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
GRAMD1C_chr3_113833788_113952174	113911696	T T	TTTCCTTC others(26): Show TTTCCTTCCTTCCTTCCTTCTTTCTCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG01070.hp1 others(33): Show HG00099.hp1 HG00438.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG01943.hp2 HG02027.hp1 HG02080.hp1 HG02165.hp1 HG02293.hp1 HG02486.hp1 HG03017.hp2 HG03491.hp2 HG03710.hp1 HG03942.hp2 HG04228.hp2 NA18747.hp1 NA18906.hp2 NA18950.hp1 NA18960.hp1 NA18964.hp1 NA18968.hp2 NA18972.hp1 NA18980.hp2 NA18982.hp1 NA18990.hp1 NA18998.hp1 NA19057.hp1 NA19081.hp1 NA19085.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0017 a0001c0002t0003 a0001c0003t0002 a0001c0003t0007 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0002c0006t0024 a0002c0006t0025	a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0219 others(33): Show a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0002g0257 a0001c0001t0002g0303 a0001c0001t0012g0300 a0001c0001t0017g0259 a0001c0002t0003g0024 a0001c0002t0003g0037 a0001c0002t0003g0074 a0001c0002t0003g0095 a0001c0002t0003g0321 a0001c0003t0002g0119 a0001c0003t0002g0204 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0230 a0001c0003t0007g0242 a0001c0004t0002g0137 a0001c0004t0002g0139 a0001c0004t0004g0058 a0001c0004t0004g0076 a0001c0004t0005g0027 a0001c0004t0005g0028 a0001c0004t0005g0032 a0001c0004t0005g0033 a0001c0004t0005g0035 a0001c0004t0005g0044 a0002c0006t0024g0133 a0002c0006t0025g0130	36	324	0.1111	33	c.952 others(50): Show c.952+2595_952+2596insTTTCTCTTCCTTCCTTCCTTCCTTCCTT CCTTC	GRAMD1C	ENSG00000178075.20	transcript	ENST00000358160.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
GREM1_chr15_32713004_32750106	32713308	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0003 a0001c0001t0038g0003	1	421	0.0024	33	c.-48 others(44): Show c.-4855_-4854insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GREM1	ENSG00000166923.12	transcript	ENST00000651154.1	protein_coding		4695		chr15	TogoVar
GRHL3_chr1_24314357_24360318	24345181	T T	TACACCTG others(26): Show TACACCTGTGCCCCTCCACACCTGTGCCCCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18943.hp2 NA18997.hp2 HG02027.hp2 NA18943.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0167 a0001c0002t0001g0172 a0001c0002t0001g0102 a0001c0002t0001g0167 a0001c0002t0001g0172	3	372	0.0081	33	c.145 others(50): Show c.1454+263_1454+264insTCCACACCTGTGCCCCCTCCACACCTGT GCCCC	GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRHL3_chr1_24314357_24360318	24345198	T T	TACACCTG others(26): Show TACACCTGTGCCCCCTCCACACCTGTGCGCCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG01891.hp1 others(13): Show HG00639.hp1 HG01884.hp2 HG01891.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG06807.hp2	a0002 a0002	a0002c0004 a0002c0022 a0002c0004 a0002c0022	a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 others(1): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0022t0002	a0002c0004t0001g0009 a0002c0004t0001g0043 a0002c0004t0002g0003 others(6): Show a0002c0004t0001g0009 a0002c0004t0001g0043 a0002c0004t0002g0003 a0002c0004t0002g0082 a0002c0004t0002g0083 a0002c0004t0002g0084 a0002c0004t0002g0289 a0002c0004t0003g0293 a0002c0022t0002g0085	16	372	0.0430	33	c.145 others(50): Show c.1454+295_1454+327dupGCCTCCACACCTGTGCCCCCTCCACACC TGTGC	GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRIA1_chr5_153485670_153818869	153566304	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 HG01358.hp1 others(2): Show HG01109.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0045 a0001c0001t0001g0100 a0001c0001t0001g0148 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0100 a0001c0001t0001g0148 a0001c0001t0002g0042 a0001c0001t0010g0152	5	194	0.0258	33	c.220 others(52): Show c.220+72255_220+72256insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	GRIA1	ENSG00000155511.19	transcript	ENST00000285900.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
GRIA3_chrX_123179278_123495915	123260467	A A	AGGAAGGA others(26): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02015.hp1 NA18977.hp1 others(3): Show HG01496.hp1 HG02015.hp1 NA18977.hp1 NA19030.hp2 NA19043.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0035 a0001c0001t0003g0132 a0001c0001t0011g0082 others(3): Show a0001c0001t0001g0035 a0001c0001t0003g0132 a0001c0001t0011g0082 a0001c0002t0003g0093 a0001c0002t0003g0190 a0001c0002t0006g0133	6	207	0.0290	33	c.508 others(50): Show c.508+6926_508+6927insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGG	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIA3_chrX_123179278_123495915	123260491	A A	AGGAAGGA others(26): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	207	0.0048	33	c.508 others(50): Show c.508+6950_508+6951insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGG	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRID1_chr10_85594552_86371795	85599802	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0023 a0002c0005t0023	a0002c0005t0023g0081 a0002c0005t0023g0081	1	96	0.0104	33	c.24 others(44): Show c.2470_*2471insATATATATATATATATATATATATATATATATT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	16/16	2470		chr10	TogoVar
GRID2_chr4_92298966_93779566	93471698	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0029 a0001c0005t0002g0029	1	34	0.0294	33	c.185 others(54): Show c.1858+15741_1858+15742insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIK1_chr21_29531933_29944996	29734356	C C	CTTTTCTT others(26): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0127	1	162	0.0062	33	c.119 others(52): Show c.119-40326_119-40294dupAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAA	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29888161	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	162	0.0062	33	c.118 others(52): Show c.118+51221_118+51222insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIN2A_chr16_9748408_10187428	10039808	G G	GAGAGAGA others(26): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0057 a0001c0002t0012g0057	1	168	0.0060	33	c.415 others(54): Show c.415-101258_415-101257insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	2/12			chr16	TogoVar
GRIN2B_chr12_13532337_13986602	13954811	G G	GAAAAAAA others(26): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG04184.hp1 NA19011.hp2 others(1): Show HG02293.hp2 HG04184.hp1 NA19011.hp2 NA20129.hp1	a0001 a0001	a0001c0014 a0001c0015 a0001c0018 others(1): Show a0001c0014 a0001c0015 a0001c0018 a0001c0019	a0001c0014t0090 a0001c0015t0116 a0001c0018t0035 others(1): Show a0001c0014t0090 a0001c0015t0116 a0001c0018t0035 a0001c0019t0018	a0001c0014t0090g0022 a0001c0015t0116g0171 a0001c0018t0035g0001 others(1): Show a0001c0014t0090g0022 a0001c0015t0116g0171 a0001c0018t0035g0001 a0001c0019t0018g0023	4	194	0.0206	33	c.-19 others(52): Show c.-19+25116_-19+25117insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	2/13			chr12	TogoVar
GRK2_chr11_67261473_67291556	67274495	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	302	0.0033	33	c.114 others(50): Show c.114-2750_114-2749insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	GRK2	ENSG00000173020.11	transcript	ENST00000308595.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRK5_chr10_119202571_119464745	119313031	A A	AGTGGTGA others(26): Show AGTGGTGATGGTGGTGGTGGTAATGATGATGGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp2 HG02280.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0033 a0001c0004t0001 a0001c0001t0033 a0001c0004t0001	a0001c0001t0033g0023 a0001c0004t0001g0196 a0001c0001t0033g0023 a0001c0004t0001g0196	2	202	0.0099	33	c.53- others(50): Show c.53-13464_53-13432dupAATGATGATGGTGGTGGTGATGGTGGTG GTGGT	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GRM7_chr3_6856115_7746533	6998119	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	80	0.0125	33	c.519 others(54): Show c.519+136232_519+136233insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7261902	C C	CTCCCTCC others(26): Show CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03831.hp2 HG03471.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0003 a0001c0004t0004g0043 a0001c0001t0001g0003 a0001c0004t0004g0043	2	80	0.0250	33	c.737 others(52): Show c.737-36769_737-36768insCCCTCCCTTCCTCCCTTCCTTCCCTC CCTCCCT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7735399	G G	GGTGCTTT others(26): Show GGTGCTTTATAATCAAGTACATTTGAGGAACAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	80	0.0125	33	c.269 others(52): Show c.2699-4954_2699-4953insTTTATAATCAAGTACATTTGAGGAAC AGAGTGC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7735399	G G	GGTGCTTT others(26): Show GGTGCTTTATAATCAAGTACATTTGAGGAACTGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01069.hp2 others(38): Show HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01884.hp2 HG01978.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0002c0007 a0002c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0005t0003 a0001c0008t0002 a0001c0008t0003 a0001c0010t0002 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0001c0015t0009 a0002c0007t0003 a0002c0019t0003	a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0051 others(38): Show a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0051 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0063 a0001c0001t0005g0055 a0001c0001t0005g0072 a0001c0001t0006g0010 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0030 a0001c0002t0003g0017 a0001c0002t0003g0060 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0006g0014 a0001c0003t0002g0019 a0001c0003t0002g0044 a0001c0003t0002g0056 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0005g0015 a0001c0004t0002g0013 a0001c0004t0003g0054 a0001c0004t0003g0058 a0001c0004t0003g0079 a0001c0004t0004g0008 a0001c0004t0004g0043 a0001c0005t0003g0039 a0001c0008t0002g0020 a0001c0008t0003g0016 a0001c0010t0002g0077 a0001c0011t0002g0078 a0001c0012t0002g0073 a0001c0014t0002g0011 a0001c0015t0009g0045 a0002c0007t0003g0075 a0002c0019t0003g0036	41	80	0.5125	33	c.269 others(52): Show c.2699-4954_2699-4953insTTTATAATCAAGTACATTTGAGGAAC TGAGTGC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM8_chr7_126433598_127257941	126722965	A A	AATATATA others(26): Show AATATATAATTTACATATATTATATATAATTTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02723.hp1 others(7): Show HG02145.hp2 HG02559.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001 a0003c0003t0001	a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0090 others(7): Show a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0002g0078 a0001c0001t0005g0073 a0001c0005t0001g0063 a0003c0003t0001g0044 a0003c0003t0001g0054 a0003c0003t0001g0100 a0003c0003t0001g0101	10	108	0.0926	33	c.135 others(54): Show c.1357+46867_1357+46899dupATAAATTATATATAATATATGTAA ATTATATAT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	7/10			chr7	TogoVar
GRP_chr18_59215158_59235771	59233889	A A	ATATATAT others(26): Show ATATATATCATGTTATATGATATATATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02647.hp2 others(7): Show HG01243.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03471.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(4): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167	10	408	0.0245	33	c.34 others(44): Show c.3421_*3422insTATATATCATGTTATATGATATATATTATATAT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3119		chr18	TogoVar
GRP_chr18_59215158_59235771	59233918	T T	TATATATT others(26): Show TATATATTATATATCATATGTTATATGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03579.hp1 HG02630.hp1 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0145 a0004c0005t0001g0170 a0001c0001t0001g0145 a0004c0005t0001g0170	2	408	0.0049	33	c.34 others(44): Show c.3450_*3451insATATATTATATATCATATGTTATATGATATATA	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3148		chr18	TogoVar
GRP_chr18_59215158_59235771	59233937	G G	GTTATATG others(26): Show GTTATATGATATATAATATATTATATATAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(71): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02145.hp2 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19012.hp1 NA19056.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(48): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0002c0002t0001g0070	74	408	0.1814	33	c.34 others(44): Show c.3469_*3470insTTATATGATATATAATATATTATATATAATATA	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3167		chr18	TogoVar
GRP_chr18_59215158_59235771	59234087	T T	TATTATAT others(26): Show TATTATATATATATTATATATACTATATAGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	408	0.0025	33	c.36 others(44): Show c.3619_*3620insATTATATATATATTATATATACTATATAGTATA	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3317		chr18	TogoVar
GRP_chr18_59215158_59235771	59234136	T T	TATACCAT others(26): Show TATACCATGGTATATATAATATAACATATTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 NA19088.hp1 HG01192.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0037 a0002c0002t0001g0007 a0002c0002t0001g0037	2	408	0.0049	33	c.36 others(44): Show c.3668_*3669insATACCATGGTATATATAATATAACATATTATAC	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3366		chr18	TogoVar
GRWD1_chr19_48440983_48462022	48461550	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0011 a0001c0002t0029g0011	1	434	0.0023	33	c.85 others(44): Show c.8525_*8526insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	GRWD1	ENSG00000105447.13	transcript	ENST00000253237.10	protein_coding		4529		chr19	TogoVar
GSE1_chr16_85608322_85681200	85653289	C C	CCTCCTCC others(26): Show CCTCCTCCTCCTCCTCCTCCTACCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA20752.hp2 HG00323.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0157 a0001c0002t0001g0057 a0001c0002t0001g0157	2	290	0.0069	33	c.427 others(48): Show c.427-988_427-987insTCCTCCTCCTCCTCCTCCTACCCCCTCCTC CTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSTP1_chr11_67578812_67591653	67583377	A A	AATAATAA others(26): Show AATAATAAAATAAAATAAAATAAAAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA19074.hp1 HG02056.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	2	392	0.0051	33	c.-46 others(42): Show c.-467_-466insATAATAAAATAAAATAAAATAAAAAAATAAAAT	GSTP1	ENSG00000084207.18	transcript	ENST00000398606.10	protein_coding		434		chr11	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	210	0.0048	33	c.305 others(52): Show c.305-16199_305-16198insAAAAAAATATATATATATATATATAT ATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45228283	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03516.hp2 others(1): Show HG02896.hp1 HG02897.hp1 HG03516.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0086 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0091	4	210	0.0191	33	c.386 others(52): Show c.386+20794_386+20795insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158169380	A A	ATATATAT others(26): Show ATATATATAATATGTATATTATATATATAATATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0197 a0001c0001t0099g0197	1	384	0.0026	33	c.-35 others(48): Show c.-35+990_-35+991insATAATATGTATATTATATATATAATATGTA TAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	174	0.0058	33	c.-5- others(48): Show c.-5-9024_-5-9023insAAAAAAAAAAAAAAATATATATATATATAT ATA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	174	0.0058	33	c.-5- others(48): Show c.-5-9024_-5-9023insAAAAAAAAAAAAATATATATATATATATAT ATA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTPBP4_chr10_983434_1024932	1015381	T T	TCTGAGCC others(26): Show TCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01169.hp1 HG02080.hp2 others(19): Show HG00621.hp1 HG01169.hp1 HG02080.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02970.hp2 HG03927.hp1 HG04199.hp2 NA18943.hp1 NA18960.hp1 NA18973.hp1 NA18995.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0019 a0001c0001t0029 others(2): Show a0001c0001t0004 a0001c0001t0019 a0001c0001t0029 a0001c0001t0032 a0002c0003t0008	a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0038 others(15): Show a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0038 a0001c0001t0004g0156 a0001c0001t0004g0196 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0277 a0001c0001t0004g0298 a0001c0001t0019g0012 a0001c0001t0019g0172 a0001c0001t0029g0183 a0001c0001t0032g0005 a0002c0003t0008g0089	22	370	0.0595	33	c.160 others(50): Show c.1609-359_1609-358insCGGGGCTGGGGTCCTGAGCGCTGAGCCT GGGAG	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015399	C C	CCTGGGGT others(26): Show CCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02486.hp1 others(3): Show HG01884.hp2 HG01891.hp1 HG02486.hp1 HG02630.hp1 HG02976.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0015 a0001c0002t0012 a0001c0002t0015	a0001c0002t0012g0100 a0001c0002t0012g0102 a0001c0002t0012g0103 others(2): Show a0001c0002t0012g0100 a0001c0002t0012g0102 a0001c0002t0012g0103 a0001c0002t0015g0041 a0001c0002t0015g0305	6	370	0.0162	33	c.160 others(50): Show c.1609-326_1609-325insCGGGGCTGGGGTCCTGAGCGCTGAGCCT GGGAG	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015432	C C	CCTGGGGT others(26): Show CCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp1 others(64): Show HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01099.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02132.hp2 HG02148.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02970.hp1 HG03139.hp2 HG03491.hp1 HG03834.hp1 HG04204.hp2 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19012.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19080.hp2 NA19083.hp1 NA19090.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0008c0013 a0009c0011	a0001c0001t0002 a0001c0002t0002 a0001c0002t0014 others(7): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0014 a0001c0002t0025 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0012t0002 a0008c0013t0002 a0009c0011t0014	a0001c0001t0002g0278 a0001c0002t0002g0001 a0001c0002t0002g0004 others(53): Show a0001c0001t0002g0278 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0042 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0164 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0014g0004 a0001c0002t0014g0115 a0001c0002t0025g0022 a0001c0002t0039g0070 a0001c0002t0040g0165 a0001c0002t0041g0121 a0001c0012t0002g0169 a0008c0013t0002g0133 a0009c0011t0014g0118	67	370	0.1811	33	c.160 others(50): Show c.1609-307_1609-306insTCTGAGCCTGGGAGCGGGGCTGGGGTCC TGAGC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015513	T T	TCTGAGCC others(26): Show TCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0288 a0001c0001t0031g0288	1	370	0.0027	33	c.160 others(50): Show c.1609-227_1609-226insTGGACCTGGGGTCCTGAGCGCTGAGCCT GGGAG	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015564	G G	GCTGGGGT others(26): Show GCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	370	0.0027	33	c.160 others(50): Show c.1609-161_1609-160insTGGACCTGGGGTCCTGAGCGCTGAGCCT GGGAG	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015645	G G	GCTGAGCC others(26): Show GCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(167): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp1 NA19080.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0004c0005 a0010c0008	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(16): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0002t0001 a0001c0002t0005 a0001c0002t0037 a0001c0002t0047 a0001c0002t0048 a0001c0002t0050 a0001c0009t0034 a0004c0005t0018 a0010c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 others(146): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0009g0032 a0001c0001t0009g0174 a0001c0001t0009g0220 a0001c0001t0009g0282 a0001c0001t0010g0029 a0001c0001t0010g0201 a0001c0001t0010g0261 a0001c0001t0010g0297 a0001c0001t0011g0177 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0011g0280 a0001c0001t0021g0235 a0001c0001t0021g0296 a0001c0001t0022g0006 a0001c0001t0026g0195 a0001c0001t0028g0258 a0001c0001t0030g0227 a0001c0001t0033g0267 a0001c0002t0001g0190 a0001c0002t0005g0014 a0001c0002t0005g0015 a0001c0002t0005g0016 a0001c0002t0005g0017 a0001c0002t0005g0058 a0001c0002t0005g0059 a0001c0002t0005g0060 a0001c0002t0005g0061 a0001c0002t0005g0063 a0001c0002t0005g0065 a0001c0002t0005g0066 a0001c0002t0005g0067 a0001c0002t0005g0068 a0001c0002t0005g0069 a0001c0002t0037g0082 a0001c0002t0047g0062 a0001c0002t0048g0016 a0001c0002t0050g0064 a0001c0009t0034g0184 a0004c0005t0018g0188 a0004c0005t0018g0271 a0010c0008t0001g0264	170	370	0.4595	33	c.160 others(50): Show c.1609-102_1609-101insCTGGGAGCGGGGCTGGGGTCCTGAGCTC TGAGC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1024921	G G	GTCTCTCT others(26): Show GTCTCTCTGAACGGGAAATCTTGGGTACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	370	0.0027	33	c.76 others(44): Show c.7694_*7695insTCTCTCTGAACGGGAAATCTTGGGTACATACAT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding		4990		chr10	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02027.hp2 HG02896.hp2 others(1): Show HG00642.hp1 HG02027.hp2 HG02896.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0035 a0001c0001t0038 a0001c0001t0004 a0001c0001t0035 a0001c0001t0038	a0001c0001t0004g0042 a0001c0001t0004g0065 a0001c0001t0035g0172 others(1): Show a0001c0001t0004g0042 a0001c0001t0004g0065 a0001c0001t0035g0172 a0001c0001t0038g0092	4	256	0.0156	33	c.199 others(54): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GULP1_chr2_188286874_188600926	188419259	T T	TGTTTGAG others(26): Show TGTTTGAGAAACCTCTGTACTTTCATCCGTAATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0114 a0001c0001t0016g0114	1	162	0.0062	33	c.-45 others(52): Show c.-45+35372_-45+35404dupTTTGAGAAACCTCTGTACTTTCATCC GTAATGG	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GYG2_chrX_2823930_2887818	2846056	T T	TATACACA others(26): Show TATACACACACACATATATATACACATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02896.hp2 others(2): Show HG02572.hp1 HG02630.hp2 HG02896.hp2 HG02970.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0005 others(1): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006	a0001c0001t0001g0133 a0002c0002t0003g0132 a0002c0002t0005g0016 others(2): Show a0001c0001t0001g0133 a0002c0002t0003g0132 a0002c0002t0005g0016 a0002c0002t0006g0017 a0002c0002t0006g0134	5	316	0.0158	33	c.149 others(50): Show c.149+2702_149+2703insATACACACACACATATATATACACATAT ATATA	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10			chrX	TogoVar
GZMM_chr19_539053_554922	551670	T T	TTCTCTTT others(26): Show TTCTCTTTCCCTCCCTTCCCCTTCTTCTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02109.hp2 NA18952.hp2 HG01255.hp2 HG02109.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0137 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0137	3	398	0.0075	33	c.18 others(44): Show c.1879_*1880insTCTCTTTCCCTCCCTTCCCCTTCTTCTCTTTCC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		1749		chr19	TogoVar
H1-8_chr3_129538175_129556467	129543415	T T	TACCCAGC others(26): Show TACCCAGCACCCACCCAGCACTCACCCAGCACTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	422	0.0024	33	c.88+ others(46): Show c.88+130_88+162dupTCACCCAGCACTCACCCAGCACCCACCCAGCA C	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
H2AC8_chr6_26211921_26222437	26218343	T T	TTGAGCAG others(26): Show TTGAGCAGGAACAAGGACAGCTGGCAATACAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	362	0.0028	33	c.97 others(42): Show c.976_*977insTGAGCAGGAACAAGGACAGCTGGCAATACAAGC	H2AC8	ENSG00000277075.3	transcript	ENST00000303910.5	protein_coding		907		chr6	TogoVar
HBP1_chr7_107164003_107207522	107170815	T T	TAAAGGGT others(26): Show TAAAGGGTACCTTTAACTAACCTCCTAGTTAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	368	0.0027	33	c.-16 others(50): Show c.-16+1630_-16+1631insAAAGGGTACCTTTAACTAACCTCCTAGT TAAAA	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10			chr7	TogoVar
HCN1_chr5_45249948_45701380	45335029	T T	TAAATGGA others(26): Show TAAATGGAGAAAAAAAGAAAGAAAAAGGGGAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	226	0.0044	33	c.137 others(54): Show c.1377+18070_1377+18071insTTTTCCCCTTTTTCTTTCTTTTTT TCTCCATTT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	5/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45375117	A A	ATATTATA others(26): Show ATATTATATATAATATATTTTATAATATATAATG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	226	0.0044	33	c.123 others(54): Show c.1230+21342_1230+21374dupCATTATATATTATAAAATATATTA TATATAATA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN2_chr19_584881_622159	602167	T T	TCTCCTGC others(26): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03688.hp1 NA18942.hp1 HG00597.hp2 HG03688.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0188 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0001t0001g0188 a0001c0003t0001g0230 a0001c0003t0001g0231	3	408	0.0074	33	c.633 others(50): Show c.633-1223_633-1191dupCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar

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