Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PUM1_chr1_30926506_31070717	30972260	AAAGAAAA others(21): Show AAAGAAAAGAAGGGAAGGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA19083.hp1 HG01169.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0239 a0001c0002t0004g0318 a0001c0002t0004g0239 a0001c0002t0004g0318	2	334	0.0060	-28	c.150 others(47): Show c.1506+2363_1506+2390delCCCTTCCCTTCCCTTCCCTTCTTTTC TT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20336748	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01981.hp1 HG00280.hp1 HG01070.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0172 a0001c0001t0007g0173 a0001c0001t0007g0170 a0001c0001t0007g0172 a0001c0001t0007g0173	3	358	0.0084	-28	c.-18 others(45): Show c.-18-9398_-18-9371delCACACACACACACACACACACACACACA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	1/20			chr2	TogoVar
PVR_chr19_44638910_44671162	44667849	CAATATAT others(21): Show CAATATATATAAATTATATATAATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0227 a0001c0001t0008g0227	1	412	0.0024	-28	c.60 others(39): Show c.6039_*6066delAATATATATAAATTATATATAATATATA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1688		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51486774	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0026 a0026	a0026c0043 a0026c0043	a0026c0043t0003 a0026c0043t0003	a0026c0043t0003g0005 a0026c0043t0003g0005	1	122	0.0082	-28	c.453 others(45): Show c.453-3088_453-3061delAAAAAAAATATATATATATATATATATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	5/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51534894	GCGCCTCT others(21): Show GCGCCTCTGCCCGGCCGCCCCTAGGAAGT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0001 a0015c0025t0001	a0015c0025t0001g0027 a0015c0025t0001g0027	1	122	0.0082	-28	c.380 others(47): Show c.380+21918_380+21945delACTTCCTAGGGGCGGCCGGGCAGAGG CG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577979	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0029 a0007c0007t0001g0029	1	122	0.0082	-28	c.308 others(47): Show c.308+14620_308+14647delTCCTTCCTCTTTCTTTCTTTCTTTCT TT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577983	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	122	0.0082	-28	c.308 others(47): Show c.308+14616_308+14643delTCCTTCCTTCCTCTTTCTTTCTTTCT TT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577991	GAAAGAAA others(21): Show GAAAGAAAGAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0003 a0003c0005t0003g0003	1	122	0.0082	-28	c.308 others(47): Show c.308+14608_308+14635delTCCTTCCTTCCTTCCTTCCTCTTTCT TT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577999	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0001 a0004c0004t0003g0001	1	122	0.0082	-28	c.308 others(47): Show c.308+14600_308+14627delTCCTTCCTTCCTTCCTTCCTTCCTTC CT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51608042	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG02965.hp1 others(4): Show HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp2 NA19030.hp2 NA20129.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0024 a0026	a0001c0001 a0003c0005 a0009c0012 others(2): Show a0001c0001 a0003c0005 a0009c0012 a0024c0026 a0026c0043	a0001c0001t0002 a0001c0001t0003 a0003c0005t0001 others(4): Show a0001c0001t0002 a0001c0001t0003 a0003c0005t0001 a0003c0005t0003 a0009c0012t0001 a0024c0026t0003 a0026c0043t0003	a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 others(4): Show a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 a0003c0005t0003g0006 a0009c0012t0001g0038 a0024c0026t0003g0002 a0026c0043t0003g0005	7	122	0.0574	-28	c.237 others(47): Show c.237-15372_237-15345delGCTTGCTTGCTTGCTTTCTTTCTTTC TT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51708973	TGACATGT others(21): Show TGACATGTTTGGGGATTCCAGCCTTTGGG	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	122	0.0082	-28	c.165 others(47): Show c.165-54241_165-54214delCCCAAAGGCTGGAATCCCCAAACATG TC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51744028	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0109 a0002c0002t0002g0109	1	122	0.0082	-28	c.164 others(47): Show c.164+65125_164+65152delTTCCTTCCTTCCTTCCTTCCTTCCTT CC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51744966	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01517.hp1 HG01975.hp2 others(6): Show HG01167.hp2 HG01517.hp1 HG01975.hp2 HG02109.hp2 HG02486.hp1 HG02559.hp1 HG03579.hp1 NA18906.hp1 NA19043.hp2	a0001 a0002 a0009 others(4): Show a0001 a0002 a0009 a0012 a0018 a0029 a0032	a0001c0001 a0002c0002 a0009c0045 others(4): Show a0001c0001 a0002c0002 a0009c0045 a0012c0013 a0018c0049 a0029c0039 a0032c0048	a0001c0001t0002 a0002c0002t0001 a0009c0045t0001 others(4): Show a0001c0001t0002 a0002c0002t0001 a0009c0045t0001 a0012c0013t0001 a0018c0049t0003 a0029c0039t0002 a0032c0048t0001	a0001c0001t0002g0118 a0002c0002t0001g0053 a0002c0002t0001g0067 others(6): Show a0001c0001t0002g0118 a0002c0002t0001g0053 a0002c0002t0001g0067 a0002c0002t0001g0068 a0009c0045t0001g0052 a0012c0013t0001g0066 a0018c0049t0003g0014 a0029c0039t0002g0120 a0032c0048t0001g0069	9	122	0.0738	-28	c.164 others(47): Show c.164+64187_164+64214delCCCTTTCTTTCTTTCTTTCTTTCTTT CT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1677625	CCGAGGGC others(21): Show CCGAGGGCTGACGGCTCCCAGGCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19240.hp1 NA20129.hp1 HG02145.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0044 a0001c0005 a0001c0006 a0001c0044	a0001c0005t0004 a0001c0006t0004 a0001c0044t0025 a0001c0005t0004 a0001c0006t0004 a0001c0044t0025	a0001c0005t0004g0247 a0001c0006t0004g0232 a0001c0044t0025g0210 a0001c0005t0004g0247 a0001c0006t0004g0232 a0001c0044t0025g0210	3	322	0.0093	-28	c.731 others(43): Show c.731-609_731-582delAGGAAGGCCTGGGAGCCGTCAGCCCTCG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
PXYLP1_chr3_141226825_141299924	141248691	ATATACAC others(21): Show ATATACACACACGTGTATATATACACACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(33): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00642.hp1 HG01071.hp1 HG01123.hp2 HG02055.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02895.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18947.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp2 NA18999.hp2 NA19012.hp2 NA19030.hp2 NA19074.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0012 a0001c0004t0002 a0001c0007t0002	a0001c0001t0001g0196 a0001c0001t0001g0316 a0001c0001t0002g0285 others(30): Show a0001c0001t0001g0196 a0001c0001t0001g0316 a0001c0001t0002g0285 a0001c0001t0002g0334 a0001c0001t0003g0283 a0001c0001t0003g0326 a0001c0001t0005g0284 a0001c0001t0005g0318 a0001c0001t0006g0261 a0001c0001t0006g0306 a0001c0001t0006g0321 a0001c0001t0006g0327 a0001c0003t0001g0017 a0001c0003t0001g0275 a0001c0003t0001g0281 a0001c0003t0002g0002 a0001c0003t0002g0248 a0001c0003t0002g0279 a0001c0003t0002g0280 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0302 a0001c0003t0002g0303 a0001c0003t0002g0304 a0001c0003t0002g0322 a0001c0003t0003g0249 a0001c0003t0003g0265 a0001c0003t0004g0278 a0001c0003t0008g0233 a0001c0003t0008g0277 a0001c0003t0012g0276 a0001c0004t0002g0305 a0001c0007t0002g0282	36	384	0.0938	-28	c.-53 others(47): Show c.-53-11427_-53-11400delCACACACGTGTATATATACACACGTA TA	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141248696	CACACACG others(21): Show CACACACGTGTATATATACACACGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01928.hp1 HG00438.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0251 a0001c0001t0001g0072 a0001c0001t0001g0251	2	384	0.0052	-28	c.-53 others(47): Show c.-53-11420_-53-11393delGTGTATATATACACACGTATATACAC AC	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141248839	ATATATAC others(21): Show ATATATACACACGTATATATATACACACG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01257.hp1 HG01258.hp2 others(1): Show HG01071.hp2 HG01257.hp1 HG01258.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0328 a0001c0001t0002g0020 a0001c0001t0004g0320 a0001c0001t0001g0328 a0001c0001t0002g0020 a0001c0001t0004g0320	4	384	0.0104	-28	c.-53 others(47): Show c.-53-11277_-53-11250delCACACGTATATATATACACACGTATA TA	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PYCR2_chr1_225914878_225929250	225928572	CCTCTAAA others(21): Show CCTCTAAACAGCAGGCCAGTCTCTCCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02897.hp2 others(4): Show HG02451.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0003 a0001c0001t0001g0019	7	448	0.0156	-28	c.-44 others(39): Show c.-4490_-4463delATAGGAGAGACTGGCCTGCTGTTTAGAG	PYCR2	ENSG00000143811.20	transcript	ENST00000343818.11	protein_coding		4323		chr1	TogoVar
PYHIN1_chr1_158926552_158982059	158976868	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(248): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0027 a0001c0001t0028 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0002c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(228): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0373 a0001c0001t0007g0340 a0001c0001t0007g0345 a0001c0001t0007g0346 a0001c0001t0007g0347 a0001c0001t0007g0350 a0001c0001t0007g0351 a0001c0001t0007g0352 a0001c0001t0007g0354 a0001c0001t0012g0154 a0001c0001t0012g0155 a0001c0001t0012g0185 a0001c0001t0027g0103 a0001c0001t0028g0195 a0001c0003t0001g0090 a0001c0005t0001g0073 a0001c0006t0001g0257 a0002c0008t0001g0218	251	398	0.6307	-28	c.19 others(37): Show c.194_*221delTATATATATATATATATATATATATATA	PYHIN1	ENSG00000163564.15	transcript	ENST00000368140.6	protein_coding	9/9	3123	INFO_REALIGN_3_PRIME	chr1	TogoVar
PYHIN1_chr1_158926552_158982059	158979451	TATTCATG others(21): Show TATTCATGCTGTAACTATTGCAGAATTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02922.hp1 others(1): Show HG02572.hp1 HG02622.hp1 HG02922.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0169 a0001c0001t0002g0335 a0001c0001t0002g0360 others(1): Show a0001c0001t0001g0169 a0001c0001t0002g0335 a0001c0001t0002g0360 a0001c0001t0010g0145	4	398	0.0101	-28	c.27 others(39): Show c.2757_*2784delATTCATGCTGTAACTATTGCAGAATTTC	PYHIN1	ENSG00000163564.15	transcript	ENST00000368140.6	protein_coding		2393		chr1	TogoVar
QKI_chr6_163409718_163583592	163553062	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00609.hp2 others(80): Show HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01074.hp1 HG01099.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp2 HG02897.hp1 HG03017.hp1 HG03130.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03927.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19068.hp2 NA19072.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(24): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0026 a0001c0001t0030 a0001c0001t0035 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0072 a0001c0001t0076 a0001c0001t0087 a0001c0001t0090 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0112 a0002c0002t0049	a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0015 others(80): Show a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0027 a0001c0001t0003g0046 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0095 a0001c0001t0003g0138 a0001c0001t0003g0147 a0001c0001t0004g0009 a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0047 a0001c0001t0006g0049 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0083 a0001c0001t0006g0140 a0001c0001t0007g0023 a0001c0001t0007g0029 a0001c0001t0007g0041 a0001c0001t0007g0053 a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0007g0087 a0001c0001t0007g0093 a0001c0001t0007g0135 a0001c0001t0007g0144 a0001c0001t0010g0013 a0001c0001t0010g0048 a0001c0001t0010g0086 a0001c0001t0010g0143 a0001c0001t0010g0150 a0001c0001t0010g0237 a0001c0001t0013g0094 a0001c0001t0013g0155 a0001c0001t0013g0156 a0001c0001t0013g0159 a0001c0001t0018g0130 a0001c0001t0018g0158 a0001c0001t0026g0157 a0001c0001t0030g0028 a0001c0001t0030g0092 a0001c0001t0030g0132 a0001c0001t0035g0003 a0001c0001t0035g0004 a0001c0001t0039g0234 a0001c0001t0044g0145 a0001c0001t0044g0152 a0001c0001t0045g0020 a0001c0001t0045g0139 a0001c0001t0048g0016 a0001c0001t0048g0017 a0001c0001t0049g0012 a0001c0001t0052g0131 a0001c0001t0072g0160 a0001c0001t0076g0129 a0001c0001t0087g0235 a0001c0001t0090g0081 a0001c0001t0104g0146 a0001c0001t0105g0021 a0001c0001t0107g0141 a0001c0001t0108g0149 a0001c0001t0109g0142 a0001c0001t0112g0010 a0002c0002t0049g0014	83	302	0.2748	-28	c.547 others(45): Show c.547-8892_547-8865delATTTATTTATTTATTTATTTATTTATTT	QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
QRICH2_chr17_76269049_76313276	76287061	CACACACA others(21): Show CACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(162): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0006 others(22): Show a0002 a0004 a0006 a0007 a0008 a0010 a0014 a0017 a0018 a0019 a0020 a0021 a0032 a0033 a0036 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049	a0002c0002 a0002c0004 a0002c0060 others(28): Show a0002c0002 a0002c0004 a0002c0060 a0004c0006 a0004c0013 a0006c0009 a0006c0020 a0006c0043 a0007c0008 a0008c0010 a0010c0012 a0014c0019 a0017c0021 a0018c0047 a0018c0048 a0019c0022 a0020c0023 a0021c0024 a0032c0039 a0033c0040 a0036c0042 a0040c0059 a0041c0050 a0042c0051 a0043c0054 a0044c0055 a0045c0058 a0046c0057 a0047c0056 a0048c0053 a0049c0052	a0002c0002t0001 a0002c0004t0001 a0002c0060t0001 others(28): Show a0002c0002t0001 a0002c0004t0001 a0002c0060t0001 a0004c0006t0002 a0004c0013t0002 a0006c0009t0002 a0006c0020t0002 a0006c0043t0002 a0007c0008t0001 a0008c0010t0001 a0010c0012t0001 a0014c0019t0005 a0017c0021t0002 a0018c0047t0002 a0018c0048t0001 a0019c0022t0001 a0020c0023t0001 a0021c0024t0001 a0032c0039t0001 a0033c0040t0001 a0036c0042t0002 a0040c0059t0001 a0041c0050t0001 a0042c0051t0001 a0043c0054t0001 a0044c0055t0001 a0045c0058t0001 a0046c0057t0001 a0047c0056t0001 a0048c0053t0001 a0049c0052t0001	a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0235 others(157): Show a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0258 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0272 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0277 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0298 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0004t0001g0241 a0002c0004t0001g0242 a0002c0004t0001g0243 a0002c0004t0001g0244 a0002c0004t0001g0245 a0002c0004t0001g0246 a0002c0004t0001g0247 a0002c0004t0001g0248 a0002c0004t0001g0250 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0254 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0266 a0002c0004t0001g0269 a0002c0004t0001g0270 a0002c0004t0001g0273 a0002c0004t0001g0276 a0002c0004t0001g0278 a0002c0004t0001g0287 a0002c0004t0001g0296 a0002c0004t0001g0297 a0002c0004t0001g0306 a0002c0004t0001g0314 a0002c0004t0001g0319 a0002c0004t0001g0323 a0002c0004t0001g0335 a0002c0060t0001g0316 a0004c0006t0002g0027 a0004c0006t0002g0028 a0004c0006t0002g0029 a0004c0006t0002g0030 a0004c0006t0002g0032 a0004c0006t0002g0037 a0004c0006t0002g0038 a0004c0006t0002g0041 a0004c0006t0002g0046 a0004c0006t0002g0050 a0004c0006t0002g0051 a0004c0006t0002g0053 a0004c0006t0002g0054 a0004c0006t0002g0055 a0004c0013t0002g0003 a0004c0013t0002g0045 a0006c0009t0002g0034 a0006c0009t0002g0035 a0006c0009t0002g0036 a0006c0009t0002g0039 a0006c0009t0002g0042 a0006c0009t0002g0043 a0006c0009t0002g0047 a0006c0020t0002g0040 a0006c0020t0002g0052 a0006c0043t0002g0033 a0007c0008t0001g0070 a0007c0008t0001g0218 a0007c0008t0001g0219 a0007c0008t0001g0222 a0008c0010t0001g0226 a0008c0010t0001g0228 a0008c0010t0001g0229 a0008c0010t0001g0230 a0008c0010t0001g0231 a0010c0012t0001g0220 a0010c0012t0001g0223 a0010c0012t0001g0225 a0014c0019t0005g0347 a0014c0019t0005g0348 a0017c0021t0002g0031 a0017c0021t0002g0044 a0018c0047t0002g0056 a0018c0048t0001g0234 a0019c0022t0001g0300 a0019c0022t0001g0343 a0020c0023t0001g0238 a0020c0023t0001g0309 a0021c0024t0001g0294 a0021c0024t0001g0330 a0032c0039t0001g0215 a0033c0040t0001g0227 a0036c0042t0002g0048 a0040c0059t0001g0346 a0041c0050t0001g0279 a0042c0051t0001g0271 a0043c0054t0001g0268 a0044c0055t0001g0257 a0045c0058t0001g0255 a0046c0057t0001g0256 a0047c0056t0001g0253 a0048c0053t0001g0249 a0049c0052t0001g0299	165	364	0.4533	-28	c.401 others(45): Show c.4011+103_4011+130delATGTGTGTGTGTGTGTGTGTGTGTGTGT	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18			chr17	TogoVar
R3HDM4_chr19_891503_918219	892874	AGCCCCGA others(21): Show AGCCCCGAGCCCCGCGCCCCGCGCCCCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01515.hp2 HG01517.hp2 others(2): Show HG01099.hp1 HG01515.hp2 HG01517.hp2 HG04204.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0108 a0001c0001t0001g0206 a0001c0001t0003g0251 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0206 a0001c0001t0003g0251 a0001c0001t0003g0272 a0001c0003t0003g0111	5	432	0.0116	-28	c.45 others(39): Show c.4535_*4562delGCGGGGCGCGGGGCGCGGGGCTCGGGGC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		3628		chr19	TogoVar
R3HDM4_chr19_891503_918219	892881	AGCCCCGC others(21): Show AGCCCCGCGCCCCGCGCCCCGCGCCCCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01123.hp2 HG01358.hp1 others(12): Show HG00323.hp2 HG01123.hp2 HG01358.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG02004.hp1 HG02071.hp2 HG02273.hp1 HG02293.hp1 HG02559.hp1 HG03130.hp1 HG04204.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0193 a0001c0001t0001g0216 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0193 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0233 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0002g0159 a0001c0001t0002g0220 a0001c0001t0004g0194 a0001c0001t0004g0364 a0001c0001t0006g0171 a0001c0004t0001g0174	15	432	0.0347	-28	c.45 others(39): Show c.4528_*4555delGCGGGGCGCGGGGCGCGGGGCGCGGGGC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		3621		chr19	TogoVar
RAB10_chr2_26029084_26142454	26079310	AACACACA others(21): Show AACACACACACACAAACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	212	0.0047	-28	c.128 others(47): Show c.128-19338_128-19311delAACACACACACACACACACACACACA CA	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB10_chr2_26029084_26142454	26092261	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19030.hp1 HG04228.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0034 a0001c0001t0005g0077 a0001c0001t0004g0034 a0001c0001t0005g0077	2	212	0.0094	-28	c.128 others(45): Show c.128-6367_128-6340delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895233	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0116 a0003c0003t0001g0116	1	264	0.0038	-28	c.371 others(45): Show c.371+3810_371+3837delAATATATATATATATATATATATATATA	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895239	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	264	0.0038	-28	c.371 others(45): Show c.371+3804_371+3831delAAAAAAAATATATATATATATATATATA	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB13_chr1_153976650_153991339	153982312	CACACACA others(21): Show CACACACACACACACACACACACATACAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02818.hp1 others(5): Show HG02145.hp2 HG02258.hp1 HG02818.hp1 HG02976.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0003g0037 a0001c0001t0001g0009 a0001c0001t0003g0037	8	408	0.0196	-28	c.534 others(41): Show c.534+51_534+78delATGTATGTGTGTGTGTGTGTGTGTGTGT	RAB13	ENSG00000143545.10	transcript	ENST00000368575.5	protein_coding	7/7			chr1	TogoVar
RAB17_chr2_237569326_237595734	237593241	TCGGGGCT others(21): Show TCGGGGCTCAGCCTCGCTGCTCAGGGTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-28	c.-28 others(39): Show c.-2806_-2779delGGACCCTGAGCAGCGAGGCTGAGCCCCG	RAB17	ENSG00000124839.13	transcript	ENST00000264601.8	protein_coding		2508		chr2	TogoVar
RAB20_chr13_110518066_110566722	110550962	CTATTGTA others(21): Show CTATTGTATCACAGCACTCAGGACAATGA	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	426	0.0024	-28	c.172 others(47): Show c.172+10358_172+10385delTCATTGTCCTGAGTGCTGTGATACAA TA	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB2A_chr8_60511987_60628644	60548320	TCCCAGCA others(21): Show TCCCAGCAGGGGCGGCCGGGCAGAGGCGC	T T	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	358	0.0028	-28	c.47- others(45): Show c.47-10528_47-10501delAGCAGGGGCGGCCGGGCAGAGGCGCCCC	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB33A_chrX_130166962_130189870	130187430	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0046 a0001c0007t0001g0046	1	316	0.0032	-28	c.26 others(39): Show c.2691_*2718delTTCCTTCCTTCCTTCCTTCCTTCCTTCC	RAB33A	ENSG00000134594.5	transcript	ENST00000257017.5	protein_coding		2561		chrX	TogoVar
RAB39A_chr11_107923448_107968482	107946418	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	406	0.0025	-28	c.228 others(47): Show c.228-15526_228-15499delGTGTGTGTGTGTGTGTGTATATATAT AT	RAB39A	ENSG00000179331.3	transcript	ENST00000320578.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB3C_chr5_58578075_58864394	58627471	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(93): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00735.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02109.hp2 HG02135.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18971.hp2 NA18978.hp1 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp2 NA19060.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0001c0001t0065 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0081 a0001c0001t0083 a0001c0002t0011	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0022 others(93): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0114 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0125 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0206 a0001c0001t0003g0020 a0001c0001t0003g0033 a0001c0001t0003g0057 a0001c0001t0003g0121 a0001c0001t0003g0152 a0001c0001t0003g0191 a0001c0001t0004g0188 a0001c0001t0005g0138 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0006g0001 a0001c0001t0006g0003 a0001c0001t0006g0044 a0001c0001t0006g0051 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0007g0028 a0001c0001t0008g0080 a0001c0001t0008g0155 a0001c0001t0009g0064 a0001c0001t0009g0141 a0001c0001t0010g0081 a0001c0001t0010g0150 a0001c0001t0010g0154 a0001c0001t0011g0010 a0001c0001t0011g0040 a0001c0001t0011g0133 a0001c0001t0012g0014 a0001c0001t0012g0203 a0001c0001t0014g0147 a0001c0001t0014g0168 a0001c0001t0015g0070 a0001c0001t0015g0096 a0001c0001t0016g0042 a0001c0001t0016g0043 a0001c0001t0017g0144 a0001c0001t0017g0169 a0001c0001t0018g0196 a0001c0001t0018g0208 a0001c0001t0020g0021 a0001c0001t0023g0192 a0001c0001t0024g0174 a0001c0001t0025g0151 a0001c0001t0029g0046 a0001c0001t0029g0047 a0001c0001t0030g0213 a0001c0001t0031g0193 a0001c0001t0032g0218 a0001c0001t0034g0104 a0001c0001t0039g0202 a0001c0001t0040g0162 a0001c0001t0041g0105 a0001c0001t0044g0172 a0001c0001t0048g0137 a0001c0001t0049g0209 a0001c0001t0050g0062 a0001c0001t0055g0194 a0001c0001t0056g0063 a0001c0001t0057g0195 a0001c0001t0059g0216 a0001c0001t0062g0075 a0001c0001t0065g0161 a0001c0001t0067g0140 a0001c0001t0070g0143 a0001c0001t0071g0045 a0001c0001t0072g0041 a0001c0001t0075g0134 a0001c0001t0077g0215 a0001c0001t0078g0082 a0001c0001t0081g0103 a0001c0001t0083g0122 a0001c0002t0011g0124	96	220	0.4364	-28	c.252 others(45): Show c.252+9622_252+9649delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58737394	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19030.hp2 NA21309.hp1 HG02717.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0082 a0001c0001t0002 a0001c0001t0082	a0001c0001t0002g0048 a0001c0001t0002g0211 a0001c0001t0082g0106 a0001c0001t0002g0048 a0001c0001t0002g0211 a0001c0001t0082g0106	3	220	0.0136	-28	c.371 others(47): Show c.371+11302_371+11329delTATATATATATATATATATATATATA TA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB40B_chr17_82649973_82703698	82696554	AAGCCCTG others(21): Show AAGCCCTGTCCTCCAGGCGCTCAATCTCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(242): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0044 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0002t0004 a0001c0004t0001 a0001c0005t0048 a0001c0006t0001 a0002c0003t0003 a0003c0007t0004	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 others(236): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0298 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0059 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0187 a0001c0001t0002g0209 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0235 a0001c0001t0002g0285 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0315 a0001c0001t0003g0003 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0068 a0001c0001t0003g0077 a0001c0001t0003g0096 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0120 a0001c0001t0003g0132 a0001c0001t0003g0141 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0159 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0198 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0003g0238 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0322 a0001c0001t0003g0327 a0001c0001t0004g0004 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0071 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0103 a0001c0001t0004g0156 a0001c0001t0004g0166 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0184 a0001c0001t0004g0214 a0001c0001t0004g0302 a0001c0001t0004g0306 a0001c0001t0004g0324 a0001c0001t0004g0326 a0001c0001t0005g0041 a0001c0001t0005g0073 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0005g0108 a0001c0001t0005g0112 a0001c0001t0005g0154 a0001c0001t0005g0239 a0001c0001t0005g0241 a0001c0001t0005g0323 a0001c0001t0006g0223 a0001c0001t0007g0225 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0072 a0001c0001t0008g0075 a0001c0001t0008g0076 a0001c0001t0008g0133 a0001c0001t0009g0088 a0001c0001t0009g0089 a0001c0001t0009g0115 a0001c0001t0009g0153 a0001c0001t0010g0067 a0001c0001t0010g0074 a0001c0001t0010g0176 a0001c0001t0010g0185 a0001c0001t0010g0301 a0001c0001t0011g0100 a0001c0001t0011g0186 a0001c0001t0011g0228 a0001c0001t0011g0229 a0001c0001t0011g0231 a0001c0001t0012g0215 a0001c0001t0012g0236 a0001c0001t0013g0126 a0001c0001t0013g0146 a0001c0001t0013g0162 a0001c0001t0014g0104 a0001c0001t0015g0143 a0001c0001t0016g0117 a0001c0001t0016g0234 a0001c0001t0017g0082 a0001c0001t0017g0312 a0001c0001t0018g0136 a0001c0001t0018g0307 a0001c0001t0019g0150 a0001c0001t0020g0232 a0001c0001t0020g0300 a0001c0001t0022g0188 a0001c0001t0022g0242 a0001c0001t0024g0196 a0001c0001t0025g0220 a0001c0001t0027g0325 a0001c0001t0029g0164 a0001c0001t0030g0226 a0001c0001t0031g0109 a0001c0001t0032g0316 a0001c0001t0035g0240 a0001c0001t0036g0119 a0001c0001t0037g0318 a0001c0001t0038g0114 a0001c0001t0039g0137 a0001c0001t0040g0311 a0001c0001t0044g0065 a0001c0001t0046g0199 a0001c0001t0049g0286 a0001c0001t0050g0102 a0001c0001t0051g0066 a0001c0001t0052g0111 a0001c0002t0004g0001 a0001c0002t0004g0043 a0001c0002t0004g0283 a0001c0002t0004g0284 a0001c0004t0001g0321 a0001c0005t0048g0222 a0001c0006t0001g0130 a0002c0003t0003g0101 a0002c0003t0003g0195 a0003c0007t0004g0330	245	338	0.7249	-28	c.142 others(45): Show c.142+1873_142+1900delGGAGATTGAGCGCCTGGAGGACAGGGCT	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB44_chr6_36692826_36738184	36696584	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02165.hp1 HG02523.hp2 HG00408.hp1 HG02165.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0292 a0001c0001t0001g0042 a0001c0001t0001g0292	3	428	0.0070	-28	c.-13 others(39): Show c.-1343_-1316delTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1241		chr6	TogoVar
RAB44_chr6_36692826_36738184	36734313	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(64): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00673.hp1 HG00738.hp2 HG01106.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18966.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19030.hp1 NA19055.hp2 NA19065.hp1 NA19077.hp2 NA19080.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0014 a0018 a0019	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0016 a0002c0005 a0003c0006 a0004c0008 a0004c0013 a0014c0027 a0018c0025 a0019c0032	a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 others(10): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 a0001c0004t0001 a0001c0016t0001 a0002c0005t0001 a0003c0006t0001 a0004c0008t0001 a0004c0008t0024 a0004c0013t0001 a0014c0027t0001 a0018c0025t0001 a0019c0032t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0022 others(57): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0179 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0002t0003g0045 a0001c0002t0003g0317 a0001c0002t0006g0353 a0001c0004t0001g0259 a0001c0004t0001g0278 a0001c0016t0001g0003 a0002c0005t0001g0016 a0002c0005t0001g0017 a0002c0005t0001g0036 a0002c0005t0001g0069 a0002c0005t0001g0078 a0003c0006t0001g0058 a0004c0008t0001g0263 a0004c0008t0001g0275 a0004c0008t0001g0276 a0004c0008t0024g0261 a0004c0013t0001g0277 a0004c0013t0001g0286 a0014c0027t0001g0016 a0018c0025t0001g0048 a0019c0032t0001g0003	67	428	0.1565	-28	c.22 others(39): Show c.2221_*2248delAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1130		chr6	TogoVar
RAB44_chr6_36692826_36738184	36734348	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02055.hp1 HG02145.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0233 a0002c0005t0011g0240 a0002c0005t0011g0233 a0002c0005t0011g0240	2	428	0.0047	-28	c.22 others(39): Show c.2256_*2283delGAGAGAGAGAGAGAGAGAGAGAGAGAGG	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1165		chr6	TogoVar
RAB4A_chr1_229266111_229310894	229302283	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0283 a0001c0001t0007g0283	1	400	0.0025	-28	c.542 others(43): Show c.542-577_542-550delATATATATATATATATATATATATATTT	RAB4A	ENSG00000168118.12	transcript	ENST00000366690.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB5C_chr17_42119979_42159989	42144925	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	306	0.0033	-28	c.-89 others(45): Show c.-89+9940_-89+9967delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB5C	ENSG00000108774.15	transcript	ENST00000346213.9	protein_coding	1/5			chr17	TogoVar
RAB5IF_chr20_36600779_36617557	36609191	ACACGCAC others(21): Show ACACGCACACACGCACACACGCACACACG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG03453.hp1 HG02055.hp1 HG02109.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0004g0300 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0004g0300	3	398	0.0075	-28	c.219 others(43): Show c.219-406_219-379delGCACACACGCACACACGCACACACGCAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73731705	TATATATA others(21): Show TATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	354	0.0028	-28	c.71- others(41): Show c.71-910_71-883delGTATATATATATATATATATATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73731707	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 HG02451.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0100 a0001c0001t0012g0101 a0001c0001t0012g0100 a0001c0001t0012g0101	2	354	0.0057	-28	c.71- others(41): Show c.71-912_71-885delGTGTATATATATATATATATATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6B_chr3_133819235_133900882	133889388	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0111 a0001c0001t0063g0111	1	386	0.0026	-28	c.70+ others(43): Show c.70+5981_70+6008delTATATATATATATATATATATATATATA	RAB6B	ENSG00000154917.11	transcript	ENST00000285208.9	protein_coding	1/7			chr3	TogoVar
RABEP1_chr17_5277284_5391340	5373693	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0326 a0001c0001t0007g0326	1	352	0.0028	-28	c.202 others(45): Show c.2025+256_2025+283delACACACACACACACACACACACACACAC	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABGAP1L_chr1_174154520_175000308	174318580	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0159 a0001c0001t0007g0159	1	272	0.0037	-28	c.146 others(49): Show c.1465+13481_1465+13508delCTTTCTTTCTTTCTTTCTTTCTTT CTTT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327958	TATATATA others(21): Show TATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02895.hp2 others(1): Show HG02257.hp2 HG02630.hp2 HG02895.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0077 a0002c0003t0006g0078 a0002c0003t0006g0079 others(1): Show a0002c0003t0006g0077 a0002c0003t0006g0078 a0002c0003t0006g0079 a0002c0003t0006g0080	4	272	0.0147	-28	c.146 others(49): Show c.1465+22853_1465+22880delCACACACATATATATATATATATA TATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174577210	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	272	0.0037	-28	c.171 others(49): Show c.1711-60137_1711-60110delCACACACACACACACACACACACA CACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar

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