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
SEC63_chr6_107862756_107963208	107934603	ACCCCGTC others(266): Show ACCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCCGCCAGGCCAGCCACC CCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCC CGTCCGGCAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCAGCCAGCTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG03195.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0014 a0001c0001t0019	a0001c0001t0014g0314 a0001c0001t0019g0044 a0001c0001t0019g0045 a0001c0001t0014g0314 a0001c0001t0019g0044 a0001c0001t0019g0045	3	332	0.0090	-273	c.125 others(17): Show c.125-5362_125-5090del	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SEC63_chr6_107862756_107963208	107953603	CGTCCGGG others(266): Show CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGCAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTG AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 homoSapiens_chm13v2.hp1 HG00741.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0203 a0001c0002t0026g0204 a0001c0002t0026g0203 a0001c0002t0026g0204	2	332	0.0060	-273	c.124 others(17): Show c.124+4010_124+4282del	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SNX32_chr11_65828963_65858701	65842768	AGTGAAAC others(266): Show AGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGTGTGGTGG TGGGCGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCT TGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCCGCCATTGCACTC CAGCCTGAGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAA AAAAAGAAACACTTTGGGAGGCCGAGACCGGGGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG02056.hp2 others(8): Show HG00558.hp2 HG00597.hp2 HG02056.hp2 NA18612.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA19009.hp2 NA19070.hp2 NA19086.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0033 a0001c0001t0002g0034 others(2): Show a0001c0001t0002g0009 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0139 a0001c0001t0002g0140	11	390	0.0282	-273	c.37- others(15): Show c.37-6677_37-6405del	SNX32	ENSG00000172803.18	transcript	ENST00000308342.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
SSBP2_chr5_81407804_81756097	81712345	TAAAAAAT others(266): Show TAAAAAATAAAGATTACAAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(175): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(67): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0075 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0022 a0001c0002t0031 a0001c0002t0032 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0049 a0001c0002t0051 a0001c0002t0052 a0001c0002t0056 a0001c0002t0063 a0001c0002t0064 a0001c0002t0070 a0001c0003t0033	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0024 others(175): Show a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0116 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0104 a0001c0001t0002g0124 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0035 a0001c0001t0003g0070 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0004g0007 a0001c0001t0004g0038 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0005g0045 a0001c0001t0005g0145 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0006g0030 a0001c0001t0006g0137 a0001c0001t0007g0100 a0001c0001t0007g0143 a0001c0001t0007g0198 a0001c0001t0007g0204 a0001c0001t0008g0130 a0001c0001t0008g0134 a0001c0001t0008g0135 a0001c0001t0008g0140 a0001c0001t0008g0146 a0001c0001t0009g0015 a0001c0001t0009g0019 a0001c0001t0009g0025 a0001c0001t0009g0026 a0001c0001t0009g0034 a0001c0001t0011g0027 a0001c0001t0011g0032 a0001c0001t0011g0161 a0001c0001t0012g0018 a0001c0001t0012g0022 a0001c0001t0012g0040 a0001c0001t0012g0051 a0001c0001t0014g0195 a0001c0001t0014g0196 a0001c0001t0014g0197 a0001c0001t0016g0125 a0001c0001t0017g0086 a0001c0001t0018g0074 a0001c0001t0018g0192 a0001c0001t0019g0129 a0001c0001t0019g0133 a0001c0001t0021g0092 a0001c0001t0023g0089 a0001c0001t0023g0107 a0001c0001t0024g0037 a0001c0001t0024g0117 a0001c0001t0026g0048 a0001c0001t0026g0190 a0001c0001t0027g0001 a0001c0001t0027g0147 a0001c0001t0028g0020 a0001c0001t0028g0031 a0001c0001t0029g0009 a0001c0001t0029g0153 a0001c0001t0030g0065 a0001c0001t0030g0068 a0001c0001t0033g0050 a0001c0001t0034g0141 a0001c0001t0034g0142 a0001c0001t0035g0154 a0001c0001t0035g0162 a0001c0001t0036g0033 a0001c0001t0036g0039 a0001c0001t0040g0085 a0001c0001t0041g0084 a0001c0001t0042g0151 a0001c0001t0045g0087 a0001c0001t0046g0075 a0001c0001t0053g0202 a0001c0001t0054g0012 a0001c0001t0055g0120 a0001c0001t0057g0054 a0001c0001t0058g0101 a0001c0001t0059g0200 a0001c0001t0060g0109 a0001c0001t0061g0189 a0001c0001t0062g0083 a0001c0001t0065g0105 a0001c0001t0066g0036 a0001c0001t0067g0042 a0001c0001t0068g0043 a0001c0001t0069g0199 a0001c0001t0071g0126 a0001c0001t0072g0127 a0001c0001t0075g0144 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0016 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0191 a0001c0002t0002g0122 a0001c0002t0006g0091 a0001c0002t0006g0098 a0001c0002t0006g0110 a0001c0002t0006g0115 a0001c0002t0010g0090 a0001c0002t0010g0113 a0001c0002t0010g0114 a0001c0002t0010g0136 a0001c0002t0010g0139 a0001c0002t0013g0008 a0001c0002t0013g0044 a0001c0002t0013g0194 a0001c0002t0015g0093 a0001c0002t0015g0094 a0001c0002t0015g0097 a0001c0002t0022g0073 a0001c0002t0031g0059 a0001c0002t0031g0063 a0001c0002t0032g0099 a0001c0002t0032g0138 a0001c0002t0037g0052 a0001c0002t0038g0060 a0001c0002t0039g0066 a0001c0002t0049g0011 a0001c0002t0051g0010 a0001c0002t0052g0119 a0001c0002t0056g0056 a0001c0002t0063g0108 a0001c0002t0064g0123 a0001c0002t0070g0078 a0001c0003t0033g0193	178	206	0.8641	-273	c.62+ others(17): Show c.62+38363_62+38635del	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16			chr5	TogoVar
TCERG1L_chr10_131087391_131316721	131228272	GGAGTCTC others(266): Show GGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCC TCCAGACAGGCATTTCCTCAAGGTCTCTGGAGTCTCCCCTCCAGACAGGC ATTTCCTCAAGGCCTCACGAGTCTCCCCTCCAGACAGGCATTTCCTCAAG GCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGT CTTCCCTCCAGACAGGCATTTCCTCAAGGTCTCTGGAGTCTCCACTCCAG AAAGGCATTTCCTCAAGGCCTCAC	G G	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	324	0.0031	-273	c.856 others(19): Show c.856+31714_856+31986del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
UBTD1_chr10_97493924_97576206	97528131	CCCCCCAC others(266): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACT CCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACGGGG CGGCTCGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCGGGGGGCTGACT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	314	0.0032	-273	c.70+ others(17): Show c.70+28896_70+29168del	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF419_chr19_57482750_57501098	57499378	CATCTCCA others(266): Show CATCTCCATCATCTCCATGTCCATCATCATCTCTATCTCCATCATCTCCA TCTCCATCATCTCCATCTCCATCATCATCTCTATCTCCATCATCATCTCT ATCTCCATCATCTCCATCTCCATCATCTCCATCATCTCCATCTCCATCTC CTACTCCATCATCTCCATCTCCATCTTCTCCATCATCTCCATCTTCTCCA TCATCTCCATCTTCTCCATCATCTCCATCTTCATCATCTCCATTTCCATC ATCTCCATCTCCATCATCATCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0043 a0001c0003t0008g0043	1	418	0.0024	-273	c.52 others(11): Show c.5289_*5561del	ZNF419	ENSG00000105136.22	transcript	ENST00000221735.12	protein_coding		3281		chr19	TogoVar
ZNF516_chr18_76352682_76500242	76393074	CAGGTGGT others(266): Show CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0119 a0001c0002t0119	a0001c0002t0119g0018 a0001c0002t0119g0018	1	346	0.0029	-273	c.181 others(21): Show c.1811-13044_1811-12772del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393937	AGGCAGGT others(266): Show AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19030.hp1 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0070 a0001c0004t0102 a0001c0004t0070 a0001c0004t0102	a0001c0004t0070g0125 a0001c0004t0102g0302 a0001c0004t0070g0125 a0001c0004t0102g0302	2	346	0.0058	-273	c.181 others(21): Show c.1811-13907_1811-13635del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393945	GGTCAGGT others(266): Show GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAGGGCAGGTA	G G	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0050 a0001c0001t0022g0050	1	346	0.0029	-273	c.181 others(21): Show c.1811-13915_1811-13643del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394425	CAGGTGGT others(266): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01517.hp2 HG02080.hp2 others(1): Show HG00741.hp1 HG01517.hp2 HG02080.hp2 HG06807.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0015 a0001c0001 a0001c0002 a0007c0015	a0001c0001t0001 a0001c0001t0004 a0001c0002t0053 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0053 a0007c0015t0021	a0001c0001t0001g0163 a0001c0001t0004g0167 a0001c0002t0053g0002 others(1): Show a0001c0001t0001g0163 a0001c0001t0004g0167 a0001c0002t0053g0002 a0007c0015t0021g0259	4	346	0.0116	-273	c.181 others(21): Show c.1811-14395_1811-14123del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF773_chr19_57494938_57513229	57499378	CATCTCCA others(266): Show CATCTCCATCATCTCCATGTCCATCATCATCTCTATCTCCATCATCTCCA TCTCCATCATCTCCATCTCCATCATCATCTCTATCTCCATCATCATCTCT ATCTCCATCATCTCCATCTCCATCATCTCCATCATCTCCATCTCCATCTC CTACTCCATCATCTCCATCTCCATCTTCTCCATCATCTCCATCTTCTCCA TCATCTCCATCTTCTCCATCATCTCCATCTTCATCATCTCCATTTCCATC ATCTCCATCTCCATCATCATCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0038 a0006c0008t0002g0038	1	416	0.0024	-273	c.-70 others(9): Show c.-702_-430del	ZNF773	ENSG00000152439.13	transcript	ENST00000282292.9	protein_coding		559		chr19	TogoVar
ACAP3_chr1_1287391_1312930	1297095	AGTGGCAC others(265): Show AGTGGCACGTAGGTGTGTGCACCGGCACGGGGCAGGGGCCATCCCCAGTG GCACGTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCAGTGGCAC GTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCGGTGGCACATGT GTGCACGGGCTTGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGC ACAGGCGCGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCACGG GCTTGGGGCAGGGGCCATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG04184.hp2 HG01516.hp2 HG01517.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0023 a0001c0001t0001g0100 a0001c0001t0001g0101	3	295	0.0102	-272	c.112 others(17): Show c.1128+455_1129-463del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23			chr1	TogoVar
ADARB2_chr10_1172313_1742525	1460044	GTAGCAAA others(265): Show GTAGCAAACCTGCCTGTGACCTGAGTTTACCTGCGTAACGAACCTGCCTG TGACCTGAGTTTACCTGCGTTACGAACCTGCCTGTGACCTGAGTTTACCT GTGTAACGAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCC TGTGACCTGAATTTACCTGCGTAACGAACCTGCCTGTGACCTGAGTTTAC CTGCGTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACGAACCTG CCTGTGACCTGAGTTTACCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0066 a0001c0007t0066	a0001c0007t0066g0105 a0001c0007t0066g0105	1	106	0.0094	-272	c.101 others(19): Show c.101-81156_101-80885del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1460557	ACGAACCT others(265): Show ACGAACCTGCCTGTGACCTGAGTTTACCTGCGTTACGAACCTGCCTGTGA CCTGAGTTTACCTGCGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGTG TAACGAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGT GACCTGAATTTACCTGTGTAGCAAACCTGCCTGTGACCTGAGTTTACCTG CGTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAGCAAACCTGTCT GTGACCTGAGTTTACCTGTGTAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02615.hp1 others(4): Show HG00639.hp1 HG02055.hp2 HG02615.hp1 HG02683.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0001c0007 a0002c0002 others(1): Show a0001c0003 a0001c0007 a0002c0002 a0009c0010	a0001c0003t0001 a0001c0007t0066 a0002c0002t0008 others(4): Show a0001c0003t0001 a0001c0007t0066 a0002c0002t0008 a0002c0002t0042 a0002c0002t0044 a0002c0002t0046 a0009c0010t0006	a0001c0003t0001g0052 a0001c0007t0066g0105 a0002c0002t0008g0047 others(4): Show a0001c0003t0001g0052 a0001c0007t0066g0105 a0002c0002t0008g0047 a0002c0002t0042g0061 a0002c0002t0044g0049 a0002c0002t0046g0056 a0009c0010t0006g0014	7	106	0.0660	-272	c.101 others(19): Show c.101-81669_101-81398del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ANXA2_chr15_60342151_60402986	60366832	GTCCGGGA others(265): Show GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20300.hp2 HG02976.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0261 a0001c0001t0001g0211 a0001c0001t0001g0261	2	334	0.0060	-272	c.149 others(17): Show c.149-2581_149-2310del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ATOX1_chr5_151737822_151763631	151752338	GCAGCATC others(265): Show GCAGCATCTGGGTCCAGGGAAAGAAAGGATTGCCTGGGTTCCCCAGTGGG TTGGAGGCCAGGCAGGAAGGGATCCCCGGCTCCTAGTCTTCATGTAAGCT CTACATTCTACAGTCTCTAGGATATCTAACAGATCAAGGGTCTGAAGGTA AGCTCCCAGAAGACAGAGGTTTTGTTCAGTTCACTACTGGATTCCTAATA CTTGGAACAGTGCCTGGACAGAGTAGGTGCTTAAAACTTATTTTTGAGTC AATGGATAATTGACATGGCTGGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG03041.hp1 HG02109.hp2 HG02280.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0075 a0001c0001t0001g0030 a0001c0001t0001g0075	3	378	0.0079	-272	c.7-8 others(11): Show c.7-831_7-560del	ATOX1	ENSG00000177556.12	transcript	ENST00000313115.11	protein_coding	1/3			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112864882	CAGGCCTG others(265): Show CAGGCCTGCGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATT CAGTGCGGCCCATGCAGCTTCTCAGCAGGGTCCATCACCACCTGCACAGT AATTCAGTGCAGCCCGCGCAGCTTCCCAGTGGGGACCATCACCACGTGCG CAATAATTCAGCGTAGCACGTGCAGCTTCCCAGCGGGATCCATCACCACA TGGGCAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCAC CACCTGCGCAGTAATTCAGTGCA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	254	0.0039	-272	c.299 others(19): Show c.2991+2308_2991+2579del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
BRD9_chr5_858741_897801	897529	GCCCAGGG others(265): Show GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	364	0.0028	-272	c.-51 others(11): Show c.-5144_-4873del	BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding		4729		chr5	TogoVar
C2orf16_chr2_27532386_27587722	27557645	CCCCCGCC others(265): Show CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTTCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGACTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	326	0.0031	-272	c.145 others(17): Show c.145-7687_145-7416del	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK12_chr17_39456486_39539544	39498936	TTTCTTTC others(265): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02717.hp2 HG03130.hp2 others(2): Show HG01257.hp2 HG02717.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0030 a0001c0001t0057	a0001c0001t0001g0035 a0001c0001t0003g0002 a0001c0001t0007g0074 others(2): Show a0001c0001t0001g0035 a0001c0001t0003g0002 a0001c0001t0007g0074 a0001c0001t0030g0073 a0001c0001t0057g0176	5	260	0.0192	-272	c.242 others(19): Show c.2420-2311_2420-2040del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CEP72_chr5_607340_658553	630750	ACCAGTCC others(265): Show ACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGG TGGGGTTCTATCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGT CCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGG ATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAG TCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGG TTCTGTCCAGTGCTGGATTTGAC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0023 a0003c0003t0002g0023	1	91	0.0110	-272	c.513 others(17): Show c.513-2993_513-2722del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
COL4A2_chr13_110302284_110518209	110313545	CGTCCACC others(265): Show CGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGC TCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCC CGCGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAG GCTCCCACCCCGGTGCCCCGCGTCCACCCAGCAGGCTCCCACCCCAGTGC CCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCGGC AGGCTCCCACCCCAGTGCCCCGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG02970.hp2 others(7): Show HG02630.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0009 a0021	a0001c0022 a0001c0077 a0001c0114 others(7): Show a0001c0022 a0001c0077 a0001c0114 a0002c0091 a0002c0120 a0003c0039 a0003c0071 a0007c0031 a0009c0057 a0021c0053	a0001c0022t0019 a0001c0077t0005 a0001c0114t0010 others(7): Show a0001c0022t0019 a0001c0077t0005 a0001c0114t0010 a0002c0091t0001 a0002c0120t0007 a0003c0039t0004 a0003c0071t0001 a0007c0031t0009 a0009c0057t0001 a0021c0053t0007	a0001c0022t0019g0130 a0001c0077t0005g0236 a0001c0114t0010g0030 others(7): Show a0001c0022t0019g0130 a0001c0077t0005g0236 a0001c0114t0010g0030 a0002c0091t0001g0210 a0002c0120t0007g0029 a0003c0039t0004g0251 a0003c0071t0001g0209 a0007c0031t0009g0042 a0009c0057t0001g0234 a0021c0053t0007g0241	10	372	0.0269	-272	c.99+ others(15): Show c.99+5447_99+5718del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110313570	AGTGCCCC others(265): Show AGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCAC CCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCGGCAGGCTCCCACC CCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCC ACCCAGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCA CCCCGGTGCCCCGCGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGT CCACCCGGCAGGCTCCCACCCCG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0134 a0003c0010t0006g0134	1	372	0.0027	-272	c.99+ others(15): Show c.99+5456_99+5727del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110313579	TGTCCACC others(265): Show TGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGC TCCCACCCCGGTGCCCCGCGTCCACCCGGCAGGCTCCCACCCCAGTGCCC CGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCAGCAG GCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGC CCCGCGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGC AGGCTCCCACCCCGGTGCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(87): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01516.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02615.hp1 HG02698.hp1 HG02738.hp1 HG03195.hp1 HG03490.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04228.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp1 NA18975.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0014 a0015 a0019 a0023 a0024 a0026	a0001c0001 a0001c0002 a0001c0003 others(38): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0024 a0001c0025 a0001c0029 a0001c0047 a0001c0052 a0001c0075 a0001c0106 a0002c0006 a0002c0013 a0002c0017 a0002c0038 a0003c0007 a0003c0010 a0003c0018 a0003c0095 a0003c0112 a0004c0009 a0004c0012 a0004c0030 a0005c0020 a0005c0021 a0006c0027 a0006c0033 a0008c0023 a0010c0036 a0014c0108 a0015c0109 a0019c0072 a0023c0099 a0024c0076 a0026c0104	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(64): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0008t0011 a0001c0011t0004 a0001c0011t0013 a0001c0014t0001 a0001c0014t0004 a0001c0015t0003 a0001c0016t0003 a0001c0016t0007 a0001c0024t0002 a0001c0024t0003 a0001c0025t0001 a0001c0029t0001 a0001c0047t0002 a0001c0052t0003 a0001c0075t0001 a0001c0106t0001 a0002c0006t0005 a0002c0006t0006 a0002c0013t0006 a0002c0017t0002 a0002c0038t0002 a0003c0007t0006 a0003c0007t0008 a0003c0007t0030 a0003c0010t0004 a0003c0010t0005 a0003c0018t0004 a0003c0018t0005 a0003c0095t0003 a0003c0112t0006 a0004c0009t0002 a0004c0009t0003 a0004c0012t0001 a0004c0012t0002 a0004c0012t0004 a0004c0030t0001 a0005c0020t0006 a0005c0021t0041 a0006c0027t0007 a0006c0027t0012 a0006c0033t0012 a0008c0023t0009 a0010c0036t0021 a0014c0108t0002 a0015c0109t0002 a0019c0072t0048 a0023c0099t0006 a0024c0076t0003 a0026c0104t0006	a0001c0001t0001g0001 a0001c0001t0001g0363 a0001c0001t0003g0063 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0363 a0001c0001t0003g0063 a0001c0001t0004g0348 a0001c0001t0004g0350 a0001c0001t0005g0115 a0001c0001t0005g0192 a0001c0001t0006g0083 a0001c0002t0001g0180 a0001c0002t0001g0193 a0001c0002t0003g0136 a0001c0002t0004g0292 a0001c0002t0005g0158 a0001c0003t0002g0267 a0001c0003t0002g0293 a0001c0003t0002g0333 a0001c0003t0002g0353 a0001c0003t0003g0056 a0001c0003t0003g0061 a0001c0003t0017g0178 a0001c0003t0017g0245 a0001c0004t0002g0288 a0001c0004t0004g0291 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0357 a0001c0004t0005g0104 a0001c0005t0001g0257 a0001c0005t0002g0297 a0001c0005t0002g0322 a0001c0005t0002g0337 a0001c0005t0002g0342 a0001c0008t0001g0222 a0001c0008t0011g0011 a0001c0011t0004g0311 a0001c0011t0013g0255 a0001c0014t0001g0146 a0001c0014t0001g0194 a0001c0014t0004g0324 a0001c0015t0003g0086 a0001c0015t0003g0093 a0001c0016t0003g0094 a0001c0016t0007g0219 a0001c0024t0002g0345 a0001c0024t0003g0060 a0001c0024t0003g0087 a0001c0025t0001g0201 a0001c0029t0001g0161 a0001c0047t0002g0310 a0001c0052t0003g0141 a0001c0075t0001g0106 a0001c0106t0001g0217 a0002c0006t0005g0157 a0002c0006t0006g0090 a0002c0013t0006g0118 a0002c0017t0002g0334 a0002c0038t0002g0360 a0003c0007t0006g0119 a0003c0007t0008g0186 a0003c0007t0030g0352 a0003c0010t0004g0268 a0003c0010t0005g0218 a0003c0018t0004g0309 a0003c0018t0005g0116 a0003c0018t0005g0117 a0003c0095t0003g0082 a0003c0112t0006g0068 a0004c0009t0002g0325 a0004c0009t0003g0078 a0004c0012t0001g0199 a0004c0012t0002g0277 a0004c0012t0004g0307 a0004c0030t0001g0179 a0005c0020t0006g0073 a0005c0021t0041g0072 a0006c0027t0007g0177 a0006c0027t0012g0281 a0006c0033t0012g0335 a0006c0033t0012g0336 a0008c0023t0009g0015 a0010c0036t0021g0319 a0010c0036t0021g0320 a0014c0108t0002g0323 a0015c0109t0002g0321 a0019c0072t0048g0223 a0023c0099t0006g0058 a0024c0076t0003g0076 a0026c0104t0006g0085	90	372	0.2419	-272	c.99+ others(15): Show c.99+5475_99+5746del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587823	GCGTGTCA others(265): Show GCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGC CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACG GCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGT GTTACCCACAGATACACGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0321 a0001c0002t0002g0321	1	348	0.0029	-272	c.927 others(15): Show c.927+753_928-549del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYP19A1_chr15_51203057_51343596	51293986	GGGAAGTG others(265): Show GGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGG AGCCCCTCTGCCTGGCTGCCCCGTCTGGAAAGTGAGGAGCGTCTCTGCCC GGCCGCCATCCTGTCTAGGAAGTGAGGAGCGTCTCTGCCCGGCTGCCCAT CGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTG AGGAGCGTCTCTGCCCGGCTGCCATCCCATCTAGGAAGTGACGAGCGCCT CTTCCCGGCCACCATCCCATCTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00621.hp1 others(66): Show HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00735.hp2 HG01109.hp2 HG01255.hp2 HG01258.hp2 HG01496.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04204.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19003.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0012 others(4): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0006 a0003c0004 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001 a0001c0002t0010 a0001c0012t0003 a0002c0003t0002 a0002c0006t0008 a0003c0004t0001 a0005c0009t0001	a0001c0001t0001g0101 a0001c0001t0001g0127 a0001c0001t0002g0012 others(66): Show a0001c0001t0001g0101 a0001c0001t0001g0127 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0156 a0001c0001t0002g0164 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0165 a0001c0001t0003g0203 a0001c0001t0003g0253 a0001c0001t0004g0029 a0001c0001t0016g0008 a0001c0001t0017g0157 a0001c0002t0001g0175 a0001c0002t0001g0197 a0001c0002t0010g0004 a0001c0002t0010g0005 a0001c0002t0010g0006 a0001c0012t0003g0244 a0002c0003t0002g0027 a0002c0003t0002g0124 a0002c0003t0002g0128 a0002c0003t0002g0150 a0002c0003t0002g0159 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0003t0002g0163 a0002c0003t0002g0169 a0002c0003t0002g0171 a0002c0003t0002g0174 a0002c0003t0002g0176 a0002c0003t0002g0177 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0189 a0002c0003t0002g0202 a0002c0003t0002g0204 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0245 a0002c0003t0002g0246 a0002c0003t0002g0247 a0002c0003t0002g0251 a0002c0003t0002g0252 a0002c0003t0002g0255 a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0259 a0002c0003t0002g0260 a0002c0003t0002g0261 a0002c0006t0008g0183 a0002c0006t0008g0184 a0002c0006t0008g0185 a0002c0006t0008g0188 a0002c0006t0008g0192 a0003c0004t0001g0269 a0005c0009t0001g0129	69	306	0.2255	-272	c.-39 others(19): Show c.-39+44237_-39+44508del	CYP19A1	ENSG00000137869.16	transcript	ENST00000396402.6	protein_coding	1/9			chr15	TogoVar
DLGAP2_chr8_732628_1713476	895756	CGGTGTGG others(265): Show CGGTGTGGGGCAGTGGTGAGAGGTGTCAATCCCCAGGGTTTGTTGGATGG GGATGATAGTGGCTAGGTAGGTGTGGGGCAGTGGTGAGAGGTGTCAATCC CCAGGGTTTGTTGGATGGGGATGATAGTGGCTAGGTAGGTGTGGGGCAGT GGTGAGAGGTGTCAATCCCCAGGGTTTGTTGGATGGGGATGATAGTGGCT AGGTAGGTGTGGGGCAGTGGTGAGAGGTGTCAATCCCCAGGGTTTGTTGG ATGGGGATGATAGTGGCTAGGTA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-272	c.19- others(17): Show c.19-11921_19-11650del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF3H_chr8_116637130_116760823	116679763	GGGGGTCA others(265): Show GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGTCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCCCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0181	1	336	0.0030	-272	c.290 others(19): Show c.290-21055_290-20784del	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
FZR1_chr19_3501311_3543334	3530114	GGATGGGT others(265): Show GGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGG ATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCAGATGG GAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGA GAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGA GCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGAGAGCGG ATGGGAGAGCGGATGGGTGAGCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0066 a0001c0001t0007g0066	1	314	0.0032	-272	c.655 others(15): Show c.655-647_655-376del	FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241805198	TGCAGGCC others(265): Show TGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	314	0.0032	-272	c.10 others(11): Show c.1033_*1304del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		912		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807232	GCCCAGGA others(265): Show GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCC CCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02717.hp1 HG02970.hp1 others(1): Show HG02040.hp2 HG02717.hp1 HG02970.hp1 NA19066.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0002c0002t0002 a0006c0006t0001 a0002c0002t0001 a0002c0002t0002 a0006c0006t0001	a0002c0002t0001g0018 a0002c0002t0002g0023 a0002c0002t0002g0154 others(1): Show a0002c0002t0001g0018 a0002c0002t0002g0023 a0002c0002t0002g0154 a0006c0006t0001g0003	4	314	0.0127	-272	c.30 others(11): Show c.3067_*3338del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2946		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132304467	GCCCGGGC others(265): Show GCCCGGGCACACGCTCACCCAGACACACCCTTGCCCGGGCACACCCTCGC CCGGACACACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCACCG GGGCACACCCTCGCCCGGACACGCCCTCACCCGGGCACAGCCTCACCCGG GCACAGCCTCACCGGGGCACACCCTCGCCCGGACACACCCTCACCCGGGC ACAGCCTCGCCCGGGCACACCCTCGCCCAGACACACCCTCACCTGGGCAC AGCCTCACCGGGGCACACCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	183	0.0055	-272	c.239 others(19): Show c.239-18309_239-18038del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132305069	ACCCTCAC others(265): Show ACCCTCACCTGGGCACACCCTCACCCGGGCACAGCCTCACCCAGACACGC CCTCACCCGGGCACAGCCTCGCCCGGGCACACCCTCGCCTGGGCACAGCC TCGCCCGGGCACACGCTCACCCAGACACACCCTTGCCCGGGCACACCCTC GCCCGGACACACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCAC CGGGGCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCACCC AGACACGCCCTCACCCAGACACG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	183	0.0055	-272	c.239 others(19): Show c.239-18911_239-18640del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GMEB2_chr20_63582605_63632101	63607266	ACCCCACA others(265): Show ACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCCACACCTCCATTT CTAGAAACATGCCCCTCTGACCTCACCTCCATTTCTAGAAACATGTCCCT CTGACCCACCTCCATTTCTAGAAACATGCCCCTGTGACCCCACATCCATT TCTAGAAACATGCCCCTGACCCCACCTCCATTTCTAGAAACATGCCCCTG TGACCTCACCTCCATTTCTAGAAACATGCCCCTCTGACCCACACATCCAT TTCTAGAAACATGCCCCTCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0083 a0001c0004t0004g0083	1	330	0.0030	-272	c.132 others(17): Show c.132-2698_132-2427del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GPR180_chr13_94596857_94639661	94624784	TGCCCGCC others(265): Show TGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC ACCCAGCCTTTCTTTTTTAAGATGGAGTTTCGCTCTTGTCCAGGCTGTAG TGCAGTGGTGCGATTTCGGCTCACTGCAACTTCCATCTCCTGGGGTCAAG CGATTCTCCTGTTTCAGTCTCTGGCATGTGCTACCACACCTGGCTAATTT CTGCATTTTCAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGTTCTG GAACTCCCGACCTCAGGTGATCC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0093 a0001c0001t0031g0093	1	344	0.0029	-272	c.108 others(18): Show c.1087-1173_1087-902del	GPR180	ENSG00000152749.8	transcript	ENST00000376958.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
KLK6_chr19_50953631_50974591	50961013	CTCGGCCT others(265): Show CTCGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACTGTGCCCATC CTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGATCAGGC TGGTCTCGAACTCCTGACCCCAGGTGATCCTCCTGCTTCGGCCTCCCAAG GTGCTGGGATTACAGGCATGAGCCACTGTGCCCATCCTAATTTTTGTATT TTTAGTAGAGATAGGGTTTCACCATGTTGATCAGGCTGGTCTCGAACTCC TGACCCCAGGTGATCCTCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02922.hp2 others(2): Show HG02109.hp1 HG02486.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 a0001c0001t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0001t0001g0069 a0002c0003t0001g0240 a0004c0005t0001g0096	5	316	0.0158	-272	c.582 others(15): Show c.582+459_582+730del	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LHPP_chr10_124456823_124619141	124507405	GAGGGTAG others(265): Show GAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGG GGGATAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGG GGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGTATTTCAGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	260	0.0039	-272	c.624 others(17): Show c.624+9278_625-9503del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRRFIP1_chr2_237622587_237786643	237681668	CAGTCCTA others(265): Show CAGTCCTATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG02523.hp2 others(5): Show HG00544.hp2 HG00673.hp2 HG02523.hp2 HG03490.hp2 HG03831.hp2 NA18747.hp1 NA18977.hp2 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0005 a0002c0003t0006 a0002c0003t0019	a0001c0001t0001g0273 a0001c0001t0007g0201 a0001c0002t0005g0026 others(5): Show a0001c0001t0001g0273 a0001c0001t0007g0201 a0001c0002t0005g0026 a0002c0003t0006g0144 a0002c0003t0006g0183 a0002c0003t0006g0184 a0002c0003t0019g0016 a0002c0003t0019g0028	8	276	0.0290	-272	c.97- others(17): Show c.97-26863_97-26592del	LRRFIP1	ENSG00000124831.20	transcript	ENST00000308482.14	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEP1A_chr6_46788389_46844778	46824770	TATGTATT others(265): Show TATGTATTTAAATAGATGTATTTAAATATATATAAATGATGTATTTAATT AGATGTATTTAAATATATATAAATTATATATATAAATTATATATTTAAAT AGATCTATTTAAATATATATAAATTATATATATAAATTATATATTTAAAT AGATCTATTTAAATATATATAAATTATATATTTAAATAGATCTATTTAAA TATATATAAATTATATATTTAAATAGATCTATTTAAGTATATATAAATTA TATATTTAAATAGATCTATTTAA	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	352	0.0028	-272	c.557 others(15): Show c.557-499_557-228del	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MET_chr7_116667196_116803377	116686122	AATCCCCC others(265): Show AATCCCCCCTTGTTCAACACCCTGCAATGACTCCCCATTTCACTCCAATA AAAACCTGAATCTCCCAGGGGCCTACAAGGCCTTACATGCTCTGCTTCTT TGTCCTTTTGATCTCAGCTCCCGGTCAACAAAGTCCAGGCTTACTGGCCC CCTTGCTGTGCTTCAGACACACCAGGCACATTTAGTTCTTCCTTCTTGCC TCTGCCCAGAAATCTCTTTTCCCATCTCAGACATCTGGGTCCACAAAAGC CACCTTCCCAATTTCCGAGCTAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0017 a0001c0018t0017	a0001c0018t0017g0029 a0001c0018t0017g0029	1	340	0.0029	-272	c.-14 others(19): Show c.-14-12947_-14-12676del	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237544875	GGGACAGT others(265): Show GGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTG GGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGT GGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGGTA GGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGTGT TGAGTGGGGGAATAGTTATGAGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA20905.hp2 HG00099.hp2 NA20905.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0016 a0001c0001 a0010c0016	a0001c0001t0004 a0010c0016t0002 a0001c0001t0004 a0010c0016t0002	a0001c0001t0004g0149 a0010c0016t0002g0047 a0001c0001t0004g0149 a0010c0016t0002g0047	2	286	0.0070	-272	c.154 others(19): Show c.1540-1728_1540-1457del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2085903	CTTTGTGG others(265): Show CTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGAT CTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCG TGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCC CACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGC CCCCCACTGTTGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19063.hp2 NA18957.hp1 NA19063.hp2	a0002 a0005 a0002 a0005	a0002c0048 a0005c0146 a0002c0048 a0005c0146	a0002c0048t0003 a0005c0146t0004 a0002c0048t0003 a0005c0146t0004	a0002c0048t0003g0128 a0005c0146t0004g0105 a0002c0048t0003g0128 a0005c0146t0004g0105	2	403	0.0050	-272	c.164 others(17): Show c.1644+515_1644+786del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NBPF3_chr1_21435137_21489900	21459925	TGCCAACC others(265): Show TGCCAACCAGGACACCAACCTTAGCTGGCGTGATGTTCACGAAGGTTTTT CCCTGGGACGGCGGCCCAGATGGAGGGTGAGTCCTTGTTGCCCACGATGG CCGCGAACCTAACAGGTCCCATCCGCCACGAGGCTGTAGATAGAGGCGTC CACCTGGCCGTTGCGCGGCTGCGGGGGCTCCTCTGGTCGCTGCTGCTGGG GCCGCCTGGGCTGGCGGGCAGGGGAGGCGGAGAGCTGCGTGCAGGCACTG CCGTCCTCACCACGGCTCTGCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(258): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(12): Show a0001 a0003 a0004 a0005 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0021 a0022 a0024 a0026	a0001c0001 a0001c0027 a0003c0003 others(14): Show a0001c0001 a0001c0027 a0003c0003 a0003c0022 a0004c0004 a0005c0005 a0012c0012 a0013c0011 a0014c0019 a0015c0028 a0016c0031 a0017c0030 a0018c0029 a0021c0018 a0022c0017 a0024c0016 a0026c0025	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(24): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0027t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0017 a0003c0003t0023 a0003c0022t0003 a0004c0004t0005 a0005c0005t0004 a0012c0012t0009 a0013c0011t0009 a0014c0019t0025 a0015c0028t0007 a0016c0031t0001 a0017c0030t0020 a0018c0029t0001 a0021c0018t0005 a0022c0017t0004 a0024c0016t0004 a0026c0025t0003	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(205): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0007g0041 a0001c0001t0007g0055 a0001c0001t0007g0222 a0001c0001t0007g0223 a0001c0001t0007g0224 a0001c0001t0007g0226 a0001c0001t0007g0227 a0001c0001t0007g0236 a0001c0001t0007g0237 a0001c0001t0007g0287 a0001c0001t0014g0200 a0001c0001t0014g0231 a0001c0001t0014g0243 a0001c0001t0015g0046 a0001c0001t0015g0285 a0001c0001t0016g0068 a0001c0001t0018g0247 a0001c0001t0019g0241 a0001c0001t0021g0021 a0001c0027t0001g0020 a0003c0003t0001g0205 a0003c0003t0003g0009 a0003c0003t0003g0014 a0003c0003t0003g0017 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0034 a0003c0003t0003g0051 a0003c0003t0003g0069 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0089 a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0132 a0003c0003t0003g0133 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0136 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0141 a0003c0003t0003g0142 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0146 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0153 a0003c0003t0003g0154 a0003c0003t0003g0155 a0003c0003t0003g0156 a0003c0003t0003g0157 a0003c0003t0003g0171 a0003c0003t0003g0187 a0003c0003t0017g0033 a0003c0003t0023g0131 a0003c0022t0003g0158 a0004c0004t0005g0013 a0004c0004t0005g0022 a0004c0004t0005g0060 a0004c0004t0005g0061 a0004c0004t0005g0062 a0004c0004t0005g0063 a0004c0004t0005g0064 a0004c0004t0005g0175 a0004c0004t0005g0176 a0004c0004t0005g0177 a0004c0004t0005g0178 a0004c0004t0005g0179 a0004c0004t0005g0180 a0004c0004t0005g0181 a0004c0004t0005g0182 a0005c0005t0004g0004 a0005c0005t0004g0047 a0005c0005t0004g0048 a0005c0005t0004g0049 a0005c0005t0004g0288 a0005c0005t0004g0290 a0005c0005t0004g0291 a0005c0005t0004g0292 a0005c0005t0004g0293 a0005c0005t0004g0295 a0012c0012t0009g0024 a0012c0012t0009g0025 a0013c0011t0009g0023 a0013c0011t0009g0065 a0013c0011t0009g0066 a0014c0019t0025g0067 a0015c0028t0007g0225 a0016c0031t0001g0268 a0017c0030t0020g0276 a0018c0029t0001g0281 a0021c0018t0005g0183 a0022c0017t0004g0289 a0024c0016t0004g0294 a0026c0025t0003g0137	261	394	0.6624	-272	c.134 others(17): Show c.134-8760_134-8489del	NBPF3	ENSG00000142794.19	transcript	ENST00000318249.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEU4_chr2_241804193_241822413	241807232	GCCCAGGA others(265): Show GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCC CCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02717.hp1 HG02300.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0132 a0001c0004t0001g0054 a0001c0001t0001g0132 a0001c0004t0001g0054	2	319	0.0063	-272	c.-20 others(11): Show c.-2045_-1774del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1960		chr2	TogoVar
NLGN4X_chrX_5885042_6233867	5995029	TATTTTTT others(265): Show TATTTTTTATTTTGCTTTGGTTGCTACAATCTTTGTAACAGCTCCTCTAA TGAATGAGTCAATACTTTTAATAATCCCTCTCAATGTAGCTATAGTTTTG CAAGAATTTCTCCACCTCTCACTTGGTTAACTGAAGCAAATGCTCTGGTT AAGTATGCAAATCCTATTTAAGAGAAAGGAGTTTCCCATGAAGGCACTGT CCTCTTCTTCCCTTGGGGAGCTTTATACACAAAATTGCCTCTGTGTGCGA AGAGCACAGGAACAGACAGACAG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	128	0.0078	-272	c.625 others(19): Show c.625+33979_625+34250del	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NUP98_chr11_3670019_3802554	3718818	GGACCCAA others(265): Show GGACCCAATAAAATCAGGGAGGCTGGGCAGCGTGGCTCACACCTGTAATC CCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAAATCAGGAGCTC AAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAA AAATTAGCCAGGCATGGTGGCGGGCGCCTACAATCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATCGCTTGAACCCGGGAGTCGGAGGTTGCAGTGAAC TGACATCATTCCACTGCGCTCCA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19081.hp2 NA18990.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0180 a0001c0001t0001g0182	2	342	0.0059	-272	c.239 others(17): Show c.2399+322_2399+593del	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	18/32			chr11	TogoVar
OPALIN_chr10_96338221_96364002	96354652	GGTTACAC others(265): Show GGTTACACCAGTTTTCTGCTGATGAGAGTTTAGGTGTTTTATTGTTGTTG TTGTTTTCCTATTTTCCTTTTCAAAATGTGTATTTATAAGTTTTATAATG GAAATAAATTCTCTCAGCATCTCTCAACTATTCCTCAGTGCGTTTTGAAA GTTTATGTAAATGGCCGGGCACGGTGGCTCACACCTATAATCCCAGCACT TTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAG CCTGGCCAACATGGCAAAACCCT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0113 a0001c0001t0019g0113	1	402	0.0025	-272	c.39+ others(13): Show c.39+331_39+602del	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding	2/5			chr10	TogoVar
OR2T6_chr1_248370746_248396811	248383046	ATCATGGA others(265): Show ATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTAAT GTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTG TGCTCATCCTATCCTGGTGTGTTTCCTAGTGTTATCATCATGGAGAAAGC ACTGCACTAGCCTGAGTGTGTTCATCCTATCCTGAAGTGTATCCTAGTGT TATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCC TGATGTGTTTCCTAATGTTATTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02559.hp1 others(3): Show HG02055.hp2 HG02451.hp1 HG02559.hp1 HG02886.hp1 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0044 a0001c0001t0006g0007 a0001c0001t0006g0044	6	403	0.0149	-272	c.-15 others(19): Show c.-158-1658_-158-1387del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248383367	TGTGTTTC others(265): Show TGTGTTTCCTAGTGTTATCGTCATGGAGAAAGCACTGCACTAGCCTGAGT GTGCTCATCCTATCCTGAAGTGTTTCCTAGTGTTATCATCATGGAGAAAG CACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTG TTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTC CTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAGCCT GAGTGTGCTCATCCTATCCTGAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0061 a0002c0002t0032g0061	1	403	0.0025	-272	c.-15 others(19): Show c.-158-1333_-158-1062del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar

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