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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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
GDI1_chrX_154432154_154448467	154441799	G G	GC GC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19006.hp1 NA19006.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0024 a0005c0008t0005g0024	1	283	0.0035	1	c.991 others(6): Show c.991+7dupC		GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding	8/10				INFO_REALIGN_3_PRIME	chrX	TogoVar
GDI1_chrX_154432154_154448467	154442259	AG AG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0021 a0001c0001t0011g0021	1	283	0.0035	-1	c.113 others(7): Show c.1136+7delG		GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding	9/10				INFO_REALIGN_3_PRIME	chrX	TogoVar
GDI2_chr10_5760223_5818434	5766150	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0061 a0001c0005t0002g0061	1	398	0.0025	0	c.119 others(4): Show c.1194C>A	p.Ile others(6): Show p.Ile398Ile	GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	11/11	1370/2297	1194/1338	398/445		chr10	TogoVar
GDI2_chr10_5760223_5818434	5800591	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	398	0.0025	0	c.153 others(5): Show c.153+7G>A		GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	2/10					chr10	TogoVar
GDPD1_chr17_59215511_59280970	59248736	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01169.hp2 HG01884.hp2 others(2): Show HG01168.hp1 HG01169.hp2 HG01884.hp2 HG02451.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0075 a0001c0001t0009g0076 a0001c0001t0009g0077 others(2): Show a0001c0001t0009g0075 a0001c0001t0009g0076 a0001c0001t0009g0077 a0001c0001t0009g0247 a0001c0001t0009g0248	5	312	0.0160	0	c.322 others(5): Show c.322-4A>G		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	3/9					chr17	TogoVar
GDPD1_chr17_59215511_59280970	59272835	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0063 a0003c0004t0001g0063	1	312	0.0032	0	c.821 others(3): Show c.821A>T	p.Gln others(6): Show p.Gln274Leu	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	9/10	920/3241	821/945	274/314		chr17	TogoVar
GDPD2_chrX_70418314_70438381	70423378	CA CA	C C	splice_region_variant splice_region_variant	LOW	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0007 a0003c0015t0007	a0003c0015t0007g0029 a0003c0015t0007g0029	1	318	0.0031	-1	c.-11 others(4): Show c.-11delA		GDPD2	ENSG00000130055.14	transcript	ENST00000374382.4	protein_coding	1/16				INFO_REALIGN_3_PRIME	chrX	TogoVar
GDPD2_chrX_70418314_70438381	70426362	GC GC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19072.hp1 NA19072.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0057 a0006c0012t0001g0057	1	318	0.0031	-1	c.364 others(6): Show c.364-3delC		GDPD2	ENSG00000130055.14	transcript	ENST00000374382.4	protein_coding	5/15				INFO_REALIGN_3_PRIME	chrX	TogoVar
GDPD2_chrX_70418314_70438381	70426640	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	318	0.0031	0	c.463 others(5): Show c.463-8G>A		GDPD2	ENSG00000130055.14	transcript	ENST00000374382.4	protein_coding	6/15					chrX	TogoVar
GDPD2_chrX_70418314_70438381	70432912	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0013 a0001c0014 a0002c0005 a0003c0015 a0005c0008 a0006c0012 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0006t0001 a0001c0010t0003 a0001c0013t0003 a0001c0014t0001 a0002c0005t0001 a0003c0015t0007 a0005c0008t0001 a0006c0012t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0002g0002 a0001c0001t0002g0056 a0001c0001t0005g0001 a0001c0001t0006g0002 a0001c0003t0001g0006 a0001c0003t0001g0020 a0001c0003t0001g0032 a0001c0003t0003g0007 a0001c0004t0001g0006 a0001c0006t0001g0021 a0001c0010t0003g0007 a0001c0013t0003g0007 a0001c0014t0001g0001 a0002c0005t0001g0003 a0003c0015t0007g0029 a0005c0008t0001g0001 a0006c0012t0001g0057 a0007c0011t0001g0054	273	318	0.8585	0	c.153 others(4): Show c.1539A>G	p.Arg others(6): Show p.Arg513Arg	GDPD2	ENSG00000130055.14	transcript	ENST00000374382.4	protein_coding	15/16	1617/1993	1539/1620	513/539		chrX	TogoVar
GDPD3_chr16_30099810_30118537	30112224	GGGA GGGA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02922.hp2 HG02965.hp2 others(4): Show HG02258.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp1 HG03139.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067	7	390	0.0180	-3	c.484 others(14): Show c.484-6_484-4delTCC		GDPD3	ENSG00000102886.15	transcript	ENST00000406256.8	protein_coding	5/9					chr16	TogoVar
GDPD4_chr11_77211558_77306686	77243853	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp2 HG00558.hp1 HG00597.hp2 others(119): Show HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015	a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0225 others(118): Show a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0004g0006 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0007g0245 a0001c0001t0013g0249 a0001c0001t0015g0151	122	350	0.3486	0	c.108 others(6): Show c.1087-5T>C		GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	12/16					chr11	TogoVar
GDPD4_chr11_77211558_77306686	77271130	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG01255.hp2 HG00099.hp1 HG01255.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0206 a0006c0006t0006g0207 a0006c0006t0006g0206 a0006c0006t0006g0207	2	350	0.0057	0	c.400 others(3): Show c.400G>C	p.Val others(6): Show p.Val134Leu	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	7/17	735/2617	400/1563	134/520		chr11	TogoVar
GDPGP1_chr15_90229209_90250811	90234295	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0057 a0002c0002t0057	a0002c0002t0057g0108 a0002c0002t0057g0108	1	438	0.0023	0	c.-14 others(6): Show c.-142+3A>G		GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding	1/3					chr15	TogoVar
GDPGP1_chr15_90229209_90250811	90234297	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0057 a0002c0002t0057	a0002c0002t0057g0108 a0002c0002t0057g0108	1	438	0.0023	0	c.-14 others(6): Show c.-142+5G>C		GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding	1/3					chr15	TogoVar
GEMIN2_chr14_39109323_39141973	39122409	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(118): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02300.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18954.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0004 a0003c0002t0005 a0001c0001t0001 a0001c0001t0004 a0003c0002t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(99): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0343 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0004g0002 a0003c0002t0005g0171	121	424	0.2854	1	c.373 others(6): Show c.373-8dupT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	4/9				INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN5_chr5_154882411_154943211	154892388	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(309): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016	a0001c0001 a0001c0004 a0001c0014 others(24): Show a0001c0001 a0001c0004 a0001c0014 a0001c0025 a0001c0029 a0001c0030 a0002c0002 a0002c0008 a0002c0011 a0002c0018 a0002c0021 a0003c0007 a0003c0009 a0003c0023 a0004c0006 a0005c0012 a0006c0020 a0006c0022 a0007c0010 a0008c0031 a0009c0016 a0010c0024 a0011c0028 a0012c0026 a0013c0027 a0014c0019 a0016c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0004t0001 a0001c0004t0005 a0001c0014t0001 a0001c0025t0001 a0001c0029t0002 a0001c0030t0001 a0002c0002t0001 a0002c0008t0001 a0002c0011t0001 a0002c0018t0001 a0002c0021t0001 a0003c0007t0001 a0003c0009t0001 a0003c0023t0001 a0004c0006t0001 a0005c0012t0002 a0006c0020t0001 a0006c0022t0001 a0007c0010t0001 a0008c0031t0001 a0009c0016t0001 a0010c0024t0001 a0011c0028t0002 a0012c0026t0001 a0013c0027t0001 a0014c0019t0001 a0016c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(264): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0002g0003 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0006g0216 a0001c0004t0001g0121 a0001c0004t0001g0122 a0001c0004t0001g0123 a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0001g0126 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0005g0039 a0001c0014t0001g0211 a0001c0025t0001g0180 a0001c0029t0002g0279 a0001c0030t0001g0215 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0008t0001g0064 a0002c0008t0001g0065 a0002c0008t0001g0066 a0002c0011t0001g0048 a0002c0011t0001g0059 a0002c0018t0001g0046 a0002c0021t0001g0094 a0003c0007t0001g0044 a0003c0007t0001g0045 a0003c0007t0001g0074 a0003c0007t0001g0075 a0003c0009t0001g0040 a0003c0009t0001g0041 a0003c0009t0001g0042 a0003c0023t0001g0043 a0004c0006t0001g0032 a0004c0006t0001g0275 a0004c0006t0001g0276 a0004c0006t0001g0277 a0004c0006t0001g0278 a0005c0012t0002g0222 a0005c0012t0002g0223 a0006c0020t0001g0067 a0006c0022t0001g0049 a0007c0010t0001g0033 a0007c0010t0001g0034 a0008c0031t0001g0071 a0009c0016t0001g0050 a0010c0024t0001g0225 a0011c0028t0002g0231 a0012c0026t0001g0105 a0013c0027t0001g0248 a0014c0019t0001g0072 a0016c0013t0001g0120	312	338	0.9231	0	c.375 others(4): Show c.3759C>T	p.Asp others(7): Show p.Asp1253Asp	GEMIN5	ENSG00000082516.9	transcript	ENST00000285873.8	protein_coding	25/28	3837/5404	3759/4527	1253/1508		chr5	TogoVar
GEMIN5_chr5_154882411_154943211	154899193	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0279 a0001c0029t0002g0279	1	338	0.0030	0	c.313 others(4): Show c.3132A>G	p.Lys others(7): Show p.Lys1044Lys	GEMIN5	ENSG00000082516.9	transcript	ENST00000285873.8	protein_coding	22/28	3210/5404	3132/4527	1044/1508		chr5	TogoVar
GEMIN5_chr5_154882411_154943211	154902675	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00597.hp2 HG01081.hp1 HG01109.hp1 others(45): Show HG00597.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01516.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03831.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA18946.hp2 NA18951.hp2 NA18971.hp2 NA18998.hp1 NA19006.hp2 NA19066.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0002 a0003 a0006 others(3): Show a0002 a0003 a0006 a0008 a0009 a0014	a0002c0002 a0002c0008 a0002c0011 others(9): Show a0002c0002 a0002c0008 a0002c0011 a0002c0018 a0002c0021 a0003c0009 a0003c0023 a0006c0020 a0006c0022 a0008c0031 a0009c0016 a0014c0019	a0002c0002t0001 a0002c0008t0001 a0002c0011t0001 others(9): Show a0002c0002t0001 a0002c0008t0001 a0002c0011t0001 a0002c0018t0001 a0002c0021t0001 a0003c0009t0001 a0003c0023t0001 a0006c0020t0001 a0006c0022t0001 a0008c0031t0001 a0009c0016t0001 a0014c0019t0001	a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 others(41): Show a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0008t0001g0064 a0002c0008t0001g0065 a0002c0008t0001g0066 a0002c0011t0001g0048 a0002c0011t0001g0059 a0002c0018t0001g0046 a0002c0021t0001g0094 a0003c0009t0001g0040 a0003c0009t0001g0041 a0003c0009t0001g0042 a0003c0023t0001g0043 a0006c0020t0001g0067 a0006c0022t0001g0049 a0008c0031t0001g0071 a0009c0016t0001g0050 a0014c0019t0001g0072	48	338	0.1420	0	c.273 others(4): Show c.2730A>G	p.Gly others(6): Show p.Gly910Gly	GEMIN5	ENSG00000082516.9	transcript	ENST00000285873.8	protein_coding	20/28	2808/5404	2730/4527	910/1508		chr5	TogoVar
GEMIN5_chr5_154882411_154943211	154902683	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 HG01081.hp1 HG01123.hp1 others(39): Show HG00597.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01516.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG03130.hp2 HG03516.hp2 HG03831.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA18946.hp2 NA18951.hp2 NA18971.hp2 NA18998.hp1 NA19006.hp2 NA19066.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0002 a0006 a0008 others(2): Show a0002 a0006 a0008 a0009 a0014	a0002c0002 a0002c0008 a0002c0011 others(5): Show a0002c0002 a0002c0008 a0002c0011 a0006c0020 a0006c0022 a0008c0031 a0009c0016 a0014c0019	a0002c0002t0001 a0002c0008t0001 a0002c0011t0001 others(5): Show a0002c0002t0001 a0002c0008t0001 a0002c0011t0001 a0006c0020t0001 a0006c0022t0001 a0008c0031t0001 a0009c0016t0001 a0014c0019t0001	a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 others(35): Show a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0008t0001g0064 a0002c0008t0001g0065 a0002c0008t0001g0066 a0002c0011t0001g0048 a0002c0011t0001g0059 a0006c0020t0001g0067 a0006c0022t0001g0049 a0008c0031t0001g0071 a0009c0016t0001g0050 a0014c0019t0001g0072	42	338	0.1243	0	c.272 others(6): Show c.2729-7C>G		GEMIN5	ENSG00000082516.9	transcript	ENST00000285873.8	protein_coding	19/27					chr5	TogoVar
GEMIN7_chr19_45074260_45096518	45079385	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	420	0.0024	0	c.-13 others(6): Show c.-132+8C>G		GEMIN7	ENSG00000142252.11	transcript	ENST00000270257.9	protein_coding	1/2					chr19	TogoVar
GEMIN8_chrX_14001726_14034892	14006726	T T	TA TA	splice_region_variant splice_region_variant	LOW	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0099 a0004c0004t0006g0099	1	273	0.0037	1	c.21 others(6): Show c.2186dupT		GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding	5/5					chrX	TogoVar
GEMIN8_chrX_14001726_14034892	14009174	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0099 a0004c0004t0006g0099	1	273	0.0037	1	c.473 others(6): Show c.473-6dupT		GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding	4/4					chrX	TogoVar
GEM_chr8_94244253_94267319	94250592	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01496.hp1 HG01891.hp2 others(24): Show HG00639.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02109.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0004 a0001c0001t0009 a0001c0005t0004 others(2): Show a0001c0001t0004 a0001c0001t0009 a0001c0005t0004 a0002c0002t0009 a0003c0003t0004	a0001c0001t0004g0007 a0001c0001t0004g0049 a0001c0001t0004g0053 others(7): Show a0001c0001t0004g0007 a0001c0001t0004g0049 a0001c0001t0004g0053 a0001c0001t0009g0016 a0001c0001t0009g0042 a0001c0001t0009g0112 a0001c0001t0009g0113 a0001c0005t0004g0031 a0002c0002t0009g0015 a0003c0003t0004g0087	27	412	0.0655	0	c.614 others(5): Show c.614-5C>G		GEM	ENSG00000164949.8	transcript	ENST00000297596.3	protein_coding	4/4					chr8	TogoVar
GEN1_chr2_17749138_17793946	17761589	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG00639.hp2 HG02257.hp2 others(26): Show HG00621.hp2 HG00639.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03195.hp2 NA18906.hp1 NA18945.hp2 NA18946.hp2 NA18957.hp1 NA18968.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp2 NA18992.hp2 NA19001.hp1 NA19006.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19070.hp2	a0005 a0006 a0005 a0006	a0005c0005 a0006c0006 a0005c0005 a0006c0006	a0005c0005t0005 a0005c0005t0008 a0005c0005t0027 others(6): Show a0005c0005t0005 a0005c0005t0008 a0005c0005t0027 a0005c0005t0029 a0006c0006t0008 a0006c0006t0010 a0006c0006t0011 a0006c0006t0026 a0006c0006t0028	a0005c0005t0005g0002 a0005c0005t0005g0112 a0005c0005t0008g0002 others(11): Show a0005c0005t0005g0002 a0005c0005t0005g0112 a0005c0005t0008g0002 a0005c0005t0027g0113 a0005c0005t0029g0002 a0006c0006t0008g0034 a0006c0006t0008g0115 a0006c0006t0010g0018 a0006c0006t0010g0214 a0006c0006t0011g0044 a0006c0006t0011g0211 a0006c0006t0011g0213 a0006c0006t0026g0212 a0006c0006t0028g0114	29	318	0.0912	0	c.348 others(5): Show c.348+7A>G		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	3/13					chr2	TogoVar
GEN1_chr2_17749138_17793946	17773130	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03669.hp1 HG04199.hp1 HG04204.hp1 HG03669.hp1 HG04199.hp1 HG04204.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0015 a0011c0011t0015	a0011c0011t0015g0072 a0011c0011t0015g0073 a0011c0011t0015g0074 a0011c0011t0015g0072 a0011c0011t0015g0073 a0011c0011t0015g0074	3	318	0.0094	0	c.988 others(3): Show c.988G>A	p.Glu others(6): Show p.Glu330Lys	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	9/14	1211/9957	988/2727	330/908		chr2	TogoVar
GEN1_chr2_17749138_17793946	17788241	AGCAAAGC others(5698): Show AGCAAAGCTTTTATCAGGCTCAGCTAACAGCTTGCATTAGCCTCTTTCAG GAACTTGCCACATTGCCTATAAACTGACATGCTGCAGAGTCAGCCCCAGC AATAGTCCAAAACAGTGGGACTCTTTTTGATGATTTCAAAATGGATAGTT TAGTTAGCCCCAGGCCAGATAAATTCACTAAGTTGCCTGTTTGGCAATGG AGGGCAGAGTTATCAGCAAAGTAGGCTGACCCTTCTGTGGGCAGAATGAA TATTTTGCTAATGTTTAGAAGAATTCCTTTTGTAAGCATCAAAGAAGAAC TTTAATAAGGATTAAGTGTCTGAGCTTCCTTAGCATTATTCTATTCCAAG ACCCAAAAAGGAAAATAACCTCCCCAAATGGTAAAAACTGCTTGTATATT TAGAATTCTCTGATCAAAGACCTAATGAAAAGATTCTATAGTGTTTGCGT CATCATAAGTTAAATCTTCATCTACCACCCAACTGATACCTGCCTTTCTG TGAGTGAAATCAGAAACGGCTGTTCTTTAATAAATGCTTTCAATCTGAAA GTCAGAAAGTGATTTATGAAACACCCAGGTGAGGGGAGACTACAAGTCCC TTTGCCTTTTAGTTTTCAAGCAATACTGGTTGCAGTAACTGCTCTGATGT AATTATTGCTAACATTTACGTTTTTATTAAACTGAAAATGCTAACTGTGA ATGCCAGATGCCAGATGCCAGAAGCCTTATTTTACATAATTGTCCAAACA CAGACGTCTCTAGGCCAGGCGCTGTGAAGGCCCCACAACTTCACAGCTGG GATAGTTCTATGGGAGGTGTCAAAGGACTGGGTACAATCAGGTCTACATC TTCTGAAACAAACCGAAGGACATTTTCTTAAACCTGAGAGGCACTGGTCT GAGGAAGTGTCTTGGTTCTGATAGAGACTAGCTACACTGGGCAAACCTCC CCTGGCTTCACTTCCTTCTGTCTTCACTCTCCATCCCATTTGAGGACGCA TATCAATATATATGAAACACGTATCAATATATAAATTCAGCATTTCTGAT GTCTTTAAAATATGTTCCATTATACTCTATAATTTTTTGAGAAGGGAATT GTCTACATATGAAGAAAAAAGAGACAAAGTTCATTAGGCACTAATGAATA TAAGTGAGCTTATACAGTTTCAAAAGTCTGTTATGCAAAGCATTAGTGAA TCTTGGGAAAAGACAAATGACATATGTTAAATGTTTATGTGCCACACATC TAATTCTTAAAATTCCTCATCTACGCCCCACAAAAACTGAGAGGGCCGAG TGCGGTGGCTCATGCCTGTAATCTCAGGACTTTGGGAGGCTGAGGCGGGC GGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGAAA CCCCGTCTCTACTGAAAATACAAAAATTTGCTGGGCGTGATGGCAGGTGA CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCT GGGAGGTGAAGGTTGCAGTGAGCCAAGATCATGCCACAGCACTCTAGCCT GGGTGATAGAACGAGACTCAGTCTCAAAAAAAAAAAAAAATACTGAGAGG CAGGCACTGTTATCCCCTATTTGCATCTGAGGCTAAGAGAAGTTAAGGAA CTTATCCAAGGTCAACATCTAGTAAACAGCAGGACCAAGATTTTAACTCA GAGCTACTCTAACTCCAAAGCTCCATCCATCATTTTCTCCCCACTCTTTG TTTCTTTGGAAACAGTTAAGGCTTTTTCTGTGAACCCCACATCTCTCTGA GTCTGTGGCACTTTTAAAGAACCCATTCATCAGAGAGATGCAATAAACTC TACTGATATGATTTCTAGAAAACTGACTACTAAATAAGAGTAGTTCAGAA TCCCAGAAAAACTGTCTTGTGAACACTCAGGAAATTGTCACAGAATTTAT TTTAATTTTCAGAATTAAAAAAATAACTATTAGGCCAGGCGCGGTGGCTC CCACCTGTAATCCCACCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGA GGTTGGGAGTTCCAAACCAGCCTGACCAACATGGAGAAACCCAGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCC AGCTACTTGGGAGGCTGAGGCAGGAGAAGCCCTTGAACCCGGGAGGCAGA GGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAG AGCGAAACTCCGTCTCAAAAATAAATAAATATATAAATAAATAAGTTAAT TAAATAACTATTAAAGTCAACATTGTAGGAGGCTGGGGGGTTTTCATATG AAAACCCCCAGAATGAAGATGAGGGGGACAGGCAGAATTCCAGTCATTTC CTTACTCTCCAAAGCTCTAACCACAGGGATGAGTCCTCTGCAAGTTCTTA GTGGTGCATGAGTTAAGAGTGTCTCCTTTTTAGTGTTCATGTCTTAGTTG AATCACCTTTGCACAGTATCTGCAATGAGCCAGGCCCCGTGCTGATCATG TTAAGTACATTTTTTATTCTCTTGAAAGCAGTCCAGGGAAGGAAAGCAAC ATGCCTGAGGTCACACTTAGTACACAAATCTCCCAGTTACCTTTGGAGGT AGCATTGCTACTCCAAAGTACCATCTTTCTTGCAGGAACTGCTAAACAGC CTTCCAGTTGATCTTCCTGCTTCAAAATGCTCGTGCCTTTCTGTTGTGCA CATATCAGCAAGATTAATCTATTGAAAACGCAAATCACATACTAACCACC CCCTGTGTAAAAGCGTCCCATGGCTTCTTATCACCCTCTGTAAATCCCAG CCTCCTCAGCAGCTGTGGCTACCTGTCTCCCTCACCTCATCCTCCGTCGC TTCCCCTTGCTCCCCTGGCCCTTGGCACATGGCTTGCTTTCTTTCCTTAA ACATACCAAGCTTACTGTACACTCTGGCTCTTGCCATTGCTGCCCACTCT GTGTGGACTTCCCACAGACCTCTGGATGGTAAGCTGTTTATCACCACCGA GGTCTCAGCCTCTTGGCTAGTACTTTTGTGAGCACGTTAGCTAAGTAGCC ACCTCCCACTCCTACCACCACTCCTTCACACTTGCCTCTCACCCTGTATT ATTTTCTTTACAACTTATTAGATTTTTTTCTTTGTCTCCTATCACTAGAG TAACATAACAAGAGAATAAACTTTGCTTTACTCTTTGTTGTATTCCCAGA GCTTTGAACAGTGCCTAATATGCAGTATGCATTTAATACATACTTGTTCA ATGAATAAATCAAGTTAGCTTTTCAACCCAAATCTATGTAAAGACAAAGC CCAGGCTTTGACCACGAACATGCTGCAATTTTTTATTGAATTCTTAAGAT GGATTCAGTCCTGGGACAGGCATACTGCCAAGTACATGGGAAAACATCTG CTTCCTCCCTTCAAGATGTTTATAAGTTAGTTGTGATGCCAGACTCATTT ATTCTTGAGATAACAAATACAGTAAGTGCTGAGTGAAGGGAAATGTATCA GAGGGCACCAGAATGTAGAAGAGAGTGGTCAGTGAAGATACAGGTGGTCC TTATAGGGCCTCCTAGAGCTGAGAAACTTGATAGGAGCCTTTTGTGGTGG ATGCCAGTTAGGGGGAGGGTAAGACTGTCAGGTCTTGGATGAGACTTAGA GAATCAGTGAGTTTATCCAGGAAAGAGTCATCAATGACATGTGTTTTAGG GCATTCCAGAGAGGGACATTTGCTAGATACTTTTTTCTGGAAAAAAGCCT CACTCTTTACTTACAAGTATAGTTTTATGAGAAAACGCGGGCAAGAGAAG AGGAAAGGAGGAAAGAGAAAGCAAGGCAGTGAGGTTTCTTCTTTCTCACT CTGGCCATGGTTGTGGTAGGGGCAAGATGGATCGAGACTGGCACACAGTG AGTGCCAGATAATTATTGGCCCACTTACTCTTGAAGGTCTCCTCTGTGGG ACTTTCCTGGAATTCCACGCTCTCTCCAGAAATAAATGGCCAACTGTGGG ACCTAGGAGGCTACCTCTTTAGGGCCAGCAGTAAGGCAAAGCTGCCATGC AGCATAATCTGCCCAAGTGATTGGACTGCACAGACCCTTGGCCATTGGAA GAGACTGCACCATCCCAGAGTTTCCCAGAGGGCCACCATCATGAGGATTG CTCCTATCATGGCTCCCAGTGAAGGATAGAGCAAGGAGACCCCTGAGAAC TAAATTGCCAGCCAGTGAAGATGACTTACTATGCTCAGAATTAACATTCA TCCATCCACCACCCCATCCATCCATTCAGGAAGCAAATACTCTATGCCAA GAATCTTGCAAACTGTAGGAGCTATCACAAGGGTTAGATAGTTTCCTTTC CTTGAGGAACTCATGGTCTACTCATAAAGAAAACCATATGCTGTTAGTTT CTTAACTCTACCCATGTTTCCAGGGCAGAGTTGAATAAAAGATTTATCAC ATACCCAGGCTTGGCCACAAAACCACACCACACGAAACCAAAACACTCCA TGAAGGGAAAGACTAATTAACCTTCCCACCCCCCCACCCCTCAAGCCCTT CCCAGAGAGGTGATAATGAAAGATTTGGTCTCTACTGAGCCACAACAGGA TTTGCATTTTAAAGTTTGACAGATCTTTATAGGCCTTTTGATCTCTTTTC TGCTCTCTACCTACCCACCCCAGACTTGCTGCCTCCTCCCAAACCCCCCT CAGTTCTCTACCCTGAACAAGCTATAAGCTTCAGAAATGATGGTCCCAGG TCCAGAGGCCTCTAGGATATGTGCCCTGGTGTAATGTGCTCCTAGCCATA TAGCTCCTATTTATTGAATATCAGCTGTATATCAAGTACTTTTCTTCCTA ACCCGCACAATCACCCTGCAAGGTTCATATTATTTACCTTTTTTTAAGTG AGGAGGAAAATGAGGCATGGAGGTTAAATAACCTGCTCCAAATCACTAAT AAAAAGTAGGAGCGACAGAACTAAAACCTAGGTCTGTGCACCGCCAAACC TATAACCTTTTCATTAAGCCACACTGACTCCATTAGACAATACTGGTTAT TGTAGGCTATCGTAACTAAATCCTTCTTGGAAAGGTAATCCTGCACTCCA GTTTTCTTGCAGGTGTTATTCTGGAAATAGCCCAATAAACGTCACAATTT GATTTACTCGAGGACAAACTTGCAGCTGTCTTTTCTTTTAGAGCTCTTCT TGAGCTCTGACTTTTTCCTCTCTTTCTACTCATCTTTCACACAGACTACT GCAGCCGGACAGCTGCATGTCTTGGTTTGGTACTGTCATCTGCAGCCTCC TGGGCTTTGTGGAACAGTCTCTCCAACCCAGAGAAAGCCTATTGGAAACA AACTCAGAGTCTCAGATACTTATATTTTTGCAGCTGGAGGGAACCCAGAA AGCCATCTAAAACTGAGTTTCAGAGAATGACTAGTGCAAAATAACTGGTA TCAGATTTACTAAAATACTGCAGCTTTGCTATGTTAAAGTAAAAGAAGGA AACAAGTCACATTAACAAATATTTCAATGTGCCGGGTGCTTTATCTCATT TAATCTTCACTACAACCCAGTGAGGTAAAATTAGTTACTATCCTTGTGCT CCAGATGAGCCCTGACTCAGAGACATAACTGACTCTACAGTGATAGCTGG CAAGAC	A A	splice_region_variant splice_region_variant	LOW	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0032 a0007c0007t0032	a0007c0007t0032g0107 a0007c0007t0032g0107	1	318	0.0031	-5705	c.63 others(12): Show c.6303_*12007del		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	14/14					chr2	TogoVar
GET4_chr7_871554_901436	886049	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0028 a0001c0010t0028	a0001c0010t0028g0051 a0001c0010t0028g0051	1	384	0.0026	0	c.156 others(5): Show c.156-7G>C		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	1/8					chr7	TogoVar
GET4_chr7_871554_901436	886135	GTAAGCCG others(54): Show GTAAGCCGTCTTGCTTCCTCCTGCATCCCTTTCTGCTCCGGGCAGGCAAG TGGAGGTGGGAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0170 a0001c0003t0001g0170	1	384	0.0026	-61	c.234 others(73): Show c.234+3_234+63delAAGCCGTCTTGCTTCCTCCTGCATCCCTTTCTG CTCCGGGCAGGCAAGTGGAGGTGGGAAT		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	2/8				INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	893732	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00544.hp2 HG00621.hp1 others(33): Show HG00408.hp2 HG00544.hp2 HG00621.hp1 HG01361.hp2 HG01978.hp1 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02145.hp1 HG02698.hp1 HG02922.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03704.hp2 NA18906.hp2 NA18944.hp1 NA18948.hp1 NA18954.hp1 NA18962.hp1 NA18971.hp1 NA18973.hp1 NA18984.hp1 NA18998.hp2 NA19005.hp1 NA19056.hp1 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0001c0013 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001 a0001c0012t0002 a0001c0013t0032 a0002c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0002g0002 others(23): Show a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0002g0002 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0242 a0001c0001t0009g0002 a0001c0001t0009g0178 a0001c0001t0010g0191 a0001c0001t0013g0189 a0001c0001t0013g0194 a0001c0001t0016g0002 a0001c0002t0001g0105 a0001c0012t0002g0014 a0001c0013t0032g0014 a0002c0007t0001g0015	36	384	0.0938	0	c.747 others(5): Show c.747-8T>C		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8					chr7	TogoVar
GFER_chr16_1979193_1992749	1984463	GGACGCAG others(14): Show GGACGCAGCAGAAGGTGCAGTT	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0014 a0003c0005t0001g0014	1	426	0.0024	-21	c.246 others(30): Show c.246_258+8delGACGCAGCAGAAGGTGCAGTT	p.Thr others(4): Show p.Thr83fs	GFER	ENSG00000127554.13	transcript	ENST00000248114.7	protein_coding	1/3	272/2365	246/618	82/205		chr16	TogoVar
GFER_chr16_1979193_1992749	1985867	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00408.hp2 HG00423.hp2 HG00609.hp1 others(101): Show HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01257.hp1 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18968.hp1 NA18975.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0020 a0001c0002t0022 a0003c0005t0001	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 others(9): Show a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0002g0002 a0001c0002t0007g0002 a0001c0002t0010g0002 a0001c0002t0011g0002 a0001c0002t0020g0002 a0001c0002t0022g0002 a0003c0005t0001g0014	104	426	0.2441	0	c.457 others(3): Show c.457C>T	p.Leu others(6): Show p.Leu153Leu	GFER	ENSG00000127554.13	transcript	ENST00000248114.7	protein_coding	3/3	483/2365	457/618	153/205		chr16	TogoVar
GFI1B_chr9_132973694_132996687	132986778	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03041.hp1 HG03098.hp2 NA20129.hp1 others(1): Show HG03041.hp1 HG03098.hp2 NA20129.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0002 a0002c0002t0014	a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0209 others(1): Show a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0209 a0002c0002t0014g0070	4	476	0.0084	0	c.100 others(3): Show c.100G>A	p.Val others(5): Show p.Val34Met	GFI1B	ENSG00000165702.15	transcript	ENST00000372122.4	protein_coding	2/7	268/1798	100/993	34/330		chr9	TogoVar
GFI1B_chr9_132973694_132996687	132987426	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	476	0.0021	0	c.238 others(5): Show c.238+7C>T		GFI1B	ENSG00000165702.15	transcript	ENST00000372122.4	protein_coding	3/6					chr9	TogoVar
GFI1_chr1_92468043_92491925	92478757	C C	CAG CAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp2 HG01069.hp1 others(38): Show HG00280.hp1 HG00323.hp2 HG01069.hp1 HG01081.hp2 HG01168.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG02074.hp1 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18970.hp2 NA19002.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19075.hp2 NA19084.hp2 NA20805.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0002t0011 a0001c0003t0005 a0001c0003t0011 a0005c0010t0001	a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0070 others(21): Show a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0002g0151 a0001c0001t0007g0022 a0001c0001t0009g0010 a0001c0001t0016g0024 a0001c0001t0016g0053 a0001c0001t0018g0069 a0001c0001t0019g0025 a0001c0001t0021g0043 a0001c0001t0024g0054 a0001c0001t0030g0071 a0001c0001t0032g0090 a0001c0001t0035g0143 a0001c0001t0036g0089 a0001c0001t0040g0156 a0001c0002t0011g0027 a0001c0003t0005g0051 a0001c0003t0011g0164 a0005c0010t0001g0119	41	342	0.1199	2	c.925 others(13): Show c.925-6_925-5dupCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	C C	CAGAG CAGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG01099.hp2 HG01192.hp1 others(22): Show HG00733.hp1 HG01099.hp2 HG01192.hp1 HG02080.hp1 HG02132.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02738.hp2 HG02818.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp1 NA18959.hp1 NA18960.hp1 NA18979.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19043.hp2 NA19064.hp2 NA19075.hp1 NA19087.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0007 a0004c0008 others(1): Show a0001c0001 a0001c0007 a0004c0008 a0007c0013	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0029 a0001c0007t0001 a0004c0008t0018 a0007c0013t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0035 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0149 a0001c0001t0007g0099 a0001c0001t0007g0150 a0001c0001t0014g0094 a0001c0001t0018g0118 a0001c0001t0029g0117 a0001c0007t0001g0153 a0004c0008t0018g0101 a0007c0013t0001g0064	25	342	0.0731	4	c.925 others(15): Show c.925-8_925-5dupCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	C C	CAGAGAG CAGAGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(145): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0003t0005 a0001c0006t0002 a0001c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0002g0002 a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0002g0088 a0001c0001t0007g0139 a0001c0001t0007g0155 a0001c0001t0010g0023 a0001c0001t0011g0106 a0001c0001t0013g0013 a0001c0001t0014g0140 a0001c0001t0014g0142 a0001c0001t0020g0042 a0001c0001t0027g0137 a0001c0001t0028g0138 a0001c0003t0005g0050 a0001c0006t0002g0167 a0001c0011t0001g0066	148	342	0.4328	6	c.925 others(18): Show c.925-10_925-5dupCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	C C	CAGAGAGA others(1): Show CAGAGAGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG01074.hp1 HG01169.hp1 others(26): Show HG00323.hp1 HG01074.hp1 HG01169.hp1 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02257.hp2 HG02622.hp1 HG02735.hp1 HG02886.hp2 HG02976.hp1 HG03453.hp2 HG03471.hp1 HG03942.hp2 HG04228.hp2 NA18946.hp1 NA18948.hp1 NA18960.hp2 NA18979.hp1 NA18993.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0003t0005 a0001c0006t0002 a0001c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0091 a0001c0001t0001g0092 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0152 a0001c0001t0002g0040 a0001c0001t0002g0065 a0001c0001t0010g0159 a0001c0001t0014g0131 a0001c0001t0015g0011 a0001c0001t0022g0111 a0001c0003t0005g0163 a0001c0006t0002g0133 a0001c0007t0001g0049	29	342	0.0848	8	c.925 others(20): Show c.925-12_925-5dupCTCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00741.hp1 HG01070.hp1 others(24): Show HG00408.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG01358.hp1 HG01433.hp2 HG01891.hp2 HG02132.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02809.hp2 HG02895.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03491.hp2 NA18964.hp2 NA18983.hp2 NA19030.hp2 NA19058.hp2 NA19079.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0031 a0001c0001t0033 a0001c0001t0037 a0001c0003t0005 a0001c0006t0002	a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0061 others(13): Show a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0002g0125 a0001c0001t0004g0008 a0001c0001t0008g0020 a0001c0001t0008g0039 a0001c0001t0008g0109 a0001c0001t0031g0100 a0001c0001t0033g0114 a0001c0001t0037g0127 a0001c0003t0005g0162 a0001c0006t0002g0129	27	342	0.0790	10	c.925 others(22): Show c.925-14_925-5dupCTCTCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01517.hp2 HG02486.hp2 HG02615.hp1 others(3): Show HG01517.hp2 HG02486.hp2 HG02615.hp1 HG02735.hp2 HG03041.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0038 a0001c0001t0001g0113 a0001c0001t0002g0037 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0113 a0001c0001t0002g0037 a0001c0001t0010g0158	6	342	0.0175	12	c.925 others(24): Show c.925-16_925-5dupCTCTCTCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG06807.hp2 NA18906.hp2 HG02055.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	3	342	0.0088	14	c.925 others(26): Show c.925-18_925-5dupCTCTCTCTCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02004.hp2 HG03579.hp2 HG03704.hp1 others(2): Show HG02004.hp2 HG03579.hp2 HG03704.hp1 NA18522.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0009t0044	a0001c0001t0001g0123 a0001c0001t0002g0122 a0001c0001t0002g0170 others(2): Show a0001c0001t0001g0123 a0001c0001t0002g0122 a0001c0001t0002g0170 a0001c0001t0008g0124 a0001c0009t0044g0171	5	342	0.0146	16	c.925 others(28): Show c.925-20_925-5dupCTCTCTCTCTCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0161 a0001c0003t0005g0161	1	342	0.0029	18	c.925 others(30): Show c.925-22_925-5dupCTCTCTCTCTCTCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	CAG CAG	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00423.hp2 HG00544.hp2 others(11): Show HG00140.hp1 HG00423.hp2 HG00544.hp2 HG00639.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02300.hp1 HG02717.hp2 HG02922.hp2 HG03225.hp2 NA18906.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0001t0009 a0001c0001t0022 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0022 a0001c0001t0026 a0001c0002t0006 a0001c0002t0023 a0001c0002t0042 a0003c0005t0006 a0003c0005t0043	a0001c0001t0002g0044 a0001c0001t0009g0059 a0001c0001t0022g0157 others(7): Show a0001c0001t0002g0044 a0001c0001t0009g0059 a0001c0001t0022g0157 a0001c0001t0026g0120 a0001c0002t0006g0016 a0001c0002t0006g0076 a0001c0002t0023g0079 a0001c0002t0042g0075 a0003c0005t0006g0028 a0003c0005t0043g0077	14	342	0.0409	-2	c.925 others(13): Show c.925-6_925-5delCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	CAGAGAG CAGAGAG	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00438.hp2 HG01069.hp2 others(29): Show HG00408.hp1 HG00438.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01943.hp2 HG01981.hp1 HG02040.hp1 HG02257.hp1 HG02258.hp1 HG02723.hp1 HG03041.hp1 HG03209.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18982.hp1 NA19087.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0001t0025 a0001c0001t0041 a0002c0004t0003 a0002c0004t0045	a0001c0001t0001g0144 a0001c0001t0003g0004 a0001c0001t0003g0017 others(12): Show a0001c0001t0001g0144 a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0168 a0001c0001t0012g0030 a0001c0001t0012g0031 a0001c0001t0012g0085 a0001c0001t0017g0026 a0001c0001t0017g0057 a0001c0001t0025g0087 a0001c0001t0041g0083 a0002c0004t0003g0029 a0002c0004t0045g0084	32	342	0.0936	-6	c.925 others(18): Show c.925-10_925-5delCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	CAGAGAGA others(3): Show CAGAGAGAGAG	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	342	0.0029	-10	c.925 others(22): Show c.925-14_925-5delCTCTCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFI1_chr1_92468043_92491925	92478757	CAGAGAGA others(5): Show CAGAGAGAGAGAG	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	342	0.0029	-12	c.925 others(24): Show c.925-16_925-5delCTCTCTCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6					chr1	TogoVar
GFM1_chr3_158639527_158700581	158654637	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	372	0.0027	0	c.108 others(6): Show c.1083+6T>G		GFM1	ENSG00000168827.15	transcript	ENST00000486715.6	protein_coding	8/17					chr3	TogoVar
GFM1_chr3_158639527_158700581	158660871	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	372	0.0027	0	c.122 others(6): Show c.1222-3T>G		GFM1	ENSG00000168827.15	transcript	ENST00000486715.6	protein_coding	9/17					chr3	TogoVar
GFM1_chr3_158639527_158700581	158690141	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 NA18939.hp1 NA18962.hp1 others(4): Show HG01069.hp1 NA18939.hp1 NA18962.hp1 NA19055.hp1 NA19059.hp2 NA19089.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0002g0053 a0001c0001t0003g0190 a0001c0001t0003g0210 others(4): Show a0001c0001t0002g0053 a0001c0001t0003g0190 a0001c0001t0003g0210 a0001c0001t0003g0301 a0002c0002t0001g0151 a0002c0002t0001g0165 a0002c0002t0001g0167	7	372	0.0188	-1	c.191 others(7): Show c.1910-8delT		GFM1	ENSG00000168827.15	transcript	ENST00000486715.6	protein_coding	15/17				INFO_REALIGN_3_PRIME	chr3	TogoVar

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