 HG00639.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0209 a0001c0001t0002g0212	2	334	0.0060	44	c.743 others(61): Show c.743+4869_743+4870insTATATATATATACATATATATATATATA TATATATATATATACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	238	0.0042	44	c.-10 others(61): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTATATATATATAT ATATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	238	0.0042	44	c.-10 others(61): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTATATATATAT ATATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
F13A1_chr6_6139084_6325662	6321373	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02293.hp2 NA21309.hp2 HG00673.hp1 HG02293.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0005c0005t0002 a0001c0001t0001 a0002c0002t0001 a0005c0005t0002	a0001c0001t0001g0235 a0002c0002t0001g0197 a0005c0005t0002g0202 a0001c0001t0001g0235 a0002c0002t0001g0197 a0005c0005t0002g0202	3	292	0.0103	44	c.-80 others(53): Show c.-806_-805insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding		712		chr6	TogoVar
F2_chr11_46714213_46744506	46730796	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01515.hp1 HG01981.hp1 others(1): Show HG00735.hp1 HG01515.hp1 HG01981.hp1 HG03710.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0047 a0001c0004t0001g0048 a0001c0004t0001g0049 others(1): Show a0001c0004t0001g0047 a0001c0004t0001g0048 a0001c0004t0001g0049 a0001c0004t0001g0055	4	350	0.0114	44	c.165 others(63): Show c.1654+1238_1654+1239insATATATATATATATATATATATATAT ATATATATATATATGTAT	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
F7_chr13_113100791_113125685	113105036	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0069 a0002c0002t0008g0069	1	400	0.0025	44	c.-80 others(53): Show c.-806_-805insATATATATATATATATATATATATATATATATATAT ATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		754		chr13	TogoVar
F7_chr13_113100791_113125685	113105038	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0240 a0002c0002t0003g0240	1	400	0.0025	44	c.-80 others(53): Show c.-804_-803insATATATATATATATATATATATATATATATATATAT ATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAAAAA others(37): Show AAAAAAAATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	400	0.0025	44	c.-80 others(53): Show c.-802_-801insAAAAAAATATATATATATATATATATATATATATAT ATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(37): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0026 a0001c0001t0017g0026	1	190	0.0053	44	c.126 others(65): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATATATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCTC others(37): Show TCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0010 a0001c0001t0023g0010	1	190	0.0053	44	c.46- others(61): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGTGAGAG AGAGAGAGAGAGAGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCTC others(37): Show TCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 NA20805.hp1 HG01257.hp1 HG01258.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0011g0030 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0011g0030	3	190	0.0158	44	c.46- others(61): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAGAGAGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAH_chr15_80147999_80191349	80148745	A A	ACAACAAC others(37): Show ACAACAACAACAACAGACATATATATTCTGTTACCACATACTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	428	0.0023	44	c.-43 others(55): Show c.-4310_-4309insCAACAACAACAACAGACATATATATTCTGTTACC ACATACTGTT	FAH	ENSG00000103876.14	transcript	ENST00000561421.6	protein_coding		4253		chr15	TogoVar
FAM120A_chr9_93446685_93571112	93554120	T T	TACACACA others(37): Show TACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	318	0.0031	44	c.227 others(63): Show c.2275-2245_2275-2202dupACACACACACACACACACACACACAC ACACACACACACACACAC	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM13B_chr5_137932960_138038079	137966488	T T	TATATATA others(37): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0005 a0002c0006t0002g0005	1	322	0.0031	44	c.118 others(63): Show c.1180-4020_1180-4019insCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATATATATAT	FAM13B	ENSG00000031003.11	transcript	ENST00000689681.1	protein_coding	10/23			chr5	TogoVar
FAM13B_chr5_137932960_138038079	137983213	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	322	0.0031	44	c.117 others(63): Show c.1179+2043_1179+2044insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	FAM13B	ENSG00000031003.11	transcript	ENST00000689681.1	protein_coding	10/23			chr5	TogoVar
FAM13C_chr10_59241133_59367549	59286516	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18998.hp2 NA18994.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0130 a0001c0001t0002g0063 a0001c0001t0002g0130	2	204	0.0098	44	c.508 others(61): Show c.508-3070_508-3069insATATATATATATATATATATATATATAT ATATATATATATATAT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	5/13			chr10	TogoVar
FAM149A_chr4_186099704_186180337	186136936	A A	ATCTCTCT others(37): Show ATCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0049 a0002c0026t0049	a0002c0026t0049g0009 a0002c0026t0049g0009	1	390	0.0026	44	c.567 others(63): Show c.567-12214_567-12213insTTCTCTCTCTCTCTCTCTCTTTCTCT CTCTCTCTCTCTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136964	T T	TTCTCTTT others(37): Show TTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02809.hp1 HG02896.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0014 a0008c0013t0014	a0008c0013t0014g0142 a0008c0013t0014g0143 a0008c0013t0014g0142 a0008c0013t0014g0143	2	390	0.0051	44	c.567 others(63): Show c.567-12204_567-12203insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTTTCTTTCTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136992	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0039 a0008c0013t0039	a0008c0013t0039g0304 a0008c0013t0039g0304	1	390	0.0026	44	c.567 others(63): Show c.567-12166_567-12165insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTTCTCTCTCTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM161A_chr2_61819848_61859060	61823362	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18999.hp1 NA19066.hp1 NA18977.hp1 NA18999.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	3	400	0.0075	44	c.30 others(55): Show c.3092_*3093insATATATATATATATATATATATATATATATATAT ATATATATAT	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding		1485		chr2	TogoVar
FAM163A_chr1_179738291_179821198	179783782	T T	TATATAAT others(37): Show TATATAATTTATTATATATATATTATATAATTTATTATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02809.hp2 HG03041.hp1 others(1): Show HG01243.hp1 HG02809.hp2 HG03041.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0025 a0001c0001t0009 a0001c0001t0025	a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0009g0176 others(1): Show a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0009g0176 a0001c0001t0025g0181	4	226	0.0177	44	c.-13 others(65): Show c.-135-23999_-135-23998insTATATTATATAATTTATTATATAT ATAATATAATTTATTATATA	FAM163A	ENSG00000143340.7	transcript	ENST00000341785.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM184A_chr6_118954763_119083664	118969993	A A	ATAAAATA others(37): Show ATAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG03041.hp1 others(1): Show HG01168.hp2 HG01169.hp1 HG03041.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0105 a0001c0001t0001g0227	4	286	0.0140	44	c.291 others(63): Show c.2916-3042_2916-3041insATATATATATATATATATATATATAT ATATATATATATATTTTA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03017.hp1 NA19077.hp1 HG02080.hp2 HG03017.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0190 a0001c0001t0001g0247 a0001c0001t0001g0261	3	286	0.0105	44	c.291 others(63): Show c.2916-3057_2916-3056insAAAAAATATATATATATATATATATA TATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02698.hp2 HG04115.hp2 HG02071.hp1 HG02698.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0235 a0001c0001t0001g0271 a0001c0001t0001g0192 a0001c0001t0001g0235 a0001c0001t0001g0271	3	286	0.0105	44	c.291 others(63): Show c.2916-3057_2916-3056insAAAAAAAAAATATATATATATATATA TATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	286	0.0035	44	c.291 others(63): Show c.2916-3057_2916-3056insAAAAAAAAAAAATATATATATATATA TATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02132.hp1 HG02148.hp1 others(7): Show HG01192.hp2 HG02132.hp1 HG02148.hp1 HG03490.hp2 HG03492.hp1 NA18953.hp2 NA18968.hp1 NA18973.hp1 NA19065.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0041 others(7): Show a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0304	10	332	0.0301	44	c.650 others(63): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCCTTCTCTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18995.hp1 HG03209.hp1 NA18995.hp1	a0001 a0029 a0001 a0029	a0001c0001 a0029c0025 a0001c0001 a0029c0025	a0001c0001t0001 a0029c0025t0001 a0001c0001t0001 a0029c0025t0001	a0001c0001t0001g0095 a0029c0025t0001g0243 a0001c0001t0001g0095 a0029c0025t0001g0243	2	332	0.0060	44	c.650 others(63): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTT CCTTCTCTCTCTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02572.hp1 HG02723.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0004 a0007c0007t0003 a0003c0003t0004 a0007c0007t0003	a0003c0003t0004g0155 a0007c0007t0003g0111 a0003c0003t0004g0155 a0007c0007t0003g0111	2	330	0.0061	44	c.502 others(61): Show c.502-7999_502-7998insATATATATATATATATATATATATATAT ATATATTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0108 a0007c0007t0003g0108	1	330	0.0030	44	c.502 others(61): Show c.502-7999_502-7998insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193B_chr5_177514789_177559563	177554489	A A	ACGCCGCG others(37): Show ACGCCGCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01346.hp2 HG02027.hp1 HG01346.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0054 a0001c0001t0053 a0001c0001t0054	a0001c0001t0053g0260 a0001c0001t0054g0261 a0001c0001t0053g0260 a0001c0001t0054g0261	2	370	0.0054	44	c.-32 others(51): Show c.-32_-31insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GCGGCG	FAM193B	ENSG00000146067.17	transcript	ENST00000514747.6	protein_coding	1/9	32		chr5	TogoVar
FANCD2_chr3_10021437_10106932	10069493	C C	CTCCCCCT others(37): Show CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCACG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02622.hp1 others(3): Show HG01891.hp1 HG02257.hp2 HG02622.hp1 HG02976.hp1 HG03098.hp1 HG03516.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 others(3): Show a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 a0003c0004t0003g0164 a0003c0004t0003g0165 a0003c0004t0003g0168	6	242	0.0248	44	c.249 others(63): Show c.2494+2176_2494+2177insTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCTCCACG	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43			chr3	TogoVar
FANK1_chr10_125891564_126014592	125914280	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA20300.hp2 NA18998.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0365 a0001c0001t0001g0047 a0001c0001t0001g0365	2	370	0.0054	44	c.13+ others(61): Show c.13+17637_13+17638insATATATATATATATATATATATATATAT ATATATATATATATAT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(37): Show AACACACACACACACACACACACAGACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00673.hp1 others(32): Show HG00544.hp1 HG00558.hp2 HG00673.hp1 HG01123.hp1 HG01257.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02523.hp1 HG03491.hp1 HG03540.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp1 NA18957.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19060.hp1 NA19062.hp1 NA19082.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0025 a0001c0001t0029 a0001c0001t0047 a0001c0001t0054 a0001c0001t0057 a0001c0001t0064 a0001c0001t0070 a0001c0001t0080 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0012 a0001c0002t0077 a0001c0005t0002 a0001c0005t0040 a0001c0006t0002	a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0004g0197 others(32): Show a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0004g0197 a0001c0001t0005g0031 a0001c0001t0005g0046 a0001c0001t0005g0052 a0001c0001t0005g0078 a0001c0001t0007g0136 a0001c0001t0007g0147 a0001c0001t0014g0076 a0001c0001t0014g0093 a0001c0001t0014g0099 a0001c0001t0014g0116 a0001c0001t0025g0030 a0001c0001t0029g0214 a0001c0001t0047g0139 a0001c0001t0054g0182 a0001c0001t0057g0073 a0001c0001t0064g0026 a0001c0001t0070g0075 a0001c0001t0080g0098 a0001c0002t0001g0028 a0001c0002t0001g0047 a0001c0002t0001g0067 a0001c0002t0001g0083 a0001c0002t0001g0095 a0001c0002t0002g0065 a0001c0002t0006g0060 a0001c0002t0006g0066 a0001c0002t0006g0108 a0001c0002t0012g0186 a0001c0002t0077g0077 a0001c0005t0002g0055 a0001c0005t0040g0175 a0001c0006t0002g0100	35	218	0.1606	44	c.141 others(63): Show c.1414+5962_1414+5963insGACACACACACACACACACACACACA CACACACACACACACACA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(37): Show AACACACACACACACACACACAGACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	218	0.0046	44	c.141 others(63): Show c.1414+5960_1414+5961insGACACACACACACACACACACACACA CACACACACACACACACA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARS2_chr6_5256513_5776583	5315717	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02055.hp2 HG02647.hp2 others(2): Show HG00558.hp1 HG02055.hp2 HG02647.hp2 HG02809.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0002g0135 a0002c0002t0001g0084	5	170	0.0294	44	c.-21 others(63): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTTCTTTCTTCCT TTCTTTCTTTCTTTCTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5315726	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01978.hp1 HG01978.hp2 others(6): Show HG00642.hp1 HG01978.hp1 HG01978.hp2 NA18942.hp2 NA18955.hp1 NA18962.hp2 NA18999.hp1 NA19082.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0002g0136 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0161 a0002c0002t0001g0019 a0002c0002t0001g0031	9	170	0.0529	44	c.-21 others(63): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTTTCTTTCTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0112 a0001c0001t0002g0114	2	170	0.0118	44	c.905 others(61): Show c.905-5795_905-5794insGTATATATATATATATATATATATATAT ATATATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03704.hp1 HG01255.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0125 a0001c0001t0002g0110 a0001c0001t0002g0125	2	170	0.0118	44	c.905 others(61): Show c.905-5795_905-5794insGTGTATATATATATATATATATATATAT ATATATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASTKD1_chr2_169523508_169578865	169561748	A A	ATAAATTA others(37): Show ATAAATTATTTATTAATTTATTATAAATTATTTATTAATTTATTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00639.hp1 others(94): Show HG00323.hp1 HG00423.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01943.hp1 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03239.hp2 HG03471.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18970.hp2 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0010 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0010 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0004t0001	a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 others(90): Show a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0010g0179 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0002g0312 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0331 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0348 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0002g0353 a0002c0002t0002g0354 a0002c0002t0002g0355 a0002c0002t0002g0356 a0002c0002t0002g0357 a0002c0002t0002g0358 a0002c0002t0002g0359 a0002c0002t0002g0360 a0002c0002t0002g0366 a0002c0002t0002g0367 a0002c0002t0002g0368 a0002c0002t0003g0013 a0002c0002t0003g0371 a0002c0002t0003g0372 a0002c0002t0003g0373 a0002c0002t0003g0374 a0002c0002t0003g0375 a0002c0002t0003g0376 a0002c0002t0003g0377 a0002c0002t0003g0378 a0002c0002t0009g0014 a0002c0004t0001g0001 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0032 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0043 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0062 a0002c0004t0001g0063 a0002c0004t0001g0092	97	392	0.2475	44	c.573 others(59): Show c.573-964_573-963insCAATAAATTAATAAATAATTTATAATAAAT TAATAAATAATTTA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FASTKD1_chr2_169523508_169578865	169561748	A A	ATAAATTA others(37): Show ATAAATTATTTATTAATTTATTGTAAATTATTTATTAATTTATTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG02080.hp2 others(20): Show HG00099.hp1 HG00609.hp1 HG02080.hp2 HG02132.hp1 HG02559.hp2 HG02723.hp2 HG03098.hp2 HG03195.hp1 HG03486.hp1 HG03688.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18952.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19062.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0006 a0003c0005 others(1): Show a0001c0001 a0001c0006 a0003c0005 a0004c0008	a0001c0001t0001 a0001c0006t0001 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0003c0005t0001 a0004c0008t0001	a0001c0001t0001g0123 a0001c0001t0001g0217 a0001c0001t0001g0227 others(20): Show a0001c0001t0001g0123 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0285 a0001c0006t0001g0302 a0001c0006t0001g0316 a0001c0006t0001g0317 a0001c0006t0001g0318 a0003c0005t0001g0286 a0003c0005t0001g0288 a0003c0005t0001g0289 a0003c0005t0001g0291 a0003c0005t0001g0292 a0003c0005t0001g0293 a0003c0005t0001g0294 a0003c0005t0001g0295 a0003c0005t0001g0296 a0003c0005t0001g0298 a0003c0005t0001g0299 a0003c0005t0001g0301 a0004c0008t0001g0271 a0004c0008t0001g0272 a0004c0008t0001g0273	23	392	0.0587	44	c.573 others(60): Show c.573-1007_573-964dupCAATAAATTAATAAATAATTTACAATAAA TTAATAAATAATTTA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FASTKD1_chr2_169523508_169578865	169561844	T T	TTTATTAA others(37): Show TTTATTAATTTATTGTAAATTATTTATTAATTTATTGTAAAATAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0281 a0003c0005t0001g0281	1	392	0.0026	44	c.573 others(61): Show c.573-1060_573-1059insTTATTTTACAATAAATTAATAAATAATT TACAATAAATTAATAA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FAT2_chr5_151499092_151596331	151534970	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19068.hp2 NA19083.hp2 others(2): Show HG02015.hp1 NA19068.hp2 NA19083.hp2 NA19087.hp2 NA19090.hp2	a0002 a0007 a0009 others(1): Show a0002 a0007 a0009 a0016	a0002c0008 a0007c0023 a0007c0045 others(2): Show a0002c0008 a0007c0023 a0007c0045 a0009c0007 a0016c0042	a0002c0008t0029 a0007c0023t0003 a0007c0045t0003 others(2): Show a0002c0008t0029 a0007c0023t0003 a0007c0045t0003 a0009c0007t0001 a0016c0042t0006	a0002c0008t0029g0246 a0007c0023t0003g0258 a0007c0045t0003g0153 others(2): Show a0002c0008t0029g0246 a0007c0023t0003g0258 a0007c0045t0003g0153 a0009c0007t0001g0194 a0016c0042t0006g0383	5	398	0.0126	44	c.919 others(61): Show c.9194-329_9194-328insATATATATATATATATATATATATATAT ATATATATATATATAT	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23			chr5	TogoVar
FAT2_chr5_151499092_151596331	151540345	T T	TTTCTCCT others(37): Show TTTCTCCTGCCCCTCACTCTCTGTTCTCCTGCCCCTCAATCTCCC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0006 a0006c0005t0006	a0006c0005t0006g0364 a0006c0005t0006g0364	1	398	0.0025	44	c.903 others(61): Show c.9039+178_9039+221dupGGGAGATTGAGGGGCAGGAGAACAGAGA GTGAGGGGCAGGAGAA	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	11/23			chr5	TogoVar
FAT3_chr11_92219818_92901473	92412734	T T	TACACATA others(37): Show TACACATATATATATATATATATACACATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0005 a0003c0011t0005	a0003c0011t0005g0053 a0003c0011t0005g0053	1	118	0.0085	44	c.329 others(65): Show c.3292+57331_3292+57332insCACATATATATATATATATATACA CATATATATATATACACACA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92500768	C C	CTCCAGGC others(37): Show CTCCAGGCAATACAGCAATAACTTGAGGTGCCTAGGGCTGCTGTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0011 a0001c0025t0011	a0001c0025t0011g0076 a0001c0025t0011g0076	1	118	0.0085	44	c.329 others(65): Show c.3293-23864_3293-23821dupCCAGGCAATACAGCAATAACTTGA GGTGCCTAGGGCTGCTGTGT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0039 a0008c0039	a0008c0039t0030 a0008c0039t0030	a0008c0039t0030g0104 a0008c0039t0030g0104	1	118	0.0085	44	c.367 others(63): Show c.3670-8057_3670-8056insGTATATATATATATATATATATATAT ATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(37): Show GTGTGTGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0018 a0018	a0018c0082 a0018c0082	a0018c0082t0072 a0018c0082t0072	a0018c0082t0072g0013 a0018c0082t0072g0013	1	118	0.0085	44	c.367 others(63): Show c.3670-8057_3670-8056insGTGTGTGTATATATATATATATATAT ATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02683.hp1 HG03098.hp1 others(3): Show HG02145.hp1 HG02683.hp1 HG03098.hp1 NA18986.hp2 NA19030.hp1 NA19030.hp2	a0007 a0010 a0026 others(2): Show a0007 a0010 a0026 a0029 a0042	a0007c0008 a0007c0043 a0010c0073 others(3): Show a0007c0008 a0007c0043 a0010c0073 a0026c0040 a0029c0055 a0042c0061	a0007c0008t0010 a0007c0043t0048 a0010c0073t0028 others(3): Show a0007c0008t0010 a0007c0043t0048 a0010c0073t0028 a0026c0040t0002 a0029c0055t0075 a0042c0061t0001	a0007c0008t0010g0067 a0007c0043t0048g0035 a0010c0073t0028g0052 others(3): Show a0007c0008t0010g0067 a0007c0043t0048g0035 a0010c0073t0028g0052 a0026c0040t0002g0115 a0029c0055t0075g0023 a0042c0061t0001g0039	6	118	0.0509	44	c.367 others(63): Show c.3670-8057_3670-8056insGTGTGTGTGTATATATATATATATAT ATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBN2_chr5_128252909_128543245	128434394	G G	GTATATAT others(37): Show GTATATATATATATGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03579.hp1 HG02895.hp1 HG03579.hp1	a0002 a0003 a0002 a0003	a0002c0023 a0003c0007 a0002c0023 a0003c0007	a0002c0023t0007 a0003c0007t0005 a0002c0023t0007 a0003c0007t0005	a0002c0023t0007g0121 a0003c0007t0005g0052 a0002c0023t0007g0121 a0003c0007t0005g0052	2	236	0.0085	44	c.952 others(63): Show c.952+12086_952+12087insTATATATATATATATATATATATATA TATACATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64			chr5	TogoVar

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