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
ZNF425_chr7_149097784_149131324	149121084	TTTTTTTT others(303): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18994.hp2 HG01361.hp1 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0001g0176 a0001c0002t0001g0181	2	320	0.0063	-310	c.19- others(15): Show c.19-3046_19-2737del	ZNF425	ENSG00000204947.9	transcript	ENST00000378061.7	protein_coding	1/3			chr7	TogoVar
ACOT6_chr14_73607517_73624888	73618322	CAGAATTC others(302): Show CAGAATTCTCTGCCAAACAGCTCTGATCCTGCTTCCAGGCCCTAAGCCTC TTTTCTGGGTTCGTCGGTGTATATATACCTAGGCCTTAAACATGCAAGCT GGGGTGTCCACACATATGTGTGAGAGGCCCCTTAAGGTCCACGAAGGAGC CAGTGATGGAAGAGAAGGAGTGTGGTGCAGGGCCCACGGGCTGACCTCTC CCCTATGTCACTTTCCAGTACAGAACTCCAGTGGATTCCAAGATTTTAAA TTTGAGCCTGAACTTATGAATTGTTATGGTGGTATATTTATCAAGGCAGG AGAAAATAAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02559.hp1 others(4): Show HG02109.hp2 HG02258.hp2 HG02559.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp2 HG02897.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0050 a0003c0003t0001g0063 a0003c0003t0001g0013 a0003c0003t0001g0050 a0003c0003t0001g0063	7	394	0.0178	-309	c.661 others(15): Show c.661-910_661-602del	ACOT6	ENSG00000205669.4	transcript	ENST00000645972.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADARB2_chr10_1172313_1742525	1235892	CCAGTGCT others(302): Show CCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAG CCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGA AGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAA ACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTC CCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGC TGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGC TGAACGAACA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0096 a0002c0002t0004g0096	1	106	0.0094	-309	c.136 others(19): Show c.1362-2356_1362-2048del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ALDH1A3_chr15_100874831_100921626	100912862	TAAAATAC others(302): Show TAAAATACAGATGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGCAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(268): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18985.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0003t0002 a0001c0003t0003 a0001c0005t0003 a0001c0006t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0016 a0002c0002t0019 a0002c0002t0020 a0002c0002t0022 a0002c0002t0039	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 others(178): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0147 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0220 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0025 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0047 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0061 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0152 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0245 a0001c0001t0008g0019 a0001c0001t0008g0031 a0001c0001t0008g0083 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0009g0040 a0001c0001t0009g0130 a0001c0001t0009g0217 a0001c0001t0011g0050 a0001c0001t0011g0204 a0001c0001t0012g0030 a0001c0001t0016g0156 a0001c0001t0018g0057 a0001c0001t0018g0209 a0001c0001t0024g0009 a0001c0001t0025g0256 a0001c0001t0033g0035 a0001c0001t0034g0080 a0001c0001t0035g0035 a0001c0001t0037g0151 a0001c0001t0038g0059 a0001c0003t0002g0049 a0001c0003t0003g0049 a0001c0005t0003g0193 a0001c0006t0003g0201 a0002c0002t0004g0006 a0002c0002t0004g0051 a0002c0002t0004g0104 a0002c0002t0004g0139 a0002c0002t0004g0159 a0002c0002t0004g0171 a0002c0002t0004g0210 a0002c0002t0004g0211 a0002c0002t0004g0212 a0002c0002t0004g0213 a0002c0002t0004g0216 a0002c0002t0004g0218 a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0004g0223 a0002c0002t0004g0224 a0002c0002t0004g0225 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0004g0235 a0002c0002t0004g0237 a0002c0002t0004g0238 a0002c0002t0004g0239 a0002c0002t0005g0004 a0002c0002t0005g0046 a0002c0002t0005g0094 a0002c0002t0005g0105 a0002c0002t0005g0150 a0002c0002t0005g0155 a0002c0002t0005g0198 a0002c0002t0005g0240 a0002c0002t0005g0244 a0002c0002t0005g0249 a0002c0002t0007g0062 a0002c0002t0007g0067 a0002c0002t0007g0068 a0002c0002t0007g0069 a0002c0002t0007g0070 a0002c0002t0007g0071 a0002c0002t0007g0072 a0002c0002t0016g0242 a0002c0002t0019g0029 a0002c0002t0020g0250 a0002c0002t0022g0236 a0002c0002t0039g0207	271	414	0.6546	-309	c.146 others(19): Show c.1467-1824_1467-1516del	ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
AMFR_chr16_56356452_56430545	56397844	TAATATAT others(302): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATA ATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATAT AAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAACTCT ATCATTTATA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	356	0.0028	-309	c.108 others(19): Show c.1085+3580_1085+3888del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
ANKRD33B_chr5_10559070_10662816	10638976	GCGGGTGA others(302): Show GCGGGTGACGCGGAGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGC GCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTG ACGCGGAGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGA TGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGC GTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGC GGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGC GGCGATGTTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00738.hp1 others(37): Show HG00438.hp1 HG00544.hp2 HG00738.hp1 HG01074.hp2 HG01243.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG04228.hp1 NA18906.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18985.hp2 NA19012.hp2 NA19043.hp1 NA19058.hp1 NA19064.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0001c0007 others(6): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0013 a0001c0014 a0001c0024 a0001c0025 a0010c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0047 a0001c0001t0059 a0001c0001t0067 a0001c0004t0002 a0001c0007t0001 a0001c0011t0012 a0001c0013t0011 a0001c0014t0008 a0001c0024t0011 a0001c0025t0020 a0010c0036t0001	a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0125 others(37): Show a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0004g0087 a0001c0001t0004g0091 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0009g0035 a0001c0001t0012g0016 a0001c0001t0012g0208 a0001c0001t0027g0134 a0001c0001t0029g0237 a0001c0001t0029g0283 a0001c0001t0032g0083 a0001c0001t0047g0288 a0001c0001t0059g0021 a0001c0001t0067g0101 a0001c0004t0002g0212 a0001c0007t0001g0195 a0001c0011t0012g0004 a0001c0013t0011g0030 a0001c0013t0011g0293 a0001c0014t0008g0126 a0001c0024t0011g0028 a0001c0025t0020g0002 a0010c0036t0001g0047	40	324	0.1235	-309	c.637 others(16): Show c.637+809_637+1117del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3			chr5	TogoVar
AP1M2_chr19_10567671_10592312	10571745	AATGAGGT others(302): Show AATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGT CTCTACTAAAAATAACAATAATTAGTGGGGCATGGTGGCGCACGCCTGTA ATCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GTGGAGGTTGCAGTGAGCCGAAATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAACAAAAACAAAAACAAAAATTAAG CCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGG CGGGCAGATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	394	0.0025	-309	c.10 others(11): Show c.1012_*1320del	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		925		chr19	TogoVar
AP3S2_chr15_89825599_89898994	89853539	GGAAGTGA others(302): Show GGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGA GCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCG GCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCA CATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATG TGGGGAGCGCCTCTGCCCCGCTGCCCCATCTGGGATGTGAGGAGCGCCTC TGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCG CCCCGTCTGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG03453.hp2 HG02723.hp1 HG03209.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0016 a0003c0004t0016 a0001c0001t0016 a0003c0004t0016	a0001c0001t0016g0301 a0001c0001t0016g0302 a0003c0004t0016g0304 a0001c0001t0016g0301 a0001c0001t0016g0302 a0003c0004t0016g0304	3	312	0.0096	-309	c.346 others(19): Show c.346-16126_346-15818del	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APOBEC3G_chr22_39072275_39092743	39073475	AAAAAAAA others(302): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAGGCCAGGCGTGGTGTCTCATGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGG AGATGGAGCCCAGTCTGGCCAACATAGTGAAACCGCGTCTCTACTAAAAA TACACAAAAAGTTAGCCGGGCGTGGTGGTGTGCACCTGTAAACTCAGCTA GTCAGGGGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCAGAGGTTG CAGTGAGCCAAGATTGCCCCACTGCACTCCAGCCTGGGCGACAGAGCAAG ACACAATCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03579.hp1 HG01109.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0032 a0003c0004t0001g0032	2	424	0.0047	-309	c.-38 others(11): Show c.-3886_-3578del	APOBEC3G	ENSG00000239713.9	transcript	ENST00000407997.4	protein_coding		3799		chr22	TogoVar
ARHGEF15_chr17_8305241_8327511	8323485	AGGCCGGG others(302): Show AGGCCGGGTGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGAGAGGCCG AGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACA TGGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTG GTACATGCCTGTAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATCC TTTGAACCTGGGAGGCAGAAGTTGCAGGAGGTTGCAGTGAGCCGAGATAG CGCCATTGCACTCCAGCCTGGGCGACAGGGCGAGATTCCATCTCATAAAA ACAAAACAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0002 a0007c0018t0002	a0007c0018t0002g0059 a0007c0018t0002g0059	1	428	0.0023	-309	c.24 others(11): Show c.2493_*2801del	ARHGEF15	ENSG00000198844.12	transcript	ENST00000361926.8	protein_coding		975		chr17	TogoVar
CACNA1C_chr12_2047987_2702950	2407372	CGACACCA others(302): Show CGACACCATGTGGGTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAA CGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTC CACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAG GAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGT CTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGG AAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACAT CGTCTCCACT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG06807.hp1 HG02273.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0036 a0001c0002t0001g0043	2	104	0.0192	-309	c.478 others(19): Show c.478-41579_478-41271del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAPRIN1_chr11_34046731_34107610	34087321	TCTCTCAC others(302): Show TCTCTCACATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01884.hp1 others(24): Show HG00738.hp1 HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03654.hp1 HG03669.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 others(24): Show a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0003g0008 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029	27	246	0.1098	-309	c.123 others(18): Show c.1231+920_1231+1228del	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC126_chr7_23592382_23649708	23637616	GCTCCTCT others(302): Show GCTCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGACCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCAGCCGCCCAGTCCGGGAGGGAGGCGGGGAGGGGGGGGTCGGCCA GCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0318 a0001c0001t0005g0318	1	380	0.0026	-309	c.239 others(17): Show c.239-5313_239-5005del	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDH19_chr18_66496083_66609090	66547657	TTAGGTTT others(302): Show TTAGGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02559.hp2 others(7): Show HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03540.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0009 a0001c0001t0035 a0003c0005t0022 others(4): Show a0001c0001t0009 a0001c0001t0035 a0003c0005t0022 a0003c0005t0026 a0003c0005t0034 a0003c0005t0040 a0003c0005t0043	a0001c0001t0009g0130 a0001c0001t0009g0146 a0001c0001t0009g0219 others(7): Show a0001c0001t0009g0130 a0001c0001t0009g0146 a0001c0001t0009g0219 a0001c0001t0035g0172 a0003c0005t0022g0227 a0003c0005t0022g0346 a0003c0005t0026g0010 a0003c0005t0034g0113 a0003c0005t0040g0126 a0003c0005t0043g0228	10	354	0.0283	-309	c.776 others(17): Show c.776-3063_776-2755del	CDH19	ENSG00000071991.9	transcript	ENST00000262150.7	protein_coding	5/11			chr18	TogoVar
CDKN2D_chr19_10561460_10573979	10571745	AATGAGGT others(302): Show AATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGT CTCTACTAAAAATAACAATAATTAGTGGGGCATGGTGGCGCACGCCTGTA ATCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GTGGAGGTTGCAGTGAGCCGAAATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAACAAAAACAAAAACAAAAATTAAG CCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGG CGGGCAGATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	410	0.0024	-309	c.-34 others(11): Show c.-3401_-3093del	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		2767		chr19	TogoVar
CLIC4_chr1_24740447_24849321	24799928	GCCCCCCC others(302): Show GCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGGGGGGGGGTCAGC CCCCCCACCT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20752.hp1 HG03195.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0163 a0001c0001t0002g0114 a0001c0001t0002g0163	2	344	0.0058	-309	c.182 others(17): Show c.182+2078_182+2386del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5			chr1	TogoVar
CPNE7_chr16_89570758_89602246	89587808	CCCCCCGT others(302): Show CCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTAC CCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTT ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGT GTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCAC AGATACACGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0186 a0001c0002t0005g0186	1	348	0.0029	-309	c.927 others(15): Show c.927+753_928-512del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTNNA3_chr10_65907523_67701195	66481454	CTTGTTTC others(302): Show CTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGACTGCAGTGGCACGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02717.hp1 others(6): Show HG02280.hp1 HG02280.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp1 HG03130.hp1 HG03195.hp1 HG03540.hp2 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0004t0007 a0001c0007t0015 a0001c0011t0009 a0004c0008t0005	a0001c0001t0001g0006 a0001c0001t0002g0009 a0001c0001t0002g0024 others(6): Show a0001c0001t0001g0006 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0006g0027 a0001c0001t0016g0003 a0001c0004t0007g0005 a0001c0007t0015g0016 a0001c0011t0009g0017 a0004c0008t0005g0033	9	46	0.1957	-309	c.153 others(21): Show c.1531+38854_1531+39162del	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
DDX51_chr12_132131594_132149319	132135735	TCCTCCCA others(302): Show TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTG CCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACC TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	334	0.0030	-309	c.32 others(11): Show c.3228_*3536del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		858		chr12	TogoVar
ENAH_chr1_225481829_225658123	225621282	TTAAATCT others(302): Show TTAAATCTATCTCTCTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0105 a0001c0011t0105	a0001c0011t0105g0195 a0001c0011t0105g0195	1	308	0.0033	-309	c.5+3 others(15): Show c.5+31095_5+31403del	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
FBXW10B_chr17_15578886_15624704	15602615	TGAGACCG others(302): Show TGAGACCGAGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTCAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(161): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0002 a0004 a0006 others(11): Show a0002 a0004 a0006 a0009 a0010 a0012 a0017 a0019 a0020 a0021 a0023 a0027 a0036 a0038	a0002c0002 a0002c0053 a0002c0054 others(17): Show a0002c0002 a0002c0053 a0002c0054 a0002c0055 a0002c0057 a0004c0004 a0006c0006 a0009c0009 a0010c0010 a0010c0051 a0012c0024 a0017c0023 a0017c0052 a0019c0019 a0020c0022 a0021c0021 a0023c0025 a0027c0028 a0036c0056 a0038c0049	a0002c0002t0001 a0002c0002t0015 a0002c0002t0025 others(51): Show a0002c0002t0001 a0002c0002t0015 a0002c0002t0025 a0002c0002t0036 a0002c0002t0058 a0002c0002t0061 a0002c0002t0085 a0002c0053t0001 a0002c0054t0001 a0002c0055t0024 a0002c0057t0024 a0004c0004t0005 a0004c0004t0008 a0004c0004t0014 a0004c0004t0019 a0004c0004t0022 a0004c0004t0043 a0004c0004t0053 a0004c0004t0065 a0004c0004t0066 a0004c0004t0067 a0004c0004t0071 a0006c0006t0003 a0006c0006t0010 a0006c0006t0042 a0006c0006t0077 a0006c0006t0078 a0006c0006t0080 a0006c0006t0083 a0009c0009t0001 a0009c0009t0015 a0009c0009t0036 a0009c0009t0064 a0010c0010t0004 a0010c0010t0009 a0010c0010t0013 a0010c0010t0017 a0010c0010t0019 a0010c0010t0029 a0010c0010t0039 a0010c0051t0002 a0012c0024t0009 a0012c0024t0076 a0017c0023t0062 a0017c0052t0001 a0019c0019t0008 a0019c0019t0032 a0020c0022t0003 a0021c0021t0003 a0023c0025t0001 a0023c0025t0031 a0027c0028t0003 a0036c0056t0003 a0038c0049t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0007 others(142): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0080 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0101 a0002c0002t0001g0105 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0140 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0275 a0002c0002t0001g0284 a0002c0002t0001g0314 a0002c0002t0001g0322 a0002c0002t0015g0072 a0002c0002t0015g0127 a0002c0002t0015g0139 a0002c0002t0025g0104 a0002c0002t0036g0079 a0002c0002t0058g0108 a0002c0002t0061g0106 a0002c0002t0085g0081 a0002c0053t0001g0126 a0002c0054t0001g0112 a0002c0055t0024g0137 a0002c0057t0024g0138 a0004c0004t0005g0281 a0004c0004t0005g0288 a0004c0004t0005g0291 a0004c0004t0005g0292 a0004c0004t0005g0294 a0004c0004t0005g0295 a0004c0004t0005g0303 a0004c0004t0005g0304 a0004c0004t0005g0319 a0004c0004t0005g0320 a0004c0004t0005g0321 a0004c0004t0005g0399 a0004c0004t0005g0401 a0004c0004t0005g0402 a0004c0004t0005g0403 a0004c0004t0005g0404 a0004c0004t0005g0406 a0004c0004t0005g0407 a0004c0004t0005g0408 a0004c0004t0005g0409 a0004c0004t0008g0280 a0004c0004t0008g0293 a0004c0004t0008g0306 a0004c0004t0008g0307 a0004c0004t0008g0308 a0004c0004t0014g0019 a0004c0004t0019g0247 a0004c0004t0019g0248 a0004c0004t0022g0285 a0004c0004t0043g0020 a0004c0004t0053g0283 a0004c0004t0065g0246 a0004c0004t0066g0405 a0004c0004t0067g0323 a0004c0004t0071g0289 a0006c0006t0003g0071 a0006c0006t0003g0100 a0006c0006t0003g0125 a0006c0006t0003g0128 a0006c0006t0003g0134 a0006c0006t0003g0245 a0006c0006t0003g0279 a0006c0006t0003g0282 a0006c0006t0003g0298 a0006c0006t0003g0299 a0006c0006t0003g0300 a0006c0006t0010g0006 a0006c0006t0010g0008 a0006c0006t0010g0073 a0006c0006t0010g0085 a0006c0006t0010g0097 a0006c0006t0042g0302 a0006c0006t0077g0135 a0006c0006t0078g0099 a0006c0006t0080g0301 a0006c0006t0083g0066 a0009c0009t0001g0017 a0009c0009t0001g0018 a0009c0009t0001g0227 a0009c0009t0001g0229 a0009c0009t0001g0230 a0009c0009t0001g0231 a0009c0009t0015g0212 a0009c0009t0036g0392 a0009c0009t0064g0228 a0010c0010t0004g0093 a0010c0010t0009g0113 a0010c0010t0013g0107 a0010c0010t0017g0075 a0010c0010t0019g0069 a0010c0010t0029g0005 a0010c0010t0029g0143 a0010c0010t0039g0077 a0010c0051t0002g0103 a0012c0024t0009g0157 a0012c0024t0076g0240 a0017c0023t0062g0297 a0017c0052t0001g0316 a0019c0019t0008g0252 a0019c0019t0032g0038 a0019c0019t0032g0039 a0020c0022t0003g0076 a0020c0022t0003g0102 a0020c0022t0003g0133 a0021c0021t0003g0286 a0021c0021t0003g0287 a0021c0021t0003g0290 a0023c0025t0001g0324 a0023c0025t0031g0047 a0027c0028t0003g0074 a0036c0056t0003g0067 a0038c0049t0001g0249	164	452	0.3628	-309	c.143 others(19): Show c.1433+2299_1433+2607del	FBXW10B	ENSG00000241322.11	transcript	ENST00000395906.8	protein_coding	7/11			chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241805252	TCCCCCCT others(302): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	314	0.0032	-309	c.10 others(11): Show c.1087_*1395del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		966		chr2	TogoVar
HDAC9_chr7_18490749_19007416	18786470	CGTCCTTC others(302): Show CGTCCTTCCTTCCTTTCTTCCTTCCTTCCTTCCTTCCTCTCTCTCATGTA CTTTTTGCTCACATACACTTCCTGTGTCCCCTGTTTCTGTCACACCTCTT GGGTATGGCTGGCTGGCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC TCCCTCCCTCCTTCCTTCCTTTCTTCCCTCCTTCTTTCCTCCCTTCCTCC CTTCCTTCCTTTTTGCTCACATATCCCTTTCTGTGTCCTCGGTTTCTGTT GCATGCGCCTCTTGAGTCTAGCTTTCTTTCCTTCCTTTTCTTTTTTCTCT CTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG02976.hp2 others(1): Show HG02818.hp1 HG02965.hp2 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0002t0032	a0001c0001t0001g0096 a0001c0001t0006g0142 a0001c0001t0010g0005 others(1): Show a0001c0001t0001g0096 a0001c0001t0006g0142 a0001c0001t0010g0005 a0001c0002t0032g0018	4	156	0.0256	-309	c.221 others(19): Show c.2215-6874_2215-6566del	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25			chr7	TogoVar
MSH3_chr5_80649652_80881815	80743552	TAAAAAAA others(302): Show TAAAAAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(303): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(34): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0035 a0036 a0037 a0038 a0039	a0001c0001 a0001c0002 a0001c0025 others(41): Show a0001c0001 a0001c0002 a0001c0025 a0001c0038 a0002c0003 a0003c0004 a0003c0023 a0004c0005 a0006c0007 a0006c0042 a0007c0008 a0007c0035 a0008c0010 a0008c0024 a0009c0009 a0010c0014 a0011c0012 a0012c0013 a0013c0011 a0014c0022 a0015c0021 a0016c0019 a0017c0020 a0018c0017 a0019c0018 a0020c0016 a0021c0015 a0022c0044 a0023c0043 a0024c0041 a0025c0040 a0026c0039 a0027c0037 a0028c0034 a0029c0036 a0030c0033 a0031c0032 a0032c0031 a0033c0046 a0035c0029 a0036c0028 a0037c0027 a0038c0026 a0039c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0016 a0001c0025t0001 a0001c0038t0002 a0002c0003t0003 a0002c0003t0014 a0003c0004t0004 a0003c0004t0010 a0003c0004t0021 a0003c0004t0024 a0003c0004t0025 a0003c0023t0004 a0004c0005t0003 a0004c0005t0007 a0004c0005t0013 a0004c0005t0029 a0006c0007t0006 a0006c0007t0008 a0006c0042t0005 a0007c0008t0005 a0007c0008t0010 a0007c0008t0027 a0007c0035t0010 a0008c0010t0009 a0008c0024t0009 a0009c0009t0002 a0009c0009t0016 a0010c0014t0011 a0011c0012t0015 a0012c0013t0005 a0013c0011t0005 a0014c0022t0004 a0015c0021t0004 a0016c0019t0004 a0016c0019t0017 a0017c0020t0001 a0018c0017t0007 a0019c0018t0001 a0020c0016t0005 a0021c0015t0005 a0022c0044t0004 a0023c0043t0004 a0024c0041t0028 a0025c0040t0018 a0026c0039t0002 a0027c0037t0020 a0028c0034t0005 a0029c0036t0006 a0030c0033t0001 a0031c0032t0004 a0032c0031t0005 a0033c0046t0004 a0035c0029t0017 a0036c0028t0005 a0037c0027t0023 a0038c0026t0005 a0039c0045t0005	a0001c0001t0001g0167 a0001c0001t0002g0039 a0001c0001t0002g0043 others(301): Show a0001c0001t0001g0167 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0005g0183 a0001c0001t0005g0311 a0001c0001t0005g0315 a0001c0001t0006g0323 a0001c0001t0006g0325 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0006g0334 a0001c0001t0006g0335 a0001c0001t0006g0336 a0001c0001t0006g0337 a0001c0001t0006g0338 a0001c0001t0006g0339 a0001c0001t0006g0340 a0001c0001t0006g0344 a0001c0001t0007g0223 a0001c0001t0007g0224 a0001c0001t0008g0312 a0001c0001t0008g0313 a0001c0001t0008g0314 a0001c0001t0008g0317 a0001c0001t0008g0318 a0001c0001t0008g0319 a0001c0001t0008g0320 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0008g0329 a0001c0001t0008g0341 a0001c0001t0008g0343 a0001c0001t0011g0316 a0001c0001t0019g0064 a0001c0001t0022g0304 a0001c0001t0026g0324 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0005g0036 a0001c0002t0005g0037 a0001c0002t0005g0038 a0001c0002t0006g0021 a0001c0002t0016g0130 a0001c0025t0001g0118 a0001c0038t0002g0089 a0002c0003t0003g0003 a0002c0003t0003g0004 a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0008 a0002c0003t0014g0005 a0003c0004t0004g0001 a0003c0004t0004g0226 a0003c0004t0004g0230 a0003c0004t0004g0231 a0003c0004t0004g0233 a0003c0004t0004g0234 a0003c0004t0004g0235 a0003c0004t0004g0238 a0003c0004t0004g0240 a0003c0004t0004g0244 a0003c0004t0004g0248 a0003c0004t0004g0249 a0003c0004t0004g0250 a0003c0004t0004g0251 a0003c0004t0004g0252 a0003c0004t0004g0253 a0003c0004t0004g0254 a0003c0004t0004g0255 a0003c0004t0004g0262 a0003c0004t0004g0264 a0003c0004t0004g0265 a0003c0004t0004g0266 a0003c0004t0004g0267 a0003c0004t0004g0268 a0003c0004t0004g0269 a0003c0004t0004g0270 a0003c0004t0004g0277 a0003c0004t0004g0278 a0003c0004t0004g0298 a0003c0004t0004g0303 a0003c0004t0004g0345 a0003c0004t0010g0246 a0003c0004t0021g0257 a0003c0004t0024g0245 a0003c0004t0025g0260 a0003c0023t0004g0241 a0003c0023t0004g0259 a0004c0005t0003g0309 a0004c0005t0007g0002 a0004c0005t0007g0225 a0004c0005t0007g0274 a0004c0005t0007g0275 a0004c0005t0007g0276 a0004c0005t0007g0279 a0004c0005t0007g0280 a0004c0005t0007g0282 a0004c0005t0007g0286 a0004c0005t0007g0290 a0004c0005t0007g0291 a0004c0005t0007g0293 a0004c0005t0007g0294 a0004c0005t0007g0305 a0004c0005t0007g0306 a0004c0005t0007g0308 a0004c0005t0013g0281 a0004c0005t0013g0288 a0004c0005t0013g0292 a0004c0005t0029g0287 a0006c0007t0006g0263 a0006c0007t0006g0310 a0006c0007t0008g0239 a0006c0007t0008g0243 a0006c0007t0008g0273 a0006c0007t0008g0285 a0006c0007t0008g0295 a0006c0007t0008g0296 a0006c0007t0008g0297 a0006c0042t0005g0272 a0007c0008t0005g0016 a0007c0008t0005g0017 a0007c0008t0005g0342 a0007c0008t0010g0052 a0007c0008t0010g0053 a0007c0008t0027g0031 a0007c0035t0010g0139 a0008c0010t0009g0211 a0008c0010t0009g0212 a0008c0010t0009g0221 a0008c0024t0009g0213 a0009c0009t0002g0041 a0009c0009t0002g0066 a0009c0009t0002g0076 a0009c0009t0002g0081 a0009c0009t0016g0040 a0010c0014t0011g0300 a0010c0014t0011g0301 a0010c0014t0011g0302 a0011c0012t0015g0283 a0011c0012t0015g0284 a0012c0013t0005g0033 a0012c0013t0005g0034 a0012c0013t0005g0035 a0013c0011t0005g0013 a0013c0011t0005g0014 a0013c0011t0005g0029 a0014c0022t0004g0236 a0014c0022t0004g0237 a0015c0021t0004g0242 a0015c0021t0004g0271 a0016c0019t0004g0261 a0016c0019t0017g0289 a0017c0020t0001g0042 a0017c0020t0001g0133 a0018c0017t0007g0227 a0018c0017t0007g0228 a0019c0018t0001g0127 a0019c0018t0001g0157 a0020c0016t0005g0009 a0020c0016t0005g0010 a0021c0015t0005g0012 a0021c0015t0005g0030 a0022c0044t0004g0256 a0023c0043t0004g0232 a0024c0041t0028g0258 a0025c0040t0018g0088 a0026c0039t0002g0060 a0027c0037t0020g0222 a0028c0034t0005g0180 a0029c0036t0006g0018 a0030c0033t0001g0032 a0031c0032t0004g0020 a0032c0031t0005g0022 a0033c0046t0004g0247 a0035c0029t0017g0229 a0036c0028t0005g0015 a0037c0027t0023g0019 a0038c0026t0005g0011 a0039c0045t0005g0028	306	362	0.8453	-309	c.165 others(17): Show c.1654-943_1654-635del	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEU4_chr2_241804193_241822413	241805252	TCCCCCCT others(302): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0035 a0002c0003t0002g0035	2	319	0.0063	-309	c.-40 others(11): Show c.-4025_-3717del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3940		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132150331	CTAATCCC others(302): Show CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATA CCACACCCCT	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	294	0.0034	-309	c.902 others(15): Show c.902-649_902-341del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
OSBPL1A_chr18_24157052_24402824	24331385	TGGCATGT others(302): Show TGGCATGTTCCTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC CGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG03579.hp1 HG01884.hp1 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0003t0003g0173 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0003t0003g0173	3	206	0.0146	-309	c.625 others(17): Show c.625+1248_625+1556del	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	7/27			chr18	TogoVar
PALM_chr19_703935_753329	735427	TGGGATCC others(302): Show TGGGATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGATGTCTGGGGGC CCAGGTGCCTGTGTCCGGGTGTCTGGGTGGGATCTGTGTGTCTGAGGGCC CAGGTGCCTGTCTGGGTGTCTGGGGGCCCAGGTTCCTGTGTCTGGGTGTC TGGGTGGGATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGGTGTCTGG GGGCCCAGGTGCCTGTGTCCGGGTGTCTGGGTGGGATCCGTGTGTCTGAG GGCCCAGGTGCCTGTCTGGGTGTCTGGGGGCCCAGGTTCCTGTGTCTGGG TGTCTGGGTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0380 a0002c0001t0002g0380	1	404	0.0025	-309	c.443 others(15): Show c.443-589_443-281del	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2122550	CACGGTGG others(302): Show CACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCG TGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTT GTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGT GGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGG TGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGT GGTTAGGGTT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0010	1	286	0.0035	-309	c.335 others(19): Show c.335-12711_335-12403del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PTPRJ_chr11_47975559_48175839	48098509	TTTTATCT others(302): Show TTTTATCTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGAC TACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCCCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(126): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19007.hp1 NA19030.hp2 NA19062.hp2 NA19070.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012 a0013 a0015 a0016 a0017	a0001c0005 a0001c0006 a0001c0015 others(15): Show a0001c0005 a0001c0006 a0001c0015 a0001c0028 a0002c0001 a0003c0002 a0003c0022 a0003c0023 a0004c0007 a0004c0008 a0005c0012 a0006c0010 a0009c0014 a0012c0029 a0013c0025 a0015c0019 a0016c0020 a0017c0021	a0001c0005t0004 a0001c0005t0007 a0001c0005t0011 others(59): Show a0001c0005t0004 a0001c0005t0007 a0001c0005t0011 a0001c0005t0041 a0001c0005t0042 a0001c0005t0055 a0001c0005t0064 a0001c0005t0065 a0001c0006t0051 a0001c0006t0053 a0001c0015t0008 a0001c0015t0023 a0001c0028t0040 a0002c0001t0002 a0002c0001t0004 a0002c0001t0007 a0002c0001t0009 a0002c0001t0011 a0002c0001t0015 a0002c0001t0019 a0002c0001t0025 a0002c0001t0026 a0002c0001t0035 a0002c0001t0062 a0002c0001t0066 a0003c0002t0001 a0003c0002t0004 a0003c0002t0006 a0003c0002t0010 a0003c0002t0031 a0003c0002t0043 a0003c0002t0059 a0003c0002t0060 a0003c0002t0061 a0003c0002t0067 a0003c0002t0068 a0003c0002t0069 a0003c0022t0010 a0003c0023t0001 a0004c0007t0021 a0004c0007t0028 a0004c0007t0029 a0004c0007t0047 a0004c0007t0048 a0004c0008t0005 a0004c0008t0039 a0004c0008t0073 a0005c0012t0036 a0005c0012t0070 a0005c0012t0071 a0006c0010t0013 a0006c0010t0016 a0006c0010t0022 a0006c0010t0027 a0009c0014t0007 a0009c0014t0019 a0009c0014t0063 a0012c0029t0052 a0013c0025t0049 a0015c0019t0006 a0016c0020t0001 a0017c0021t0006	a0001c0005t0004g0150 a0001c0005t0004g0206 a0001c0005t0007g0205 others(126): Show a0001c0005t0004g0150 a0001c0005t0004g0206 a0001c0005t0007g0205 a0001c0005t0011g0199 a0001c0005t0011g0204 a0001c0005t0041g0070 a0001c0005t0042g0071 a0001c0005t0055g0002 a0001c0005t0064g0172 a0001c0005t0065g0179 a0001c0006t0051g0197 a0001c0006t0053g0159 a0001c0015t0008g0152 a0001c0015t0023g0153 a0001c0028t0040g0020 a0002c0001t0002g0026 a0002c0001t0002g0056 a0002c0001t0002g0069 a0002c0001t0002g0076 a0002c0001t0002g0126 a0002c0001t0002g0127 a0002c0001t0002g0129 a0002c0001t0002g0130 a0002c0001t0002g0144 a0002c0001t0002g0157 a0002c0001t0002g0161 a0002c0001t0002g0162 a0002c0001t0002g0200 a0002c0001t0002g0211 a0002c0001t0004g0052 a0002c0001t0004g0054 a0002c0001t0004g0073 a0002c0001t0004g0087 a0002c0001t0007g0017 a0002c0001t0007g0023 a0002c0001t0007g0040 a0002c0001t0007g0049 a0002c0001t0007g0050 a0002c0001t0007g0188 a0002c0001t0009g0160 a0002c0001t0011g0022 a0002c0001t0011g0027 a0002c0001t0011g0028 a0002c0001t0011g0051 a0002c0001t0015g0143 a0002c0001t0015g0163 a0002c0001t0015g0164 a0002c0001t0015g0171 a0002c0001t0019g0031 a0002c0001t0019g0119 a0002c0001t0019g0181 a0002c0001t0025g0029 a0002c0001t0025g0030 a0002c0001t0025g0032 a0002c0001t0026g0148 a0002c0001t0026g0190 a0002c0001t0035g0047 a0002c0001t0035g0048 a0002c0001t0062g0146 a0002c0001t0066g0057 a0003c0002t0001g0004 a0003c0002t0001g0005 a0003c0002t0001g0117 a0003c0002t0001g0142 a0003c0002t0001g0147 a0003c0002t0001g0167 a0003c0002t0001g0170 a0003c0002t0001g0173 a0003c0002t0001g0180 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0192 a0003c0002t0001g0194 a0003c0002t0001g0196 a0003c0002t0001g0209 a0003c0002t0004g0210 a0003c0002t0006g0151 a0003c0002t0006g0154 a0003c0002t0006g0168 a0003c0002t0006g0193 a0003c0002t0006g0202 a0003c0002t0006g0208 a0003c0002t0010g0110 a0003c0002t0010g0166 a0003c0002t0010g0176 a0003c0002t0010g0191 a0003c0002t0010g0207 a0003c0002t0031g0149 a0003c0002t0031g0177 a0003c0002t0043g0203 a0003c0002t0059g0195 a0003c0002t0060g0155 a0003c0002t0061g0183 a0003c0002t0067g0174 a0003c0002t0068g0187 a0003c0002t0069g0175 a0003c0022t0010g0156 a0003c0023t0001g0189 a0004c0007t0021g0136 a0004c0007t0021g0137 a0004c0007t0021g0141 a0004c0007t0028g0133 a0004c0007t0029g0139 a0004c0007t0029g0140 a0004c0007t0047g0138 a0004c0007t0048g0135 a0004c0008t0005g0077 a0004c0008t0005g0078 a0004c0008t0039g0037 a0004c0008t0039g0038 a0004c0008t0073g0036 a0005c0012t0036g0018 a0005c0012t0036g0041 a0005c0012t0070g0016 a0005c0012t0071g0019 a0006c0010t0013g0007 a0006c0010t0016g0010 a0006c0010t0022g0009 a0006c0010t0027g0112 a0006c0010t0027g0116 a0009c0014t0007g0025 a0009c0014t0019g0021 a0009c0014t0063g0024 a0012c0029t0052g0182 a0013c0025t0049g0008 a0015c0019t0006g0165 a0016c0020t0001g0169 a0017c0021t0006g0178	129	216	0.5972	-309	c.97- others(17): Show c.97-11538_97-11230del	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PYROXD1_chr12_21432655_21476250	21469557	GGTTATGT others(302): Show GGTTATGTCAAAAGAAAAAATATAGCTAAGTATATAAAGGCATAAAAAAC TTAAGACAATTACATGAACTTATTCTCAAATATTTTACATTTTTTGTAAA CTTTCTTAAAACATGAGATTTTTCTTGCAATTTTTTTTTTAAGCTCATCA GCTATCATCAGTGTTAGCATATTTTATGTGCGGCCCAAGACAATTCTTCT TCCAATGTGGCTCAGGGAAGCCAAAAGATTGGACATCCTTGATCTACATA TTTAACTTAAAGTATCACTCAGTGAGCCTCTGTCAGTATAATATTGCTTT CAAAAAGATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0057 a0001c0001t0033g0057	1	416	0.0024	-309	c.86 others(10): Show c.860_*1168del	PYROXD1	ENSG00000121350.16	transcript	ENST00000240651.14	protein_coding	12/12	860	INFO_REALIGN_3_PRIME	chr12	TogoVar
RECQL_chr12_21463910_21506635	21469557	GGTTATGT others(302): Show GGTTATGTCAAAAGAAAAAATATAGCTAAGTATATAAAGGCATAAAAAAC TTAAGACAATTACATGAACTTATTCTCAAATATTTTACATTTTTTGTAAA CTTTCTTAAAACATGAGATTTTTCTTGCAATTTTTTTTTTAAGCTCATCA GCTATCATCAGTGTTAGCATATTTTATGTGCGGCCCAAGACAATTCTTCT TCCAATGTGGCTCAGGGAAGCCAAAAGATTGGACATCCTTGATCTACATA TTTAACTTAAAGTATCACTCAGTGAGCCTCTGTCAGTATAATATTGCTTT CAAAAAGATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0243 a0001c0001t0047g0243	1	404	0.0025	-309	c.32 others(9): Show c.328_*636del	RECQL	ENSG00000004700.16	transcript	ENST00000444129.7	protein_coding	15/15	328		chr12	TogoVar
RGPD1_chr2_86937118_87018976	86970524	AGGTTTGC others(302): Show AGGTTTGCCTCTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00642.hp2 others(8): Show HG00280.hp2 HG00558.hp1 HG00642.hp2 HG02083.hp2 HG02300.hp2 HG03927.hp2 NA18943.hp2 NA18961.hp2 NA18982.hp2 NA19004.hp2 NA19058.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0011c0012t0002	a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 others(8): Show a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0009g0091 a0001c0001t0010g0100 a0001c0001t0011g0092 a0011c0012t0002g0093	11	102	0.1078	-309	c.106 others(18): Show c.1064-1208_1064-900del	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD2_chr2_87750960_87830796	87799072	CAGAAGAG others(302): Show CAGAAGAGGCAAACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0001 a0015c0024t0001	a0015c0024t0001g0014 a0015c0024t0001g0014	1	176	0.0057	-309	c.106 others(18): Show c.1064-1207_1064-899del	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	8/22			chr2	TogoVar
RTP5_chr2_241864729_241878823	241865353	TGTGTGTA others(302): Show TGTGTGTAATGTGTTGTGTGTGTGTAGTGTGTGTGATGTGTGGGTGTGTG TGTAGTGTGTGTGGTGTATGTGGTATGGTGTGTGTGCTGTGTGTGGTGTG TGTAGAGTGTGTTGTGTGTGTAGTGTGTGTTGTGTATGGTTTGTGTGATG TGTGTGTAGGGTGGTGTGTGTTGTAAGTGTGGTGTGTGTAGTGTGTGTGT GTGGTGTGTGTAATGTGCGTTTATGTGTGGTGTGTGTAGTGTGTGGTGTG TGTAGTGTGTGATGTGTGTAGTGTATGTAGTGTGTGGTGTGTGTAGTGTG TGGTGTGTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	-309	c.-44 others(11): Show c.-4403_-4095del	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4375		chr2	TogoVar
SARDH_chr9_133658560_133743352	133668707	CCTCTCCC others(302): Show CCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCA CCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACC CTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACC CTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTC CCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCC TCTCCCCTTA	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0102 a0001c0027t0001g0102	1	262	0.0038	-309	c.249 others(19): Show c.2495+1568_2496-1838del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCARA5_chr8_27864883_27997673	27918791	AAAGAGGA others(302): Show AAAGAGGAGGAGGAGGAGGGGAAGGAAAAGGATAAGGAAGAAAGGGAAGA GGAGAGAGAAGAAGAGGAGAAGGAGGAGGGGAAGAAGGAGAAGGAGGAGG GGAAGAAAGAGGAGGAGGAAGGGAAGGAGGAGGAGGAAGATGAGAAGGAG GGGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAAGAGGAGGAGGAGGGGAG AAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGG AGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGTGGAG GAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02572.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0256 a0001c0003t0002g0029 a0001c0003t0001g0256 a0001c0003t0002g0029	2	314	0.0064	-309	c.916 others(17): Show c.916+2471_916+2779del	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SHMT1_chr17_18322873_18368550	18338015	GTCTCTGC others(302): Show GTCTCTGCCTGGCCGCTCATCATCTGGGATGTGAGGAGCCCCTCTGCCTG GCTGCCCAGTCTGGGAAGTGAGGAGCGCCTCTTCCCGGCCGCCATCCCGT CTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCATCTGAGATGTGG GGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCACCTCTGC CCGGCTGCAACCCCGTCTGGGAGGTGAGGAGGGTCTCTGCCCGGCTGCCC CATCTGAGAAGTGAGGAGCCCCTCCGCCTGGCAGTCGCCCCGTCTGGGAA GTGAGGAGCA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02055.hp2 NA20300.hp2 HG01361.hp2 HG02055.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0196 a0002c0002t0005g0197 a0002c0002t0005g0198 a0002c0002t0005g0196 a0002c0002t0005g0197 a0002c0002t0005g0198	3	220	0.0136	-309	c.814 others(17): Show c.814+1719_814+2027del	SHMT1	ENSG00000176974.22	transcript	ENST00000316694.8	protein_coding	7/11			chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79921537	GGAACCGA others(302): Show GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAG ATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGG GAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGG AGAGACAGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG01106.hp2 others(33): Show HG00323.hp2 HG00597.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01361.hp1 HG01928.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG04199.hp2 NA18942.hp2 NA18943.hp1 NA18952.hp2 NA18954.hp2 NA18966.hp1 NA18979.hp1 NA18980.hp2 NA18999.hp1 NA19005.hp2 NA19054.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19084.hp2 NA19090.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0002 a0001c0001 a0001c0004 a0004c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0028 a0001c0001t0036 a0001c0001t0039 a0001c0004t0008 a0004c0002t0006	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0062 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0260 a0001c0001t0003g0011 a0001c0001t0003g0300 a0001c0001t0003g0309 a0001c0001t0003g0313 a0001c0001t0003g0330 a0001c0001t0004g0247 a0001c0001t0004g0251 a0001c0001t0006g0237 a0001c0001t0006g0246 a0001c0001t0006g0248 a0001c0001t0007g0135 a0001c0001t0008g0258 a0001c0001t0008g0259 a0001c0001t0008g0262 a0001c0001t0010g0174 a0001c0001t0011g0305 a0001c0001t0011g0306 a0001c0001t0017g0167 a0001c0001t0017g0245 a0001c0001t0017g0252 a0001c0001t0028g0261 a0001c0001t0036g0233 a0001c0001t0039g0256 a0001c0004t0008g0263 a0004c0002t0006g0255	36	352	0.1023	-309	c.392 others(17): Show c.392-2446_392-2138del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SMOC2_chr6_168436184_168672992	168594500	GCTCCTCC others(302): Show GCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCTCTG AGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCTCC GAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATGGC CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCT CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATC TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CGCCGAGCTC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	180	0.0056	-309	c.638 others(17): Show c.638-4309_638-4001del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7363654	CACCACCA others(302): Show CACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAACCATG CCTCACCATCATCATCACCATCACCACCATTGTGGTGTATCACCATTACC ATCACCGTCACCATAACCATGCCTCACCATCATCATCACCATCACCACCA TTGTGGTGTATCACCATTACCATCACCGTCACCATAACCATGCCTCACCA TCATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCACCGT CACCATAACCATGCCTCACCATCATCATCACCATCACCACCATTGTGGTG TATCACCATT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	168	0.0060	-309	c.481 others(19): Show c.481-32629_481-32321del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
TDRD10_chr1_154497219_154553147	154525845	GAGATTGT others(302): Show GAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAGAGGCTGGGCGTGGTGGCTCACGCC GGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCAGG AGTTTGAGACCACCCTGGCCAATATGGTGAAACCCCATCTCTAATAAAAA AAATACAAAAATTAGCCAGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGGTGGAGGTTG CAGTGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0033 a0001c0001t0014g0033	1	332	0.0030	-309	c.369 others(17): Show c.369+4386_369+4694del	TDRD10	ENSG00000163239.12	transcript	ENST00000368482.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129856505	GGGGAAAC others(302): Show GGGGAAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGG AGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTA ACAGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	94	0.0106	-309	c.79+ others(17): Show c.79+46447_79+46755del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129856680	AGGGGAAC others(302): Show AGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGG GTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCG GGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGG TGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGA GTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGG ATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATA ACAGAGTCCG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	94	0.0106	-309	c.79+ others(17): Show c.79+46272_79+46580del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857339	GGGGAAAC others(302): Show GGGGAAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGG AGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTA ACAGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	94	0.0106	-309	c.79+ others(17): Show c.79+45613_79+45921del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM243_chr7_87191160_87224732	87207298	CAGAAAAG others(302): Show CAGAAAAGCAAAAGCCGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCCACCTGGGCCACAGAGCGAGACTCCGTCTCAA AAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(272): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0002 a0001c0001 a0003c0004 a0004c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0003c0004t0001 a0004c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(166): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0002g0056 a0001c0001t0002g0234 a0001c0001t0003g0057 a0001c0001t0004g0067 a0001c0001t0005g0150 a0003c0004t0001g0140 a0004c0002t0001g0154	275	400	0.6875	-309	c.79- others(15): Show c.79-8550_79-8242del	TMEM243	ENSG00000135185.12	transcript	ENST00000257637.8	protein_coding	1/3			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159129139	TGGGGGGG others(302): Show TGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGCTTCACACTC TGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTC ACACTCTGTTCCCTCAAACTGGCCTCTGGGGGGGACAGGGCTGGGGGGAC AGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGT GGGGACAGGGCCAGGTGACCAGCTTCACACTCTGCTCCCTCAAACTGGCC TCTGGCGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAA CTGGCCTCTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19240.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0156 a0001c0002t0007g0157 a0001c0002t0007g0156 a0001c0002t0007g0157	2	336	0.0060	-309	c.151 others(19): Show c.151+12998_151+13306del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
WBP1L_chr10_102738948_102821262	102772526	GCTGGGAT others(302): Show GCTGGGATTACAAGCATGAGCCATGCCCGGCCCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTCGCTCAGGCTGGAGTGCA GTGGTGTGATCTTGGCTCACTGCAACCTCTCCCTCCTGGGCTCAAGTGTC CCTCCCACCTCAGCTTCCCGAGTAGCTGAGACAACAGGCATGTGCCACCA TGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGTTTTGCCATGTTG CCCAAGCTGGTTTTGAACTCCTGGGCTCAAGCAATCTGCCCACCTCAGCC TCCCAAAGTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG03225.hp1 others(1): Show HG02145.hp1 HG02622.hp1 HG03225.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0112 a0002c0005t0007g0113 a0002c0005t0007g0114 others(1): Show a0002c0005t0007g0112 a0002c0005t0007g0113 a0002c0005t0007g0114 a0002c0005t0007g0115	4	360	0.0111	-309	c.91- others(17): Show c.91-25464_91-25156del	WBP1L	ENSG00000166272.18	transcript	ENST00000448841.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241690484	ACTTGAAA others(302): Show ACTTGAAATGAGCCAGAGGGGAAAAAAACAACTTATCTGTAGAAAAGCAA AGACAAGAATTACTTGTGATTTTTCCTCAGAAATCATAAGCAAGAACAGT TGAGTGAAATATTTAAAGTGTTAGAAGACCTACCAGCCTAGAATTCTGTA TACCGTGAAATTAGCCTTTAAAAGTGAAGGAGAAATAAAACTTTCTCGGA CAAACAGAAATTGAGGAAATATGCTATCAGTATACCTGCTTTTCAAGAAA GGGTAAAAGAAGTTCTTCAGAGAGAAAGAAAAGCCGTAAGTCAGAAACTT GCATCTATAT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19082.hp2 NA18944.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0031 a0001c0002t0001g0068 a0001c0001t0004g0031 a0001c0002t0001g0068	2	326	0.0061	-309	c.974 others(17): Show c.974+2890_974+3198del	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	8/27			chr1	TogoVar
ZNF516_chr18_76352682_76500242	76393167	AGGTGGTC others(302): Show AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0183 a0006c0041t0183	a0006c0041t0183g0127 a0006c0041t0183g0127	1	346	0.0029	-309	c.181 others(21): Show c.1811-13173_1811-12865del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar

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Search Results (Total: 10000 hits)