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 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNAJC25_chr9_111626334_111659345	111641243	CCCCGGCC others(169): Show CCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCTGG GAGGGAGGTGGGGGGGTCAGCCCTCCG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG04199.hp1 HG04204.hp2 others(6): Show HG02071.hp2 HG04199.hp1 HG04204.hp2 NA18953.hp2 NA18977.hp2 NA18994.hp2 NA18995.hp1 NA19005.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 a0001c0001t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 others(6): Show a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0002g0230 a0002c0005t0001g0289	9	412	0.0218	-176	c.337 others(17): Show c.337-5830_337-5655del	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPH7_chr9_137549444_137583925	137565250	ACTGTCTG others(169): Show ACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGATGACT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	340	0.0029	-176	c.641 others(14): Show c.641-272_641-97del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565336	ACTGTCTG others(169): Show ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	340	0.0029	-176	c.641 others(15): Show c.641-358_641-183del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566066	TGGGTGAC others(169): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	340	0.0029	-176	c.641 others(16): Show c.641-1088_641-913del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1293389	CTTGCAGT others(169): Show CTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAG CAAAACTCCATCTCAAACAACAACAACAACAACAACAACAATTAGCCAGG CGTGGTGGCGTGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGA GAATCACTTGAACCCAGGAGGCGGAGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00639.hp1 others(55): Show HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03516.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18949.hp1 NA18966.hp2 NA18982.hp2 NA19043.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0002c0002 a0002c0006 others(3): Show a0001c0001 a0002c0002 a0002c0006 a0003c0004 a0006c0009 a0009c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(52): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0045 a0001c0001t0056 a0001c0001t0057 a0001c0001t0061 a0001c0001t0067 a0001c0001t0074 a0001c0001t0083 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0091 a0001c0001t0103 a0001c0001t0106 a0001c0001t0108 a0001c0001t0119 a0001c0001t0120 a0001c0001t0132 a0002c0002t0002 a0002c0002t0005 a0002c0002t0017 a0002c0002t0018 a0002c0002t0038 a0002c0002t0047 a0002c0002t0048 a0002c0002t0052 a0002c0002t0054 a0002c0002t0055 a0002c0002t0076 a0002c0002t0098 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0128 a0002c0006t0051 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096 a0006c0009t0025 a0009c0008t0041	a0001c0001t0003g0029 a0001c0001t0004g0075 a0001c0001t0005g0041 others(55): Show a0001c0001t0003g0029 a0001c0001t0004g0075 a0001c0001t0005g0041 a0001c0001t0011g0034 a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0028g0129 a0001c0001t0030g0109 a0001c0001t0031g0118 a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0001t0040g0150 a0001c0001t0045g0066 a0001c0001t0056g0085 a0001c0001t0057g0156 a0001c0001t0061g0153 a0001c0001t0067g0121 a0001c0001t0074g0039 a0001c0001t0083g0130 a0001c0001t0086g0060 a0001c0001t0087g0046 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0103g0132 a0001c0001t0106g0003 a0001c0001t0108g0064 a0001c0001t0119g0061 a0001c0001t0120g0024 a0001c0001t0132g0103 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0005g0133 a0002c0002t0017g0097 a0002c0002t0018g0117 a0002c0002t0038g0082 a0002c0002t0047g0104 a0002c0002t0048g0070 a0002c0002t0052g0154 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0076g0146 a0002c0002t0098g0045 a0002c0002t0100g0134 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0128g0054 a0002c0006t0051g0081 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063 a0006c0009t0025g0110 a0009c0008t0041g0140	58	162	0.3580	-176	c.278 others(19): Show c.2780+3389_2780+3564del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERO1B_chr1_236210101_236286958	236245319	TATACACA others(169): Show TATACACACACGTATATATATACGTATATATATACACACGTATATATATA CGTATATATATACACACGTATATATATACGTATATATATACACACGTATA TATATACGTATATATATACACACGTATATATATACGTATATATATACACA CGTATATATATACGTATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	396	0.0025	-176	c.432 others(17): Show c.432-2000_432-1825del	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
EXOC6B_chr2_72170984_72831033	72401494	CATATATA others(169): Show CATATATATATATATATATATACATATATACATATATATATATATATATA TGTGTATATATATATATATATACATATATATATATATACATATATATATA TATATATATGTGTATATATATATATATACATATATATATATATACATATA TACATATATATATATATATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0068 a0001c0002t0005g0068	1	104	0.0096	-176	c.198 others(21): Show c.1981-21800_1981-21625del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
FAM120B_chr6_170301758_170412067	170344047	ACTGGTTC others(169): Show ACTGGTTCCTGAGCAGCCCCACCTTGGAAGAACGGATGAAATCGTTCAGT CCATTCACCTGCACCGTTGCCTGCGGTGCTAGCCTCTCACTCGTTCCTGA GCAGCCCCACCTTGGAAGAACGGATGAAATCGTTCAGTCCATTCACCTGC ACCGTTGCCTGCGGTGCTAGCCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02559.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0102 a0001c0002t0010g0103 a0001c0002t0001g0102 a0001c0002t0010g0103	2	289	0.0069	-176	c.201 others(19): Show c.2018-4013_2018-3838del	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170344327	ACCCACCT others(169): Show ACCCACCTTGGAAGAACGGATGAAATCGTTCAGTCCATTCACCTGCACCG TTGCCTGCGGTGCTAGCCTCTCTCTGGTTCCTGAGCAGCCCCACCTTGGA AGAACGGATGAAATCGTTCAGTCCATTCACCTGCACCGTTGCCTGCGGTG CTAGCCTCTCACTGGTTCCTGAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01069.hp1 others(23): Show HG00639.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01433.hp2 HG01978.hp2 HG02056.hp1 HG02109.hp1 HG02132.hp2 HG02300.hp1 HG02523.hp2 HG03139.hp2 HG03516.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18959.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp2 NA18982.hp1 NA18990.hp1 NA19060.hp2 NA19066.hp1 NA19076.hp1 NA19089.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0001c0002t0004 a0003c0004t0003 others(1): Show a0001c0002t0001 a0001c0002t0004 a0003c0004t0003 a0003c0004t0015	a0001c0002t0001g0024 a0001c0002t0001g0035 a0001c0002t0001g0105 others(22): Show a0001c0002t0001g0024 a0001c0002t0001g0035 a0001c0002t0001g0105 a0001c0002t0004g0027 a0003c0004t0003g0005 a0003c0004t0003g0152 a0003c0004t0003g0153 a0003c0004t0003g0154 a0003c0004t0003g0156 a0003c0004t0003g0157 a0003c0004t0003g0158 a0003c0004t0003g0159 a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 a0003c0004t0003g0163 a0003c0004t0003g0164 a0003c0004t0003g0165 a0003c0004t0003g0166 a0003c0004t0003g0167 a0003c0004t0003g0168 a0003c0004t0003g0169 a0003c0004t0003g0170 a0003c0004t0015g0151 a0003c0004t0015g0155	26	289	0.0900	-176	c.201 others(19): Show c.2018-3723_2018-3548del	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM161A_chr2_61819848_61859060	61848893	TATTTATA others(169): Show TATTTATATATATATTTATATATTTATATATATTTATATATATATATTTA TATATATTTATATATATATTTATATATATATATATTTATATATTTATATA TATTTATATATATATTTATATATTTATATATATTTATATATATATTTATA TATTTATATATATTTATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(127): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02523.hp2 HG02615.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19059.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0001c0013 a0001c0019 others(2): Show a0001c0001 a0001c0013 a0001c0019 a0007c0021 a0013c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0013t0001 a0001c0019t0007 a0007c0021t0004 a0013c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(87): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0161 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0275 a0001c0001t0004g0009 a0001c0001t0004g0020 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0093 a0001c0001t0006g0126 a0001c0001t0006g0128 a0001c0001t0007g0127 a0001c0001t0010g0290 a0001c0001t0010g0291 a0001c0001t0011g0073 a0001c0001t0013g0132 a0001c0013t0001g0105 a0001c0019t0007g0129 a0007c0021t0004g0083 a0013c0015t0001g0082	130	400	0.3250	-176	c.183 others(17): Show c.183+4790_183+4965del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FMN1_chr15_32760544_33199714	32777776	GTATAATA others(169): Show GTATAATACATTTATATATTATGTATAATATAATACATTTATTTATATAT TATGTATAATATATAATACATTAATTATATATTATGTATAATATATAATA CATTATATATTATGTATAATATATAATACATTATATATTATGTATAATAT ATAATACATTATATATTATGTATAATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01070.hp2 others(16): Show HG00140.hp2 HG00408.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp1 HG01261.hp2 HG01884.hp2 HG02083.hp2 HG02135.hp2 HG02615.hp2 HG02647.hp2 HG03139.hp2 HG03239.hp2 HG03654.hp2 HG03704.hp1 NA19091.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0014 a0016 a0027 a0060	a0001c0001 a0001c0002 a0001c0015 others(13): Show a0001c0001 a0001c0002 a0001c0015 a0002c0066 a0003c0004 a0004c0027 a0004c0028 a0005c0044 a0006c0040 a0007c0095 a0008c0021 a0009c0026 a0014c0032 a0016c0087 a0027c0035 a0060c0046	a0001c0001t0043 a0001c0002t0004 a0001c0015t0039 others(14): Show a0001c0001t0043 a0001c0002t0004 a0001c0015t0039 a0001c0015t0077 a0002c0066t0002 a0003c0004t0042 a0004c0027t0002 a0004c0028t0002 a0005c0044t0002 a0006c0040t0002 a0007c0095t0045 a0008c0021t0004 a0009c0026t0004 a0014c0032t0004 a0016c0087t0044 a0027c0035t0004 a0060c0046t0035	a0001c0001t0043g0011 a0001c0002t0004g0023 a0001c0015t0039g0046 others(16): Show a0001c0001t0043g0011 a0001c0002t0004g0023 a0001c0015t0039g0046 a0001c0015t0077g0012 a0002c0066t0002g0045 a0003c0004t0042g0090 a0004c0027t0002g0139 a0004c0028t0002g0088 a0004c0028t0002g0155 a0005c0044t0002g0190 a0006c0040t0002g0185 a0007c0095t0045g0142 a0008c0021t0004g0113 a0009c0026t0004g0089 a0014c0032t0004g0104 a0014c0032t0004g0105 a0016c0087t0044g0020 a0027c0035t0004g0137 a0060c0046t0035g0106	19	196	0.0969	-176	c.413 others(18): Show c.4131-1033_4131-858del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
GABRA2_chr4_46238548_46395128	46377825	TGCCCGGC others(169): Show TGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCAGCTAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCA GGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02615.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0144 a0001c0001t0143 a0001c0001t0144	a0001c0001t0143g0160 a0001c0001t0144g0161 a0001c0001t0143g0160 a0001c0001t0144g0161	2	258	0.0078	-176	c.187 others(17): Show c.187+8073_187+8248del	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRG3_chr15_26966181_27546984	27388070	GAAGGAAG others(169): Show GAAGGAAGGAAGGAAAGGAGGGAGGAAAGGGAGGGAGGGAAAAGAAGGAA GGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAA GGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAA GGAAGGAAAGGGAGGAGGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	92	0.0109	-176	c.574 others(19): Show c.574+59207_574+59382del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT9_chr12_132191372_132334589	132304078	GCCTCACC others(169): Show GCCTCACCGGGGCACACCCTCACCCAGACACAGCCTCACCCGGGCACACC CTCTCCGGGGCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCT CACCCAGACACGCCCTCACCCAGACACGCCCTCACCTGGGCACATCCTCA CCGGGGCACACCCTCACCCAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG01167.hp1 others(10): Show HG00733.hp2 HG01106.hp1 HG01167.hp1 HG01943.hp1 HG02717.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0031 a0001c0036 a0002c0032	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0007t0001 a0001c0014t0003 a0001c0031t0001 a0001c0036t0003 a0002c0032t0002	a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0150 others(10): Show a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0150 a0001c0002t0001g0053 a0001c0002t0001g0081 a0001c0002t0005g0066 a0001c0007t0001g0061 a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 a0001c0031t0001g0038 a0001c0036t0003g0055 a0002c0032t0002g0167	13	183	0.0710	-176	c.239 others(19): Show c.239-17824_239-17649del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304454	CGGGCACA others(169): Show CGGGCACAGCCTCGCCCGGGCACACGCTCACCCAGACACACCCTTGCCCG GGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGCCCAGA CACACCCTCACCGGGGCACACCCTCGCCCGGACACGCCCTCACCCGGGCA CAGCCTCACCCGGGCACAGCCTCACCG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01943.hp1 HG00733.hp2 HG01943.hp1	a0001 a0002 a0001 a0002	a0001c0031 a0002c0032 a0001c0031 a0002c0032	a0001c0031t0001 a0002c0032t0002 a0001c0031t0001 a0002c0032t0002	a0001c0031t0001g0038 a0002c0032t0002g0167 a0001c0031t0001g0038 a0002c0032t0002g0167	2	183	0.0109	-176	c.239 others(19): Show c.239-18200_239-18025del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304574	CCCTCGCC others(169): Show CCCTCGCCCGGACACGCCCTCACCCGGGCACAGCCTCACCCGGGCACAGC CTCACCGGGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGCCT CGCCCGGGCACACCCTCGCCCAGACACACCCTCACCTGGGCACAGCCTCA CCGGGGCACACCCTCACCCAGACACAG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	183	0.0055	-176	c.239 others(19): Show c.239-18320_239-18145del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304622	GCCTCACC others(169): Show GCCTCACCGGGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGC CTCGCCCGGGCACACCCTCGCCCAGACACACCCTCACCTGGGCACAGCCT CACCGGGGCACACCCTCACCCAGACACAGCCTCGCCCGGGCACACCCTCA CCCGGGCACACCCTCGCCCAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	183	0.0055	-176	c.239 others(19): Show c.239-18368_239-18193del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNTL5_chr7_151951446_152024929	151974113	AGTCTCAG others(169): Show AGTCTCAGGTGGTATCCTTATAGCAGTGTGAAAATGAAGTAATATAATAC AGTACCCAATAAACAACAACTCTCCATTTCCCAACCCCAGCACTTCCTGG CAGTCATCATTCTACTTTGTGTGTCTATGAATTTCATTACTTTAAGTACC TCATATAAGTGGAATCATATAGTATTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(171): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0010	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0005c0016 a0006c0006 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0005c0005t0001 a0005c0005t0002 a0005c0016t0002 a0006c0006t0001 a0010c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(169): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0251 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0179 a0001c0001t0002g0311 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0004g0011 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0003c0003t0001g0001 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0057 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0001g0090 a0003c0003t0001g0182 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0204 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0233 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0252 a0003c0003t0001g0255 a0003c0003t0001g0267 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0304 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0002g0111 a0003c0003t0002g0112 a0003c0003t0002g0156 a0003c0003t0002g0167 a0003c0003t0002g0312 a0005c0005t0001g0015 a0005c0005t0001g0257 a0005c0005t0001g0364 a0005c0005t0002g0321 a0005c0016t0002g0322 a0006c0006t0001g0349 a0006c0006t0001g0350 a0010c0010t0001g0253 a0010c0010t0001g0254	174	384	0.4531	-176	c.368 others(17): Show c.368+3053_368+3228del	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GINS3_chr16_58387471_58411147	58396061	GGACGGGG others(169): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCTTGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTACCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	434	0.0023	-176	c.186 others(17): Show c.186+3294_186+3469del	GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
GINS3_chr16_58387471_58411147	58396860	CCCGGACG others(169): Show CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCTTC CCGGACGGGGCGGCTGGCCGGGCAGAGGTGCTCCTCACATCCCAGTAGGG GTGGCCGGGCAGAGGCGCCCCTCACCTCCAGGAGAGGGCGGCTGGCTGGG CGGGGGGCTGACCCCCCCACCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp2 HG02145.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	2	434	0.0046	-176	c.186 others(17): Show c.186+4080_186+4255del	GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
GLYR1_chr16_4798203_4852288	4851663	AGAAAAAA others(169): Show AGAAAAAATTAGCCAGGCATGGTGGGATATACCTGTAGTCTCAGCTCCTC GAGAGGTTGAAGTGGTGAGAGGTTTGCTTGAGCCTGGGAGGTTGAGGCTG AAGTGGCTGTGATTGGGCCACTGCTCTCTAGCCTGGATATAACAGCGAGA CCCTAGCTCAAAAAAAAAAGAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0314 a0001c0002t0001g0314	1	352	0.0028	-176	c.-45 others(11): Show c.-4574_-4399del	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding		4376		chr16	TogoVar
GNAQ_chr9_77711097_78036811	77762318	CGGCCAGC others(169): Show CGGCCAGCCGCCCCACCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCACCCCATCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00642.hp1 others(28): Show HG00099.hp1 HG00323.hp2 HG00642.hp1 HG00735.hp2 HG01255.hp2 HG01261.hp1 HG01884.hp1 HG02109.hp2 HG02486.hp1 HG02615.hp2 HG02683.hp2 HG02809.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03831.hp2 HG04115.hp2 HG04228.hp1 NA18906.hp1 NA18949.hp2 NA18954.hp1 NA18986.hp2 NA18990.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0074 a0001c0001t0088	a0001c0001t0001g0058 a0001c0001t0001g0148 a0001c0001t0001g0182 others(28): Show a0001c0001t0001g0058 a0001c0001t0001g0148 a0001c0001t0001g0182 a0001c0001t0001g0204 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0009g0034 a0001c0001t0009g0082 a0001c0001t0009g0087 a0001c0001t0011g0022 a0001c0001t0011g0024 a0001c0001t0011g0025 a0001c0001t0011g0026 a0001c0001t0011g0028 a0001c0001t0014g0225 a0001c0001t0014g0235 a0001c0001t0014g0242 a0001c0001t0014g0264 a0001c0001t0016g0007 a0001c0001t0016g0008 a0001c0001t0016g0009 a0001c0001t0024g0023 a0001c0001t0024g0027 a0001c0001t0037g0011 a0001c0001t0038g0004 a0001c0001t0039g0003 a0001c0001t0074g0250 a0001c0001t0088g0282	31	282	0.1099	-176	c.735 others(19): Show c.735+31969_735+32144del	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	5/6			chr9	TogoVar
GNG12_chr1_67696475_67838467	67709938	ATATATAT others(169): Show ATATATATATAGTTATATATATAGTTATATATATAGTTATATATATATAG TTATATATATAGTTATATATATAGTTATATATATAGTTATATATATATAG TTATATATATAGTTATATATATATAGTTATATATATAGTTATATATATAT AGTTATATATATAGTTATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19005.hp1 HG01074.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0176 a0001c0001t0002g0140 a0001c0001t0002g0176	2	274	0.0073	-176	c.-26 others(17): Show c.-26-2402_-26-2227del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GNS_chr12_64708449_64764406	64741047	TAGAAAAT others(169): Show TAGAAAATGGGCAAATAGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(266): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18975.hp1 NA18984.hp1 NA18984.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0005 a0003c0008 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0004t0005 a0001c0006t0011 a0002c0005t0004 a0003c0008t0003 a0004c0007t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(250): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 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 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0304 a0001c0001t0001g0311 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0153 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0244 a0001c0001t0003g0267 a0001c0001t0003g0270 a0001c0001t0003g0285 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0004g0007 a0001c0001t0004g0099 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0006g0118 a0001c0001t0006g0132 a0001c0001t0006g0134 a0001c0001t0006g0136 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0142 a0001c0001t0006g0290 a0001c0001t0007g0008 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0008g0128 a0001c0001t0008g0129 a0001c0001t0008g0130 a0001c0001t0008g0131 a0001c0001t0009g0133 a0001c0001t0009g0137 a0001c0001t0009g0141 a0001c0001t0010g0187 a0001c0001t0010g0188 a0001c0001t0010g0289 a0001c0001t0011g0106 a0001c0001t0013g0135 a0001c0001t0013g0138 a0001c0001t0015g0018 a0001c0001t0016g0017 a0001c0001t0021g0330 a0001c0002t0001g0028 a0001c0002t0001g0036 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0070 a0001c0002t0001g0079 a0001c0002t0004g0051 a0001c0004t0005g0119 a0001c0004t0005g0120 a0001c0004t0005g0121 a0001c0004t0005g0122 a0001c0004t0005g0123 a0001c0004t0005g0124 a0001c0004t0005g0125 a0001c0004t0005g0126 a0001c0004t0005g0127 a0001c0004t0005g0292 a0001c0006t0011g0332 a0001c0006t0011g0333 a0002c0005t0004g0063 a0002c0005t0004g0100 a0002c0005t0004g0101 a0002c0005t0004g0102 a0002c0005t0004g0109 a0002c0005t0004g0110 a0002c0005t0004g0111 a0003c0008t0003g0318 a0004c0007t0019g0064	269	352	0.7642	-176	c.793 others(15): Show c.793-535_793-360del	GNS	ENSG00000135677.11	transcript	ENST00000258145.8	protein_coding	6/13			chr12	TogoVar
GRIN1_chr9_137134154_137173756	137144708	GGTCTAGA others(169): Show GGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACAGGAGTGAGAGGAAGGGG GTCCCAGGGTCCAGAAAGTGTCCCCAGGGTGGTAGGGACAGGGGTGGGAG ACACGAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGTGGCAGGGATG GGATGGGAGACACGAGGGGGTCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01884.hp2 others(12): Show HG00544.hp1 HG00544.hp2 HG01884.hp2 HG02258.hp1 HG02818.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03471.hp2 HG03669.hp2 HG06807.hp1 NA18906.hp2 NA18960.hp2 NA18999.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044 others(11): Show a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0168 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0007t0001g0261	15	298	0.0503	-176	c.394 others(15): Show c.394-986_394-811del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137144743	AGTGAGAG others(169): Show AGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGGGTGGTAG GGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAAAGTGTCCCC AGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCCCAGAGTCTAGAA AGTGTCCCCAGGGGTGTGGGGACCGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02280.hp2 NA18971.hp1 HG00099.hp1 HG02280.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0245 a0001c0001t0001g0268 a0001c0001t0001g0206 a0001c0001t0001g0245 a0001c0001t0001g0268	3	298	0.0101	-176	c.394 others(15): Show c.394-941_394-766del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137144785	GGTGGTAG others(169): Show GGTGGTAGGGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAAA GTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCCCAGA GTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGG TCCCAGGGTCCAGAAAGTGTCCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01884.hp1 others(2): Show HG01516.hp2 HG01517.hp2 HG01884.hp1 HG02451.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(2): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0190 a0001c0001t0001g0191	5	298	0.0168	-176	c.394 others(15): Show c.394-939_394-764del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRTP1_chr13_113319163_113369130	113346258	GCAGATCC others(169): Show GCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGT GGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGA GGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAG ACCTGGGAAGACATCTGTGGCCGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp2 HG03239.hp1 HG00735.hp2 HG02886.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0101 a0001c0001t0001g0218 a0001c0001t0003g0175 a0001c0001t0001g0101 a0001c0001t0001g0218 a0001c0001t0003g0175	3	288	0.0104	-176	c.466 others(17): Show c.466-1475_466-1300del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346282	CTGAGCGG others(169): Show CTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGAC CTCTGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGAC CTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGA GAACAGACCCAGGAGGACCTCTGTGGA	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	288	0.0035	-176	c.466 others(17): Show c.466-1499_466-1324del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346907	TGAGAGCG others(169): Show TGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACC TCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03669.hp2 HG01081.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0219 a0001c0001t0001g0139 a0001c0001t0001g0219	2	288	0.0069	-176	c.466 others(17): Show c.466-2124_466-1949del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
H4C12_chr6_27826174_27836560	27826804	CGGCCGGG others(169): Show CGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	-176	c.42 others(11): Show c.4236_*4411del	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		4369		chr6	TogoVar
HACE1_chr6_104723094_104864919	104727547	GTATGTAT others(169): Show GTATGTATATGAATACACACACACGTATGTATATGAATACACACACACGT ATGTATATGAATACACACACACGTATGTATATGAATACATACACACGTAT GTATATGAATACATACACACGTATGTATATGAATACATACACACATATAT ATGTATATGAATATATACACACATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01081.hp2 others(50): Show HG00323.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01952.hp1 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp1 NA18906.hp1 NA18942.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0001 a0001c0001t0001g0218 a0001c0001t0001g0219 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0008g0344	53	346	0.1532	-176	c.19 others(11): Show c.1939_*2114del	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		546		chr6	TogoVar
HCN3_chr1_155272463_155294848	155275281	TTGCACTC others(169): Show TTGCACTCCAGCCTGGGCGACAGAGTGAGACTGTGTCTAAAATAAAATAA AATAAAAAATAAAAATTAGCCATTCATGGTGTCTCCCACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTGGGGAGGTTGA GGCTGTAGTGACCCGTGATCGTGCCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	339	0.0030	-176	c.-23 others(11): Show c.-2309_-2134del	HCN3	ENSG00000143630.10	transcript	ENST00000368358.4	protein_coding		2181		chr1	TogoVar
HGSNAT_chr8_43135464_43207855	43179595	TCCAGTAG others(169): Show TCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG ACTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCAGGTGGGGGGATGACCCCCCCACCTCCCTCCCGGGCGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp1 HG03654.hp2 others(1): Show HG00099.hp2 HG01071.hp1 HG03654.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0186 a0001c0001t0006g0223 a0001c0001t0006g0224 others(1): Show a0001c0001t0006g0186 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225	4	234	0.0171	-176	c.101 others(19): Show c.1012+1404_1012+1579del	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
IBA57_chr1_228160804_228187257	228174111	GGCTGTGG others(169): Show GGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCG CTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCT GTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGT GGGCGTGGCTCGCTGTGGGCGTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03471.hp2 HG03540.hp1 HG01261.hp1 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0045 a0001c0001t0047 a0001c0001t0024 a0001c0001t0045 a0001c0001t0047	a0001c0001t0024g0125 a0001c0001t0045g0182 a0001c0001t0047g0206 a0001c0001t0024g0125 a0001c0001t0045g0182 a0001c0001t0047g0206	3	416	0.0072	-176	c.342 others(15): Show c.342-356_342-181del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBA57_chr1_228160804_228187257	228174336	GCTGTGGG others(169): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(30): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp2 HG02132.hp2 HG02886.hp2 HG03209.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 NA18945.hp1 NA18947.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18977.hp1 NA18980.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA18998.hp1 NA19012.hp2 NA19087.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0005c0006	a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 others(21): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0035 a0001c0001t0052 a0001c0001t0057 a0001c0001t0105 a0001c0001t0108 a0001c0009t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0014 a0002c0002t0030 a0002c0002t0031 a0002c0002t0034 a0002c0002t0050 a0002c0002t0054 a0002c0002t0087 a0002c0002t0103 a0002c0002t0118 a0002c0002t0119 a0002c0002t0122 a0002c0002t0156 a0005c0006t0080	a0001c0001t0006g0041 a0001c0001t0009g0024 a0001c0001t0021g0045 others(27): Show a0001c0001t0006g0041 a0001c0001t0009g0024 a0001c0001t0021g0045 a0001c0001t0035g0154 a0001c0001t0052g0091 a0001c0001t0057g0204 a0001c0001t0105g0090 a0001c0001t0108g0045 a0001c0009t0005g0024 a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0158 a0002c0002t0001g0171 a0002c0002t0003g0041 a0002c0002t0003g0152 a0002c0002t0014g0013 a0002c0002t0030g0006 a0002c0002t0030g0013 a0002c0002t0031g0006 a0002c0002t0034g0006 a0002c0002t0034g0150 a0002c0002t0050g0073 a0002c0002t0054g0201 a0002c0002t0087g0006 a0002c0002t0103g0159 a0002c0002t0118g0162 a0002c0002t0119g0013 a0002c0002t0122g0006 a0002c0002t0156g0006 a0005c0006t0080g0024	33	416	0.0793	-176	c.342 others(15): Show c.342-352_342-177del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL10_chr1_206762602_206777494	206777167	CTTGCAGT others(169): Show CTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTTAGCTAGG TGTGGTGGTTGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAA GAATGGCGTGAACCTGGGAGGCGGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA19030.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	452	0.0044	-176	c.-49 others(11): Show c.-4908_-4733del	IL10	ENSG00000136634.7	transcript	ENST00000423557.1	protein_coding		4674		chr1	TogoVar
IL19_chr1_206765773_206847981	206777167	CTTGCAGT others(169): Show CTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTTAGCTAGG TGTGGTGGTTGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAA GAATGGCGTGAACCTGGGAGGCGGAGG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19030.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0153 a0001c0001t0006g0118 a0001c0001t0006g0153	2	366	0.0055	-176	c.-14 others(19): Show c.-149+6172_-149+6347del	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNJ5_chr11_128886356_128926163	128916029	AATGGATG others(169): Show AATGGATGGATGGATGGATGGCTATATCTTTGCCCTTTCCTGCCTTTTTT TCCATATCTGGATGGATAGATAATTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATATATCTTTGCCCTTTCCTGCCTTTTTTTCCA TATCTGGATGGATGGATGGTTGGATGG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19078.hp2 NA19011.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0164 a0001c0001t0002 a0001c0001t0164	a0001c0001t0002g0121 a0001c0001t0164g0132 a0001c0001t0002g0121 a0001c0001t0164g0132	2	460	0.0044	-176	c.938 others(15): Show c.938-359_938-184del	KCNJ5	ENSG00000120457.12	transcript	ENST00000529694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNK9_chr8_139612121_139708123	139677721	CAGCCCAA others(169): Show CAGCCCAACGGGTCCCTACAGCTTCAGAGTAATACCTCACATCTGATCCC AATGTGTCCCCATGGCTGCAGAGTAATACCTCACCTCCCAGCCCAACAGG TCCCCACAGCTGCAGAGTAGTACCTCACATCCCAGCCCAAGGGGTCCCCA TGGCTGCAGAGGAATGCCTCACATCTG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	322	0.0031	-176	c.283 others(19): Show c.283+24813_283+24988del	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KIAA1958_chr9_112481827_112674397	112515083	GGGGGGGT others(169): Show GGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGAAGGTGGGGGGGTCAGCCCCCCACCCG GCCAGCCGCCCTGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02738.hp2 HG03831.hp2 others(10): Show HG02071.hp2 HG02738.hp2 HG03831.hp2 HG03942.hp1 NA18955.hp2 NA18960.hp2 NA18965.hp2 NA18971.hp2 NA18988.hp2 NA19003.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0004	a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 others(10): Show a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0153 a0001c0001t0002g0243 a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0167 a0001c0001t0012g0152 a0001c0001t0012g0154 a0001c0001t0012g0155 a0001c0001t0012g0156 a0001c0002t0004g0172	13	308	0.0422	-176	c.-25 others(19): Show c.-25+27972_-25+28147del	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112515094	CCCCCCCG others(169): Show CCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGAAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19000.hp1 NA19087.hp2 HG04228.hp2 NA19000.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0157 a0001c0001t0021g0135 a0001c0001t0021g0136 a0001c0001t0003g0157 a0001c0001t0021g0135 a0001c0001t0021g0136	3	308	0.0097	-176	c.-25 others(19): Show c.-25+27983_-25+28158del	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KLHDC4_chr16_87702812_87770986	87732988	TAGGTGAA others(169): Show TAGGTGAAAAGGCAGGTGCAAAGCAAATCCTATCCCAGCTTCTATCGGTG AAAAGGCAGGTGCAAAGCAAATCCTATCCCAGCTTTTATCGGTGAAAAGG CAGGTGCAAAGCAAATCCTATCCCAGCTTCTATCGGTGAAAAGGCAGGTG CAAAGCAAATCCTATCCCAGCTTCTAC	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	380	0.0026	-176	c.507 others(17): Show c.507-2520_507-2345del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LIPG_chr18_49557057_49604185	49579021	GGAGAGGG others(169): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0049 a0001c0001t0076g0049	1	384	0.0026	-176	c.794 others(17): Show c.794-2390_794-2215del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF2_chr22_50497949_50512702	50504098	CCCCCCCA others(169): Show CCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0020 a0002c0004t0004g0020	2	414	0.0048	-176	c.171 others(16): Show c.1718+66_1719-195del	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRBA_chr4_150259435_151020284	150659873	CGGCCAGC others(169): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTTTGGGAGGTGAAGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp1 HG03579.hp1 others(1): Show HG01243.hp1 HG02965.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0026 a0001c0007 a0001c0026	a0001c0007t0003 a0001c0026t0003 a0001c0007t0003 a0001c0026t0003	a0001c0007t0003g0165 a0001c0007t0003g0166 a0001c0007t0003g0167 others(1): Show a0001c0007t0003g0165 a0001c0007t0003g0166 a0001c0007t0003g0167 a0001c0026t0003g0059	4	180	0.0222	-176	c.592 others(21): Show c.5921+23502_5921+23677del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRRC74A_chr14_76821408_76875304	76821709	CCCCCGCC others(169): Show CCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCTGGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGATCAGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0379 a0003c0003t0001g0379	1	408	0.0025	-176	c.-49 others(11): Show c.-4988_-4813del	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4698		chr14	TogoVar
MAP3K15_chrX_19355059_19520508	19452175	GAAGAGAA others(169): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0142 a0002c0003t0007g0142	1	163	0.0061	-176	c.995 others(17): Show c.995+4562_995+4737del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452205	GAAGAGAA others(169): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAG AGAAGAGAAGAGAAGAGAAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0023 a0002c0003t0005g0023	1	163	0.0061	-176	c.995 others(17): Show c.995+4532_995+4707del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MCUB_chr4_109555246_109693719	109597442	GGCTGGCC others(169): Show GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGATGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	336	0.0030	-176	c.99+ others(17): Show c.99+37029_99+37204del	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 10000 hits)