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
RYK_chr3_134152133_134255859	134161747	AGATACTG others(164): Show AGATACTGAATTCACAATTCAAAACCTTTCCACAAAGAAAACTCAACACT GTTTGGTGAATTCTATCAAACTTGAAAGAAAATATAAATCTGTATTAGTT TTCTAGGGCTACCATAATAACATACCACAAACGAGTAGTTTAAACAACAG AAATTTATTGTCCCACTGCTCT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	376	0.0027	-171	c.157 others(19): Show c.1576-2545_1576-2375del	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	13/14			chr3	TogoVar
RYR2_chr1_237037184_237838988	237536637	TCCGGGAG others(164): Show TCCGGGAGGCGGAGGTTGCAGTGAGCCGCGATAGTGCCACTGCACTCCAG CCCGGACGACAGAGCGAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA TTAGCCGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTAGGGAGGCT GAGGCAGGAGAATGGCGTGAAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0021 a0002c0035t0021	a0002c0035t0021g0010 a0002c0035t0021g0010	1	100	0.0100	-171	c.290 others(19): Show c.2906+6141_2906+6311del	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	25/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	TTACAGTA others(164): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(76): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02071.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03710.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp2 NA18942.hp2 NA18962.hp2 NA18978.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19067.hp1 NA19070.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0018 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0040	a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0002g0065 others(75): Show a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0006g0003 a0001c0001t0006g0006 a0001c0001t0006g0127 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0011g0158 a0001c0001t0018g0139 a0001c0001t0018g0140 a0001c0001t0022g0128 a0001c0001t0022g0129 a0001c0001t0026g0172 a0001c0001t0028g0114 a0001c0001t0040g0107	79	332	0.2380	-171	c.632 others(17): Show c.632+8142_632+8312del	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1288921	TCCCCCGT others(164): Show TCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGAGTCTCTGCTCCGTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	290	0.0035	-171	c.166 others(18): Show c.1662+889_1662+1059del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281469	GGACGCCC others(164): Show GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18522.hp2 NA20300.hp2 HG01891.hp2 NA18522.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0011 a0001c0001t0001 a0002c0002t0002 a0002c0002t0011	a0001c0001t0001g0304 a0002c0002t0002g0180 a0002c0002t0011g0179 a0001c0001t0001g0304 a0002c0002t0002g0180 a0002c0002t0011g0179	3	330	0.0091	-171	c.970 others(19): Show c.970-21507_970-21337del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282201	GGACGCCT others(164): Show GGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03834.hp1 HG02615.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0318 a0001c0001t0007g0302 a0001c0001t0002g0318 a0001c0001t0007g0302	2	330	0.0061	-171	c.970 others(19): Show c.970-20775_970-20605del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282244	GGACGCCC others(164): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	330	0.0030	-171	c.970 others(19): Show c.970-20732_970-20562del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A31_chr16_89190761_89205537	89192580	ACGCCGCT others(164): Show ACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCGTCATT ACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCC CCTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAAC CCCGCCCCCTCATTACCAGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01261.hp1 HG01952.hp2 others(1): Show HG01123.hp2 HG01261.hp1 HG01952.hp2 HG02273.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0007 a0002c0007t0001g0071 a0002c0007t0001g0007 a0002c0007t0001g0071	4	428	0.0094	-171	c.32 others(11): Show c.3248_*3418del	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding		3180		chr16	TogoVar
SLC22A31_chr16_89190761_89205537	89192637	ACGCCGCT others(164): Show ACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATT ACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCC CCTCATTACCAGCCTCGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAAC CCCGCCCCCTCATTACCAGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp2 others(71): Show HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18947.hp1 NA18969.hp1 NA18972.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA19056.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19076.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp1	a0002 a0004 a0011 others(1): Show a0002 a0004 a0011 a0018	a0002c0004 a0002c0007 a0002c0017 others(4): Show a0002c0004 a0002c0007 a0002c0017 a0004c0006 a0004c0009 a0011c0019 a0018c0024	a0002c0004t0001 a0002c0007t0001 a0002c0017t0001 others(4): Show a0002c0004t0001 a0002c0007t0001 a0002c0017t0001 a0004c0006t0001 a0004c0009t0001 a0011c0019t0001 a0018c0024t0001	a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0027 others(12): Show a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0027 a0002c0004t0001g0032 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0070 a0002c0004t0001g0072 a0002c0007t0001g0007 a0002c0017t0001g0069 a0004c0006t0001g0006 a0004c0006t0001g0029 a0004c0009t0001g0008 a0011c0019t0001g0073 a0018c0024t0001g0074	74	428	0.1729	-171	c.31 others(11): Show c.3191_*3361del	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding		3123		chr16	TogoVar
SLC9A3_chr5_465456_529449	474624	AGGAGAGA others(164): Show AGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTGC GGAGAGGGGTTAGGCGGGGAGAGAGAGAGCGAGCCAGGTTCAGGTCCAGG GAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTG CGGAGAGGGGTTAGGCGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01261.hp1 HG02004.hp2 others(8): Show HG00642.hp2 HG01261.hp1 HG02004.hp2 HG02132.hp2 HG02148.hp1 HG02895.hp1 NA18957.hp1 NA19081.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0008	a0001c0001 a0001c0026 a0001c0027 others(3): Show a0001c0001 a0001c0026 a0001c0027 a0004c0012 a0006c0015 a0008c0023	a0001c0001t0007 a0001c0001t0012 a0001c0001t0022 others(5): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0022 a0001c0026t0012 a0001c0027t0007 a0004c0012t0013 a0006c0015t0007 a0008c0023t0007	a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 others(8): Show a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0012g0182 a0001c0001t0022g0070 a0001c0026t0012g0212 a0001c0027t0007g0136 a0004c0012t0013g0054 a0004c0012t0013g0132 a0006c0015t0007g0004 a0008c0023t0007g0147	11	218	0.0505	-171	c.250 others(16): Show c.2501+88_2501+258del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16			chr5	TogoVar
SORCS2_chr4_7187538_7747827	7441812	CACCCTCC others(164): Show CACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCA GCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCACCCC CTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCC TCCACCCCCTCCCCCAGCCCAG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp2 NA18906.hp1 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0010 a0009c0025 a0001c0010 a0009c0025	a0001c0010t0076 a0009c0025t0031 a0001c0010t0076 a0009c0025t0031	a0001c0010t0076g0163 a0009c0025t0031g0025 a0001c0010t0076g0163 a0009c0025t0031g0025	2	168	0.0119	-171	c.548 others(19): Show c.548+45459_548+45629del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRL_chr16_4184374_4247080	4211497	TAATGATG others(164): Show TAATGATGAGGATCGTGATGATGATGATGGTGATGATGATGGTGATGACC GTGCCGATGATGAGGATCGTGATGATGATGATGATGGTGATGATGGTGAT GGTGATGACCGTGCCGATGATGAGGGTCGTGATGATGATGATGATGGTGA TGATGATGGTGATGACCGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02886.hp2 others(4): Show HG02257.hp1 HG02717.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp2 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0075 a0001c0001t0006g0045 a0001c0001t0008g0079 others(4): Show a0001c0001t0001g0075 a0001c0001t0006g0045 a0001c0001t0008g0079 a0001c0001t0008g0268 a0001c0001t0010g0056 a0001c0001t0010g0078 a0001c0001t0012g0077	7	358	0.0196	-171	c.62- others(15): Show c.62-7034_62-6864del	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
TARS3_chr15_101648596_101729473	101655385	GCTCACAG others(164): Show GCTCACAGTGACTCCACCTGGCACTAGGGCGCAAATGAGAGCGGGGAGCT CTTACAGGCTCACAGTGACTCCACCTGGCACTAGGGCGCAAATGAGAGCG GGGAGCTCTTACAGGCTCACACTGACCCCACCTGGCACTAGGGCGCAAAT GAGAGCGGGGAGCTCTTACAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02630.hp1 others(1): Show HG02451.hp2 HG02486.hp1 HG02630.hp1 HG03098.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0231 a0003c0006t0002g0232 a0003c0006t0002g0252 others(1): Show a0003c0006t0002g0231 a0003c0006t0002g0232 a0003c0006t0002g0252 a0003c0006t0002g0253	4	278	0.0144	-171	c.226 others(17): Show c.2261-826_2261-656del	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	18/18			chr15	TogoVar
TCF3_chr19_1604292_1657615	1627982	GGGGTGAG others(164): Show GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCG GGAAGGGGACAGCAGAACTCAC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0197 a0001c0002t0013g0197	1	352	0.0028	-171	c.299 others(15): Show c.299-727_299-557del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627987	GAGGCGGG others(164): Show GAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAG GGGACAGCAGAACTCACGGGGT	G G	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0144 a0001c0003t0028g0144	1	352	0.0028	-171	c.299 others(15): Show c.299-732_299-562del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THOP1_chr19_2780503_2820807	2818051	TCAGAGCA others(164): Show TCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACC AAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGC AGGTGACAAGGGTGACTAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02015.hp1 HG02132.hp2 others(23): Show HG01109.hp2 HG02015.hp1 HG02132.hp2 HG02572.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp2 NA18906.hp1 NA18941.hp1 NA18948.hp1 NA18949.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18984.hp1 NA18988.hp2 NA18999.hp1 NA19004.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0021	a0001c0001t0001g0176 a0001c0001t0002g0004 a0001c0001t0002g0012 others(14): Show a0001c0001t0001g0176 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0158 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0005g0006 a0001c0001t0007g0004 a0001c0001t0019g0180 a0001c0001t0021g0040	26	370	0.0703	-171	c.47 others(11): Show c.4776_*4946del	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2245		chr19	TogoVar
TIMD4_chr5_156914292_156968226	156931845	AAGATACT others(164): Show AAGATACTTTCCTTCTCTGAGCCATAGTTTCTTCATCTGAAAATATTAAT ATTTCACCAACTGATCTCCTATATCCTTTTTAACCTTTCTAATTCTGGAT ATCTTTTTTCAAAGAATTTTACTGAGAAAAATTATCATTACACAGTATTC TTTTAAAAGGATATAAAACTAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01069.hp2 HG01071.hp2 others(14): Show HG00597.hp2 HG01069.hp2 HG01071.hp2 HG03098.hp2 HG03704.hp2 NA18941.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18978.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0257 others(13): Show a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0281 a0001c0001t0002g0282	17	312	0.0545	-171	c.845 others(17): Show c.845-5704_845-5534del	TIMD4	ENSG00000145850.9	transcript	ENST00000274532.7	protein_coding	5/8			chr5	TogoVar
TM2D3_chr15_101636848_101657381	101655385	GCTCACAG others(164): Show GCTCACAGTGACTCCACCTGGCACTAGGGCGCAAATGAGAGCGGGGAGCT CTTACAGGCTCACAGTGACTCCACCTGGCACTAGGGCGCAAATGAGAGCG GGGAGCTCTTACAGGCTCACACTGACCCCACCTGGCACTAGGGCGCAAAT GAGAGCGGGGAGCTCTTACAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02630.hp2 others(1): Show HG02451.hp1 HG02486.hp2 HG02630.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0049 a0001c0001t0001g0021 a0001c0001t0001g0049	4	422	0.0095	-171	c.-31 others(11): Show c.-3195_-3025del	TM2D3	ENSG00000184277.13	transcript	ENST00000333202.8	protein_coding		3005		chr15	TogoVar
TMCO3_chr13_113486021_113555229	113541435	GAGATATG others(164): Show GAGATATGTGGATGATACGCACACGATCGCTGATCACTGCCATGCTTTAT TACCGCCGAGATGTGTGGATGATACGCACACGATTGCTGATCACTGCCAT GCTTTATTACCGCTGAGTTGTGTGGGTGCCATGCACACGATTGCTGATGA CTGCCATGCTTTATTACCGTCC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03516.hp2 NA20300.hp2 HG02717.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0305 a0001c0009t0004g0306 a0001c0009t0004g0307 a0001c0009t0004g0305 a0001c0009t0004g0306 a0001c0009t0004g0307	3	368	0.0082	-171	c.169 others(19): Show c.1690+1933_1690+2103del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113541633	TGCTGATC others(164): Show TGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATACGC ACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGAT GATACGCACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATG TGTGGATGATACGCACACGATC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0308 a0012c0017t0001g0308	1	368	0.0027	-171	c.169 others(19): Show c.1690+2295_1690+2465del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132C_chr12_128262170_128712911	128648728	AGTGTGTT others(164): Show AGTGTGTTTACTGGAGTCCATTGGCGTTGGATGTGAGTGTGTTTAGCTCA GTCCATCAGCGTTGGATGAGTGTGTTTACTAGAGTCCATCAGCATTGGAT GTGAGTGTGTTTACTGGAGTCCATCAGCATTGGATGAGTGTGTTTACTGG AGTCCATCAGCATTGGATATGG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0005 a0005	a0005c0050 a0005c0050	a0005c0050t0001 a0005c0050t0001	a0005c0050t0001g0034 a0005c0050t0001g0034	1	170	0.0059	-171	c.130 others(21): Show c.1306-20668_1306-20498del	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM184B_chr22_38214291_38278010	38229609	AGCTGGAT others(164): Show AGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCCAGGAAG CTAGAGTGGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGCCAGCC CAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAG GTCAGCCCAGGAAGCTAGAGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03041.hp2 HG03453.hp2 others(3): Show HG00639.hp2 HG03041.hp2 HG03453.hp2 HG03540.hp1 HG03669.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0001t0029 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0029 a0001c0004t0017 a0001c0004t0027 a0001c0004t0028	a0001c0001t0001g0226 a0001c0001t0011g0195 a0001c0001t0029g0087 others(3): Show a0001c0001t0001g0226 a0001c0001t0011g0195 a0001c0001t0029g0087 a0001c0004t0017g0021 a0001c0004t0027g0193 a0001c0004t0028g0283	6	354	0.0170	-171	c.525 others(16): Show c.525+889_525+1059del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8			chr22	TogoVar
TRIML1_chr4_188134441_188152743	188152353	AGGGGGTG others(164): Show AGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGA GAGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAG AGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGG GGTGAGAAGGGAAGTGAGAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	228	0.0044	-171	c.49 others(11): Show c.4982_*5152del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4611		chr4	TogoVar
TRIO_chr5_14138342_14515204	14403417	TGTGGTGA others(164): Show TGTGGTGAGGGTGTAGGTTGTGGTGAGGGTGTAGGTTGTGGTGAGGGTGC AGGTTGTGGTGAGGGTGCAGGTGGTGGTGGTGAGGGTGTAGGTGGTGGTG GTGAGGGTGCAGGTTGTGGTGAGGGTGCAGGTTGTGAGGGTGCAGGTTGT GGTGGTGAGGGTGTAGGTTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG01069.hp2 others(35): Show HG00140.hp1 HG00408.hp2 HG01069.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02109.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp2 NA18950.hp2 NA18968.hp1 NA18970.hp1 NA19011.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0013 a0017	a0001c0002 a0001c0004 a0001c0007 others(12): Show a0001c0002 a0001c0004 a0001c0007 a0001c0015 a0001c0023 a0001c0027 a0001c0029 a0001c0031 a0001c0050 a0001c0051 a0002c0022 a0003c0012 a0006c0046 a0013c0043 a0017c0021	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0010 a0001c0007t0001 a0001c0015t0001 a0001c0023t0001 a0001c0027t0001 a0001c0029t0001 a0001c0031t0002 a0001c0050t0001 a0001c0051t0001 a0002c0022t0003 a0003c0012t0005 a0006c0046t0001 a0013c0043t0002 a0017c0021t0001	a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0046 others(35): Show a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0079 a0001c0002t0001g0095 a0001c0002t0001g0100 a0001c0002t0002g0015 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0068 a0001c0002t0004g0063 a0001c0004t0010g0003 a0001c0004t0010g0005 a0001c0007t0001g0045 a0001c0007t0001g0047 a0001c0007t0001g0048 a0001c0007t0001g0053 a0001c0007t0001g0087 a0001c0015t0001g0176 a0001c0015t0001g0181 a0001c0023t0001g0012 a0001c0027t0001g0105 a0001c0029t0001g0143 a0001c0031t0002g0031 a0001c0050t0001g0191 a0001c0051t0001g0032 a0002c0022t0003g0118 a0003c0012t0005g0009 a0003c0012t0005g0010 a0003c0012t0005g0011 a0006c0046t0001g0052 a0013c0043t0002g0077 a0017c0021t0001g0062	38	198	0.1919	-171	c.471 others(19): Show c.4716+2366_4717-2248del	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	31/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRPM2_chr21_44348621_44447644	44422972	TACTCCCA others(164): Show TACTCCCAGAAAAACAGCGCTGCTCCACAACCCCCACAAAATACGACAGA CACCAAACATCCTTAGAACAGCAGCACTGCTCCACGACCCCCACAAAATA AGACAGAAACCAAACATTTCCAGAATAATAGCGCCGCTCTACAACCCCAC AAAATAAGACAGAAGCCAAATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01074.hp1 others(35): Show HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18945.hp1 NA18945.hp2 NA18966.hp1 NA18966.hp2 NA18999.hp1 NA18999.hp2 NA19012.hp1 NA19012.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0006 others(10): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0016 a0002c0002 a0005c0004 a0006c0011 a0007c0013 a0008c0009 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0006t0001 a0001c0006t0002 a0001c0008t0010 a0001c0010t0001 a0001c0012t0001 a0001c0016t0002 a0002c0002t0001 a0002c0002t0004 a0005c0004t0001 a0006c0011t0001 a0007c0013t0003 a0008c0009t0008 a0009c0015t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(35): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0039 a0001c0001t0004g0021 a0001c0001t0006g0031 a0001c0001t0007g0017 a0001c0001t0009g0016 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0006t0001g0012 a0001c0006t0002g0024 a0001c0008t0010g0040 a0001c0010t0001g0028 a0001c0012t0001g0008 a0001c0016t0002g0005 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0004g0033 a0002c0002t0004g0035 a0002c0002t0004g0037 a0005c0004t0001g0032 a0006c0011t0001g0010 a0007c0013t0003g0004 a0008c0009t0008g0043 a0009c0015t0002g0002	38	44	0.8636	-171	c.346 others(17): Show c.3462-655_3462-485del	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	22/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
TUBGCP2_chr10_133273635_133313872	133292037	GTGTCCCT others(164): Show GTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGT GTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCC CGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCC CCGTGTCCCTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	284	0.0035	-171	c.121 others(17): Show c.1214+291_1214+461del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
VCX3B_chrX_8459830_8471510	8467042	AGGGAGGA others(164): Show AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGTGTGGGGA GGGAGGGAGGAAGAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0002 a0004c0004t0004g0002	1	271	0.0037	-171	c.66 others(9): Show c.660_*830del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		533		chrX	TogoVar
ZNF143_chr11_9456012_9533524	9486266	TCTTAGCT others(164): Show TCTTAGCTCCAGTCTTGTATCTACCTCTGGAATTTGCACCTCCTTAGAAT ATAATGGTCCTAGGCGCTAATTATATTATATATATATTATATATATATTA TATATAATATATTATATATATAATATATATAATATATTATATATATAATA TATATTATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	332	0.0030	-171	c.645 others(17): Show c.645+6721_645+6891del	ZNF143	ENSG00000166478.10	transcript	ENST00000396602.7	protein_coding	7/15			chr11	TogoVar
ZNF516_chr18_76352682_76500242	76394062	GGGGAAGG others(164): Show GGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18967.hp1 NA18977.hp2 others(1): Show HG04204.hp1 NA18967.hp1 NA18977.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0187 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0187 a0002c0003t0196	a0001c0001t0002g0205 a0001c0001t0004g0194 a0001c0001t0187g0089 others(1): Show a0001c0001t0002g0205 a0001c0001t0004g0194 a0001c0001t0187g0089 a0002c0003t0196g0011	4	346	0.0116	-171	c.181 others(21): Show c.1811-13930_1811-13760del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF554_chr19_2814868_2841735	2817892	CAAGGGTG others(164): Show CAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAG CAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAA GGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGA TGACTAAGGTCAGAGCAGGTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0201 a0001c0004t0003g0201	1	410	0.0024	-171	c.-21 others(11): Show c.-2179_-2009del	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1975		chr19	TogoVar
ZNF554_chr19_2814868_2841735	2818051	TCAGAGCA others(164): Show TCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACC AAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGC AGGTGACAAGGGTGACTAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02015.hp2 HG02129.hp2 others(28): Show HG01109.hp1 HG02015.hp2 HG02129.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp2 NA18941.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18988.hp2 NA18999.hp1 NA19004.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19076.hp2 NA19079.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0004 a0001c0006 a0001c0007 others(3): Show a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0002c0005 a0008c0018	a0001c0004t0003 a0001c0004t0017 a0001c0006t0006 others(10): Show a0001c0004t0003 a0001c0004t0017 a0001c0006t0006 a0001c0006t0008 a0001c0006t0016 a0001c0006t0026 a0001c0006t0050 a0001c0007t0010 a0001c0007t0022 a0001c0012t0024 a0002c0005t0004 a0002c0005t0045 a0008c0018t0049	a0001c0004t0003g0046 a0001c0004t0003g0150 a0001c0004t0003g0152 others(23): Show a0001c0004t0003g0046 a0001c0004t0003g0150 a0001c0004t0003g0152 a0001c0004t0003g0199 a0001c0004t0003g0200 a0001c0004t0017g0163 a0001c0006t0006g0010 a0001c0006t0006g0034 a0001c0006t0006g0202 a0001c0006t0006g0203 a0001c0006t0008g0205 a0001c0006t0008g0215 a0001c0006t0016g0211 a0001c0006t0026g0034 a0001c0006t0050g0197 a0001c0007t0010g0130 a0001c0007t0010g0213 a0001c0007t0022g0212 a0001c0007t0022g0214 a0001c0012t0024g0161 a0002c0005t0004g0003 a0002c0005t0004g0009 a0002c0005t0004g0149 a0002c0005t0004g0157 a0002c0005t0045g0209 a0008c0018t0049g0210	31	410	0.0756	-171	c.-20 others(11): Show c.-2020_-1850del	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1816		chr19	TogoVar
ZNF573_chr19_37733302_37784586	37751390	TATAGACA others(164): Show TATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCATATATA CTGTGTATATATACAGTATAGACAGCATATATACTGTGTATATATACAGT ATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCATATATAC TGTGTATATATACAGTATAGAC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	350	0.0029	-171	c.296 others(19): Show c.296-11367_296-11197del	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZNF573_chr19_37733302_37784586	37751489	TATAGACA others(164): Show TATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCATATATA CTGTGTATATATACAGTATAGACAGCATATATACTGTGTATATATACAGT ATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCATATATAC TGTGTATATATACAGTATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp2 HG03209.hp1 others(1): Show HG00738.hp2 HG01123.hp2 HG03209.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0011 a0003c0003t0001g0327 a0003c0003t0001g0334 a0003c0003t0001g0011 a0003c0003t0001g0327 a0003c0003t0001g0334	4	350	0.0114	-171	c.296 others(19): Show c.296-11466_296-11296del	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ABR_chr17_998519_1184981	1063468	GACGCTGT others(163): Show GACGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTG TTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTG AACTGAGGGCTATGCATGTTGCTCTAGACACTGTTGTTACGTGAACTGAG GGCTATGCATGTTCCTCTAGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0109 a0001c0002t0011g0109	1	337	0.0030	-170	c.118 others(19): Show c.1182+3439_1182+3608del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288908	TGTCTCTG others(163): Show TGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	295	0.0034	-170	c.44 others(11): Show c.4486_*4655del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3482		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289035	CCCCGAGT others(163): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	295	0.0034	-170	c.43 others(11): Show c.4359_*4528del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3355		chr1	TogoVar
ACLY_chr17_41861918_41923951	41866044	TTTTTTTT others(163): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGCTCTTCGCTTATTGCAACCTCCGCCGCCCGGG TTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCACTCCAGGCTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0246 a0001c0003t0004g0246	1	294	0.0034	-170	c.15 others(11): Show c.1596_*1765del	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding		873		chr17	TogoVar
ACSF3_chr16_89088852_89161233	89147222	CCACAGAG others(163): Show CCACAGAGTGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGTGAGGGAG GAGGGAGGGGCCACAGTGTGAGTGAGGGAGGAGGGAGGGGTCACAGAGTG AGCAAGGGGGGGAGGGGCCACAGAGTGAGCGGGGGAGGGGCCACAGAGTG AGTGAGGGAGGAGGGAGGGGT	C C	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0045 a0003c0007t0007g0045	1	368	0.0027	-170	c.161 others(19): Show c.1613+1233_1613+1402del	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAP1_chr7_892900_959680	909105	ACGCCAGC others(163): Show ACGCCAGCGGGAACCCCGGTCCTCCCGACAGCAGGCGCCAGCGGGAACCC CGGTCCTCCCGACAGCAGGCGCCAGCGGGAACCCCGGACCTCCCGACAGC AGGCGCCAGCGGGAACCCCGGTCCTCCCGACAGCAGGCGCCAGCGGGAAC CCCGGACCTCCCGACAGCAGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	-170	c.389 others(17): Show c.389-4103_389-3934del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1460043	TGTAGCAA others(163): Show TGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGCGTAACGAACCTGCCT GTGACCTGAGTTTACCTGCGTTACGAACCTGCCTGTGACCTGAGTTTACC TGTGTAACGAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGC CTGTGACCTGAATTTACCTGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0024 a0010c0009t0024	a0010c0009t0024g0016 a0010c0009t0024g0016	1	106	0.0094	-170	c.101 others(19): Show c.101-81053_101-80884del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRB1_chr8_142444649_142550007	142501728	GGTGGTGG others(163): Show GGTGGTGGTGATGGTGGTGGCGGTGATGGCAATGGTGGGGTGGTGGTAGG GATGGCTGTGTGGTTTTGATGATGGAGGTGGGGTGGTGGTGGTGATGATG GGGTGGTGGTATTGATGTTTGTGTGGTTTTGACGATGGAGGTGGGGTGGT GGTGGTGATGGTGAGGGTGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02055.hp2 HG00099.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0079 a0001c0003t0001g0080 a0001c0001t0001g0079 a0001c0003t0001g0080	2	310	0.0065	-170	c.267 others(19): Show c.2676-9174_2676-9005del	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
AGMO_chr7_15195317_15567015	15354298	ATATACGT others(163): Show ATATACGTGTATACACGCGTGTATATACGTACGCGTGTATATACACGCGT GTATATAGACGTGTGTATATAGACGTGTGTATACACGTGTGTGTATACAC GTGTGTGTACACACGTGTGTGTATACACACACGTGTGTGTATACACACGT GTGTGTATACACACGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	236	0.0042	-170	c.126 others(21): Show c.1263+11046_1263+11215del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AHRR_chr5_316714_443285	415440	CGGGCGGG others(163): Show CGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAG GGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCT AGGGGCCGAATCTGCCTGGTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02647.hp1 others(6): Show HG01891.hp1 HG02486.hp1 HG02647.hp1 HG02886.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp2 NA19240.hp1 NA19240.hp2	a0001 a0004 a0014 others(1): Show a0001 a0004 a0014 a0016	a0001c0001 a0004c0003 a0014c0014 others(1): Show a0001c0001 a0004c0003 a0014c0014 a0016c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0045 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0045 a0004c0003t0001 a0004c0003t0007 a0004c0003t0037 a0014c0014t0020 a0016c0012t0020	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 others(6): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 a0001c0001t0045g0026 a0004c0003t0001g0083 a0004c0003t0007g0266 a0004c0003t0037g0223 a0014c0014t0020g0035 a0016c0012t0020g0239	9	268	0.0336	-170	c.441 others(17): Show c.441+2030_441+2199del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415463	GTCTGCCT others(163): Show GTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGT GGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCC GAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGG GCGGGAGGCCTAGGGGCCGAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0016 a0001c0001t0059g0016	1	268	0.0037	-170	c.441 others(17): Show c.441+2041_441+2210del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415478	TGGGAGGC others(163): Show TGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGC CGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCT GCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGG GCCGAATCTGCCTGGTGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01099.hp1 others(6): Show HG00099.hp2 HG01069.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01258.hp2 HG01993.hp1 HG02273.hp2 NA19083.hp2	a0005 a0015 a0005 a0015	a0005c0005 a0015c0016 a0005c0005 a0015c0016	a0005c0005t0008 a0005c0005t0015 a0015c0016t0015 a0005c0005t0008 a0005c0005t0015 a0015c0016t0015	a0005c0005t0008g0036 a0005c0005t0008g0049 a0005c0005t0008g0056 others(6): Show a0005c0005t0008g0036 a0005c0005t0008g0049 a0005c0005t0008g0056 a0005c0005t0008g0057 a0005c0005t0008g0060 a0005c0005t0008g0061 a0005c0005t0008g0108 a0005c0005t0015g0118 a0015c0016t0015g0189	9	268	0.0336	-170	c.441 others(17): Show c.441+2064_441+2233del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANGPT2_chr8_6494632_6568245	6505343	TATATATT others(163): Show TATATATTCTTTCTATATGTATATAGAATATATATATTCTTTCTATATGT ATATAGAATATATATATTCTTTATATACATAAAGAATATATATATTCTTT ATATACATATAGAATATATATATTCTTTACATATATAGAATATATATATT CTTTATATATGTATATATAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00639.hp1 others(31): Show HG00099.hp2 HG00438.hp1 HG00639.hp1 HG01167.hp1 HG01261.hp1 HG02004.hp1 HG02145.hp2 HG02257.hp2 HG02523.hp1 HG02572.hp1 HG02647.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 NA18950.hp2 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18997.hp2 NA19043.hp1 NA19055.hp1 NA19070.hp1 NA19079.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0001c0010 a0001c0013 others(3): Show a0001c0006 a0001c0010 a0001c0013 a0001c0014 a0001c0019 a0006c0027	a0001c0006t0003 a0001c0006t0005 a0001c0006t0009 others(12): Show a0001c0006t0003 a0001c0006t0005 a0001c0006t0009 a0001c0006t0024 a0001c0006t0052 a0001c0006t0053 a0001c0006t0077 a0001c0010t0006 a0001c0010t0016 a0001c0010t0064 a0001c0013t0059 a0001c0014t0003 a0001c0014t0005 a0001c0019t0044 a0006c0027t0026	a0001c0006t0003g0053 a0001c0006t0003g0065 a0001c0006t0003g0104 others(31): Show a0001c0006t0003g0053 a0001c0006t0003g0065 a0001c0006t0003g0104 a0001c0006t0003g0127 a0001c0006t0003g0135 a0001c0006t0003g0189 a0001c0006t0003g0200 a0001c0006t0003g0220 a0001c0006t0003g0221 a0001c0006t0003g0227 a0001c0006t0005g0253 a0001c0006t0005g0265 a0001c0006t0005g0277 a0001c0006t0009g0015 a0001c0006t0009g0024 a0001c0006t0009g0029 a0001c0006t0024g0174 a0001c0006t0024g0218 a0001c0006t0052g0128 a0001c0006t0053g0156 a0001c0006t0077g0335 a0001c0010t0006g0302 a0001c0010t0006g0316 a0001c0010t0016g0050 a0001c0010t0016g0051 a0001c0010t0016g0064 a0001c0010t0064g0310 a0001c0013t0059g0291 a0001c0014t0003g0177 a0001c0014t0005g0278 a0001c0014t0005g0279 a0001c0014t0005g0288 a0001c0019t0044g0077 a0006c0027t0026g0290	34	336	0.1012	-170	c.132 others(19): Show c.1328-2252_1328-2083del	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANXA2_chr15_60342151_60402986	60366802	CGGGGGGG others(163): Show CGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0285 a0001c0001t0004g0285	1	334	0.0030	-170	c.149 others(17): Show c.149-2449_149-2280del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79357772	TCTGTGTG others(163): Show TCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTG TGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTG AGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTG GAGGTGTCCGTGTGAGGGACC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01981.hp2 HG02056.hp2 others(20): Show HG01884.hp1 HG01981.hp2 HG02056.hp2 HG02074.hp1 HG02572.hp2 HG02976.hp1 HG03041.hp1 HG03516.hp1 HG03834.hp1 HG03927.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18962.hp2 NA18971.hp1 NA18979.hp2 NA18994.hp1 NA19002.hp2 NA19056.hp2 NA19079.hp1 NA19086.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0016	a0001c0003 a0001c0004 a0001c0006 others(4): Show a0001c0003 a0001c0004 a0001c0006 a0001c0037 a0002c0002 a0006c0012 a0016c0028	a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 others(7): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0003 a0001c0006t0003 a0001c0037t0003 a0002c0002t0003 a0006c0012t0003 a0016c0028t0012	a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0121 others(20): Show a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0121 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0143 a0001c0003t0003g0150 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0003g0034 a0001c0004t0003g0073 a0001c0004t0003g0102 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0006t0003g0281 a0001c0037t0003g0104 a0002c0002t0003g0198 a0006c0012t0003g0222 a0016c0028t0012g0144	23	298	0.0772	-170	c.290 others(19): Show c.2904-1569_2904-1400del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C12orf75_chr12_105325691_105376518	105335525	GGAAACAC others(163): Show GGAAACACTTTTTTGCTGGAGAGCTGATACTATGTTTATTTCTTGTCTCC TTTCCCCTCCCCCAAATGGAGGCCTCATGAAAGCCTATACATTTTGTTTA CGGCTGTATCCTCAGCCTCTAGACTAGTTTCCACATTTTTAATGGAACTC ACTCTTGTTTTCTCTCTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	408	0.0025	-170	c.46+ others(15): Show c.46+4649_46+4818del	C12orf75	ENSG00000235162.9	transcript	ENST00000443585.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
C4A_chr6_31977057_32007681	31977283	TGCCTCAG others(163): Show TGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCACCTGACACCACGCCC AGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCA CCCAGGCTGGAGTTCAGTGGCATGATCTTGGCTTACTGCAAGCTCTGCCT CCTGGGTTCACCCATTCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	322	0.0031	-170	c.-48 others(11): Show c.-4824_-4655del	C4A	ENSG00000244731.10	transcript	ENST00000428956.7	protein_coding		4773		chr6	TogoVar

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Search Results (Total: 10000 hits)