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
TM4SF19_chr3_196318547_196343388	196334825	GTGCCCTG others(275): Show GTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGG TGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAG GGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAG AAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGG AGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTG CACTGGGAGGGTGGGGGTAGGAGAGGGAAGGGA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19070.hp2 NA18945.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0165 a0001c0001t0001g0166	2	370	0.0054	-282	c.-2+ others(15): Show c.-2+3157_-2+3438del	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMEM156_chr4_38961744_39037409	39029456	TAAGAACT others(275): Show TAAGAACTAATTTTTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0009 others(8): Show a0001c0001 a0001c0003 a0001c0009 a0001c0010 a0001c0011 a0002c0002 a0002c0007 a0003c0004 a0004c0005 a0005c0006 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0009t0001 a0001c0009t0003 a0001c0010t0003 a0001c0011t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0007t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0005c0006t0001 a0005c0006t0003 a0006c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(276): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0372 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0052 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0122 a0001c0001t0002g0136 a0001c0001t0002g0147 a0001c0001t0002g0159 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0208 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0264 a0001c0001t0002g0374 a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0051 a0001c0001t0003g0067 a0001c0001t0003g0088 a0001c0001t0003g0098 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0146 a0001c0001t0003g0178 a0001c0001t0003g0195 a0001c0001t0003g0220 a0001c0001t0003g0238 a0001c0001t0003g0265 a0001c0001t0004g0014 a0001c0001t0004g0045 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0095 a0001c0001t0004g0144 a0001c0001t0004g0153 a0001c0001t0004g0191 a0001c0001t0004g0196 a0001c0001t0004g0200 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0217 a0001c0001t0004g0221 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0263 a0001c0001t0005g0007 a0001c0001t0005g0054 a0001c0001t0005g0164 a0001c0001t0005g0167 a0001c0001t0005g0177 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0190 a0001c0001t0005g0194 a0001c0001t0005g0197 a0001c0001t0005g0224 a0001c0001t0005g0267 a0001c0001t0005g0371 a0001c0001t0005g0373 a0001c0001t0006g0015 a0001c0001t0007g0062 a0001c0001t0007g0161 a0001c0001t0008g0377 a0001c0001t0009g0179 a0001c0001t0009g0189 a0001c0001t0010g0092 a0001c0001t0011g0182 a0001c0001t0014g0107 a0001c0001t0015g0093 a0001c0001t0016g0106 a0001c0003t0001g0205 a0001c0003t0002g0006 a0001c0003t0002g0151 a0001c0003t0002g0203 a0001c0003t0002g0206 a0001c0003t0002g0209 a0001c0003t0002g0242 a0001c0003t0002g0261 a0001c0003t0003g0097 a0001c0003t0004g0023 a0001c0009t0001g0066 a0001c0009t0003g0071 a0001c0010t0003g0004 a0001c0011t0001g0198 a0002c0002t0001g0012 a0002c0002t0001g0022 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0057 a0002c0002t0001g0063 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0126 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0002t0001g0145 a0002c0002t0001g0148 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0181 a0002c0002t0001g0199 a0002c0002t0001g0219 a0002c0002t0001g0227 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0002g0002 a0002c0002t0002g0048 a0002c0002t0002g0059 a0002c0002t0002g0078 a0002c0002t0002g0082 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0108 a0002c0002t0002g0116 a0002c0002t0002g0125 a0002c0002t0002g0135 a0002c0002t0002g0141 a0002c0002t0002g0156 a0002c0002t0002g0183 a0002c0002t0002g0193 a0002c0002t0002g0210 a0002c0002t0002g0215 a0002c0002t0002g0237 a0002c0002t0002g0243 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0383 a0002c0002t0003g0043 a0002c0002t0003g0058 a0002c0002t0003g0080 a0002c0002t0003g0083 a0002c0002t0003g0084 a0002c0002t0003g0091 a0002c0002t0003g0121 a0002c0002t0003g0128 a0002c0002t0003g0239 a0002c0002t0003g0245 a0002c0002t0003g0382 a0002c0002t0004g0001 a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0042 a0002c0002t0004g0103 a0002c0002t0004g0123 a0002c0002t0004g0149 a0002c0002t0004g0250 a0002c0002t0004g0251 a0002c0002t0004g0257 a0002c0002t0004g0258 a0002c0002t0005g0166 a0002c0002t0005g0381 a0002c0002t0006g0018 a0002c0002t0006g0064 a0002c0007t0001g0253 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0229 a0003c0004t0001g0230 a0003c0004t0002g0111 a0003c0004t0002g0113 a0003c0004t0002g0155 a0003c0004t0003g0016 a0004c0005t0001g0118 a0004c0005t0001g0226 a0004c0005t0002g0170 a0004c0005t0002g0174 a0004c0005t0003g0212 a0004c0005t0005g0165 a0005c0006t0001g0032 a0005c0006t0001g0050 a0005c0006t0001g0244 a0005c0006t0003g0119 a0006c0008t0001g0370	282	386	0.7306	-282	c.88+ others(15): Show c.88+2488_88+2769del	TMEM156	ENSG00000121895.8	transcript	ENST00000381938.4	protein_coding	1/6			chr4	TogoVar
TOLLIP_chr11_1269371_1314632	1294621	CGTGGCTC others(275): Show CGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGG TGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(42): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG01256.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp1 HG02738.hp2 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG04228.hp1 NA18941.hp2 NA18947.hp2 NA18949.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18999.hp1 NA19004.hp1 NA19007.hp2 NA19054.hp1 NA19060.hp2 NA19064.hp2 NA19070.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0004c0006	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0007t0002 a0004c0006t0002	a0001c0001t0002g0165 a0001c0002t0001g0139 a0001c0002t0002g0010 others(41): Show a0001c0001t0002g0165 a0001c0002t0001g0139 a0001c0002t0002g0010 a0001c0002t0002g0085 a0001c0002t0002g0114 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0014g0324 a0001c0002t0014g0325 a0001c0007t0002g0151 a0004c0006t0002g0252	45	348	0.1293	-282	c.183 others(16): Show c.183+742_183+1023del	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294760	CGCGTGGC others(275): Show CGCGTGGCTCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGC GTGGCTCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTG GCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGGGTGGCT CACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCAC GGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGT GTGTCTCCTTTCCCTGCATTTCTACGAAAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0319 a0001c0001t0004g0319	1	348	0.0029	-282	c.183 others(15): Show c.183+603_183+884del	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TPO_chr2_1408463_1548673	1530770	CCCCCCAT others(275): Show CCCCCCATGGGGGGCAACGTCCTCAAATCCCCCGACTGTGTGCAACCTCC TGAAATCCCTTCACTGCGTGCAACCTCCCCAAATACCCCCACTGTGTGCA ACCTCCGCAAATCCCCCCACTGTGTGCAACCTCCCCAAATCCCCCCCACT CTGTGCGACCTCCCCAAATCCCCCCACTATGTGCGACCTCCTCAAATCCC CCCAGTATGTGCAACCTCCTCAAATCCCTCCACTCTGTGCAACCTCACCC TATCTTTCCCACTGTGTGCAACCCCCCCAAATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00733.hp2 others(3): Show HG00408.hp1 HG00558.hp2 HG00733.hp2 HG00738.hp1 HG02015.hp1 HG04184.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0010	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0006c0013 a0010c0010	a0001c0001t0007 a0001c0001t0010 a0002c0002t0007 others(3): Show a0001c0001t0007 a0001c0001t0010 a0002c0002t0007 a0004c0005t0007 a0006c0013t0007 a0010c0010t0007	a0001c0001t0007g0013 a0001c0001t0010g0054 a0002c0002t0007g0121 others(3): Show a0001c0001t0007g0013 a0001c0001t0010g0054 a0002c0002t0007g0121 a0004c0005t0007g0076 a0006c0013t0007g0122 a0010c0010t0007g0081	6	130	0.0462	-282	c.261 others(19): Show c.2619-9817_2619-9536del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TSNARE1_chr8_142207080_142408182	142283838	CAGAGGCA others(275): Show CAGAGGCAGGGTTAGTGTCTGTCAACGAGCAGAGGCAGGGACAGTGTCAA TGAACAGAGGCGGGGCCAGTGTCTGTCAGTGAGGGGAGCAGGGACCAGGT TCTGTCAATGAGCAGGGTGGGGGCCAGTGTCTGTCAAAGAGCAGAGTATG GAGCCAGTGTCTGTCGATGAGCAGGGTGAAGGCTAGTGTCTATCAATGAG CGGGTACCAGTGTCTGCCAATGAGCAGAGTGGGGGCTAGTGTCTGCCAAT GAGCAGAGGCGGGGCCAGTGTCTGTCAATGAGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00621.hp2 others(28): Show HG00438.hp2 HG00609.hp1 HG00621.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG02080.hp1 HG02129.hp2 HG02523.hp2 HG02602.hp1 HG03017.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 NA18612.hp1 NA18747.hp2 NA18947.hp2 NA18970.hp1 NA18979.hp1 NA19005.hp1 NA19085.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(28): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0003g0020 a0001c0001t0003g0068 a0002c0002t0001g0225 a0002c0002t0002g0217 a0003c0003t0001g0109	31	238	0.1303	-282	c.136 others(17): Show c.1363+293_1363+574del	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	11/13			chr8	TogoVar
TULP3_chr12_2885891_2946138	2941911	CACTGCAA others(275): Show CACTGCAACCTCTGCCTCCCAGGTTTCAGCAATTCTCCTGCCTCAGCCTC CTGAGAAGCTGGGACTACAGGCGTGCGCTACTACACCCAGCTAATTTTTG TATTTTAAGTGGAGAAGAGGTTTCACCATGTTGGCCACGCTGGTCTCGCC TTGGCCTCCAAAAGTGCCAGGATTACAGGCATGAGCCACTGCACCCGGCC TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTG CCAGGCTGGAGTGGAGTGGGGTGATATTGGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0138 a0002c0003t0005g0138	1	372	0.0027	-282	c.24 others(11): Show c.2468_*2749del	TULP3	ENSG00000078246.17	transcript	ENST00000448120.7	protein_coding		774		chr12	TogoVar
ZG16B_chr16_2825303_2837276	2833452	TGATCATC others(275): Show TGATCATCTAATGCAACAGCCAAACACCCAGTGATCATCTAATGCAACAG CCAAACAGACAAGTGATCATCTAATGCAACAGCCAAACAGACAAGTGATC ATCTAATGCAACAGCCAAACACCCAGTGATCATCTAATGCAACAGCCAAA CACCCAGTGATCATCTAATGCAACAGCCAAACAGACAAGTGATTATCTAA GGCAACAGCCAAACACCCAGCGATCATCTAATGCAACAGCCAAACACCCA GCGATCATCTAATGCAACAGCCAAACACCCAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01943.hp2 HG01975.hp1 others(43): Show HG00609.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18950.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18981.hp2 NA18986.hp1 NA18990.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19009.hp1 NA19011.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19087.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0012 others(8): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0002t0003g0004 a0001c0002t0003g0010	46	434	0.1060	-282	c.12 others(11): Show c.1294_*1575del	ZG16B	ENSG00000162078.12	transcript	ENST00000382280.8	protein_coding		1177		chr16	TogoVar
ZNF516_chr18_76352682_76500242	76394133	TGGGGGGA others(275): Show TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	346	0.0029	-282	c.181 others(21): Show c.1811-14112_1811-13831del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
BAIAP3_chr16_1328645_1354439	1339788	GCACACAG others(274): Show GCACACAGGCTGCAGGTGCACACAGACACACACACAGGCTGCAGGTGCAC ACAGACACACGCACACAGGCTGCAGGTGCACACAGACACACGCACACAGG CTGCAGGTGCACACAGACACGCACACAGGCTGCAGGTGCACACAGACACG CACACAGGCTGCAGGTGCACACAGACGCACGCACACACACAGGCTGCAGG TGCATACAGATGCACACGCACACAGGCTGCAGGTGCACACAGACACACGC ACACAGGCTGTAGGTGCACACAGACACGCACA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02559.hp2 HG02896.hp1 HG02897.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0037 a0001c0001 a0001c0002 a0001c0037	a0001c0001t0035 a0001c0002t0001 a0001c0037t0025 a0001c0001t0035 a0001c0002t0001 a0001c0037t0025	a0001c0001t0035g0026 a0001c0002t0001g0026 a0001c0037t0025g0136 a0001c0001t0035g0026 a0001c0002t0001g0026 a0001c0037t0025g0136	4	358	0.0112	-281	c.408 others(15): Show c.408+215_408+495del	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
C12orf75_chr12_105325691_105376518	105362216	CTCTACTA others(274): Show CTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTTGGA GAGCTCCTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGATTGA GACCATCCTGGCTAACATGGTGAAACCTCCTG	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	408	0.0025	-281	c.72- others(15): Show c.72-3561_72-3281del	C12orf75	ENSG00000235162.9	transcript	ENST00000443585.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAMKK1_chr17_3855315_3898053	3867988	CACCGTCT others(274): Show CACCGTCTAACTGATACGCGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAA CTGATACACAGGATCTGGGGGAGAAGCAGGCGCAGTCTAACTGATACGTG GGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGG GAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGG CGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAA CTGATACGTGGGCTCTGGGGGAGAAGCAGGCG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20752.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0220 a0001c0003t0001g0273 a0001c0002t0003g0220 a0001c0003t0001g0273	2	446	0.0045	-281	c.134 others(19): Show c.1341+1218_1341+1498del	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
COL6A1_chr21_45976770_46010048	45987980	CTCCAGAT others(274): Show CTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATG GAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGG GGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGG ACGGCGGGGTCCAGATGGAGGGGACGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	128	0.0078	-281	c.804 others(15): Show c.804+349_804+629del	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89587910	CCCCCGTG others(274): Show CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGT TACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATA CACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGG	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	348	0.0029	-281	c.928 others(15): Show c.928-760_928-480del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DDX51_chr12_132131594_132149319	132134686	CCCGAGTG others(274): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGC TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02886.hp1 HG02886.hp2 others(1): Show HG01496.hp1 HG02886.hp1 HG02886.hp2 HG03471.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0004 a0002c0002t0010 a0002c0002t0021 others(1): Show a0002c0002t0004 a0002c0002t0010 a0002c0002t0021 a0004c0004t0023	a0002c0002t0004g0004 a0002c0002t0010g0014 a0002c0002t0021g0048 others(1): Show a0002c0002t0004g0004 a0002c0002t0010g0014 a0002c0002t0021g0048 a0004c0004t0023g0080	4	334	0.0120	-281	c.43 others(11): Show c.4305_*4585del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1907		chr12	TogoVar
DOCK8_chr9_209865_470255	442597	ATGGAGAA others(274): Show ATGGAGAAAAAGAGAAACAGCCTAGAGAAAGGTCAGGACAAAAGAAACAC AGGTTATAAGGGCCAAACACTAAGAACTCAGTCAAAGGTGCCTCCCCGAT GGGATTTGGATGAACAGGAATTTGTTTACAAAGAGCCTGCAATTACCAAG CAGGACTGGGGTCCTTTGAACTGCTCACAATTAACCAAAGATTCACTCCT TAGGCTTTCATTGCTTTGAATTTGTGCCCTCCTATGAGTGTAAAACTTAA AACATTTGTGTTGCCTAATGGCTTCGTACACT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG01243.hp2 HG02109.hp1	a0001 a0002 a0001 a0002	a0001c0049 a0002c0096 a0001c0049 a0002c0096	a0001c0049t0013 a0002c0096t0001 a0001c0049t0013 a0002c0096t0001	a0001c0049t0013g0219 a0002c0096t0001g0010 a0001c0049t0013g0219 a0002c0096t0001g0010	2	256	0.0078	-281	c.549 others(17): Show c.5490+589_5491-549del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	42/47			chr9	TogoVar
FOXQ1_chr6_1307098_1319758	1319477	GCACGCCT others(274): Show GCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCT GAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCAC TACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAA GACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAA TTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0000 a0003c0002t0004g0000	1	406	0.0025	-281	c.55 others(11): Show c.5562_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4720		chr6	TogoVar
GALNS_chr16_88808734_88861947	88834296	ATGGTCTG others(274): Show ATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAG AGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCC CCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGG AAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCC CCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGTGG TCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18991.hp2 NA18985.hp1 NA18991.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0020 a0002c0003t0001 a0002c0003t0020	a0002c0003t0001g0311 a0002c0003t0020g0345 a0002c0003t0001g0311 a0002c0003t0020g0345	2	404	0.0050	-281	c.898 others(15): Show c.898+636_898+916del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13			chr16	TogoVar
GALNT9_chr12_132191372_132334589	132212519	CGACACGG others(274): Show CGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAA ACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCCG GGTCTAGCAGCCCTCAGACCTCGACACAGAAACCCCACCCGGGTCTGCAG CCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACC TCGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCGTGACATGGA AACCCCACCCGGGTCTGCAGCCCTCAGACCGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18747.hp1 NA18964.hp1 others(1): Show HG00609.hp1 NA18747.hp1 NA18964.hp1 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0033 a0001c0001 a0001c0002 a0003c0033	a0001c0001t0001 a0001c0002t0001 a0003c0033t0001 a0001c0001t0001 a0001c0002t0001 a0003c0033t0001	a0001c0001t0001g0035 a0001c0002t0001g0025 a0001c0002t0001g0135 others(1): Show a0001c0001t0001g0035 a0001c0002t0001g0025 a0001c0002t0001g0135 a0003c0033t0001g0114	4	183	0.0219	-281	c.107 others(19): Show c.1078-9110_1078-8830del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GMDS_chr6_1618806_2250605	1905631	CTGCATGT others(274): Show CTGCATGTGGGGCCAGCACATAGCTGTGGGTGCTGGCGTGTAGGTGGGGC CTCAAAGGTACCTGTGCATCTGCATGTGGGGCCAGCACATAGCTATGGGT GCTGGCGTGTAGGTGGGACCTCAAAGGTACCTGTGCATCTGCATGTGGGG CCAGCACATAGCTGTGGGTGCTGGCTTGTAGGTGGGACCTCAAAGGTACC TGTGCATCTGCATGTGGGGCCAGCACATAGCTGTGGGTGCTGGCATGTGA CAATAACCCCATAGGCCATCTGGGAACACGTA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp2 HG03098.hp1 others(4): Show HG02258.hp2 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0089 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0089 a0001c0001t0001g0160 a0001c0002t0001g0049 a0001c0002t0001g0094 a0001c0002t0001g0164	7	166	0.0422	-281	c.771 others(19): Show c.771+24191_771+24471del	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
KANK1_chr9_499695_751103	508544	GTGCCCCT others(274): Show GTGCCCCTATACTCTTGTCCAATCACTGCCCCTCCCGAAGAGTAACCGTT GTGCCAACTGTGGATTAGTTTTATCTGTTTTCATGCTCTACACAGACTCA CACGGTATATAGCTTTTAGTATCCTGGTTTCTTTCTCAACATTATATTTG TGAGATTCAGCTGTGTTGTTGCTTGTGGCTGTAGTTCAGTTATTTTCACT GCTGTGTAATATTCAATTGTATGACTACAATTTATCAATTTTTAGGTTTG AGGGGCATTTACATAGTTTCCAGTTTCTTACA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03139.hp2 NA19030.hp2 others(1): Show HG01361.hp2 HG03139.hp2 NA19030.hp2 NA19240.hp2	a0001 a0008 a0015 others(1): Show a0001 a0008 a0015 a0020	a0001c0001 a0008c0006 a0015c0021 others(1): Show a0001c0001 a0008c0006 a0015c0021 a0020c0026	a0001c0001t0003 a0008c0006t0002 a0015c0021t0006 others(1): Show a0001c0001t0003 a0008c0006t0002 a0015c0021t0006 a0020c0026t0001	a0001c0001t0003g0006 a0008c0006t0002g0071 a0015c0021t0006g0005 others(1): Show a0001c0001t0003g0006 a0008c0006t0002g0071 a0015c0021t0006g0005 a0020c0026t0001g0007	4	254	0.0158	-281	c.-84 others(17): Show c.-84+3793_-84+4073del	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNJ6_chr21_37602373_37921457	37756931	CCTCACAG others(274): Show CCTCACAGATTCCAGCCCAGAGTGAGCACTCCCTCACAGCATGATGGTTC CAGCCCAAGTGAGCACTCCCTCAAAGATTCGAGCCTGGAGTGAGCACTCC CTCATAGTGTGATGAGTCCAGCCCAGAGTGAGCACTCTCTCACAGTGTGA TGATTCCAGCCCGGAGTGAGCACTCCCTCACAGCGTGATGATTCCAGCCT GGAGTGAGCACTCCCTCACAGAATCCAGCTTGGAGTGAGCACTCCCTCAC AGTGTGATGGTACCAGCCTTGGTGAGCTGTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(12): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG01891.hp2 HG02129.hp2 HG03017.hp1 HG03041.hp1 HG03654.hp2 NA18612.hp1 NA18961.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0041 a0001c0001t0042 a0001c0001t0054 others(12): Show a0001c0001t0041 a0001c0001t0042 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059 a0001c0001t0070 a0001c0001t0099 a0001c0001t0123 a0001c0001t0165 a0001c0002t0005 a0001c0002t0146 a0001c0002t0151 a0001c0002t0155 a0001c0003t0135 a0001c0004t0154	a0001c0001t0041g0072 a0001c0001t0042g0108 a0001c0001t0054g0123 others(12): Show a0001c0001t0041g0072 a0001c0001t0042g0108 a0001c0001t0054g0123 a0001c0001t0055g0117 a0001c0001t0059g0178 a0001c0001t0070g0059 a0001c0001t0099g0051 a0001c0001t0123g0008 a0001c0001t0165g0095 a0001c0002t0005g0155 a0001c0002t0146g0192 a0001c0002t0151g0188 a0001c0002t0155g0089 a0001c0003t0135g0122 a0001c0004t0154g0190	15	198	0.0758	-281	c.26- others(17): Show c.26-42081_26-41801del	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
LHFPL3_chr7_104323603_104913561	104489067	TGTGCTGA others(274): Show TGTGCTGAAATCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGCT CCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(39): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01517.hp1 HG01884.hp1 HG02056.hp2 HG02074.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03516.hp1 HG03516.hp2 HG03831.hp1 HG03831.hp2 NA18612.hp1 NA18612.hp2 NA18947.hp1 NA18972.hp2 NA19030.hp2 NA19085.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0002t0005 a0001c0002t0007 a0001c0003t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(39): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0002g0001 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0003g0024 a0001c0001t0003g0029 a0001c0001t0003g0046 a0001c0001t0003g0053 a0001c0001t0003g0078 a0001c0001t0004g0030 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0004g0054 a0001c0001t0004g0075 a0001c0001t0004g0082 a0001c0001t0005g0020 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0007g0016 a0001c0001t0007g0066 a0001c0001t0008g0012 a0001c0001t0009g0002 a0001c0001t0009g0035 a0001c0001t0011g0057 a0001c0001t0011g0063 a0001c0001t0013g0049 a0001c0002t0005g0085 a0001c0002t0007g0009 a0001c0003t0002g0065	42	86	0.4884	-281	c.445 others(21): Show c.445+159857_445+160137del	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC27_chr10_132327193_132386508	132358595	CGTAGGGA others(274): Show CGTAGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGG AGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGA GGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGCAGCGTGGGGA GGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGT GGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGCTGGTGGAGC AGCGTAGGGAGGAGCCGAGGTGGTGGAGCAGT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02293.hp1 HG01993.hp1 HG02293.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0008 a0001c0003 a0003c0008	a0001c0003t0007 a0003c0008t0007 a0001c0003t0007 a0003c0008t0007	a0001c0003t0007g0079 a0003c0008t0007g0084 a0001c0003t0007g0079 a0003c0008t0007g0084	2	290	0.0069	-281	c.117 others(19): Show c.1170+2712_1171-2579del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAEA_chr4_1284891_1345137	1333841	TCACCCCC others(274): Show TCACCCCCCTGCCCACCCCCATGCCCGTGCTCACCTCTGCACCCACCCCA TGCCCACCCCCATGCCCACCTGTGCTCACCCCCATGCCCACTCCCGTGCC CATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCA CCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCA TGTGCTCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCACC CATCCCATGCCTACCGTGCTCACCCCCATGCC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03710.hp1 NA18951.hp2 HG02015.hp1 HG03710.hp1 NA18951.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0132 a0001c0001t0001g0228 a0004c0008t0001g0101 a0001c0001t0001g0132 a0001c0001t0001g0228 a0004c0008t0001g0101	3	388	0.0077	-281	c.765 others(16): Show c.765+983_765+1263del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYZAP_chr15_57586904_57690364	57687976	ATGTGTGT others(274): Show ATGTGTGTACAATATACACATATATAAATGTGTGTACAATATACACATAT ATAAATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACA CATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACA CATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACA CATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACA CATATATATGTGTGTACAATATACACATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	352	0.0028	-281	c.34 others(11): Show c.3479_*3759del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2613		chr15	TogoVar
NFATC1_chr18_79390930_79534323	79473850	ACTGTCAA others(274): Show ACTGTCAACGTTGTAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCG ACGTTGTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCT GAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTTT TCACACTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGC TGTCAACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTT GTAAACCTGAGGGAAGCGTGTTCTCACGCTCG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0009 a0001c0056t0009	a0001c0056t0009g0137 a0001c0056t0009g0137	1	322	0.0031	-281	c.209 others(19): Show c.2092+6274_2092+6554del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP4_chr19_55831540_55886855	55851248	TACGAGGC others(274): Show TACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTG CGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATG TCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTG CGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATG TCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTG CGGTGTAATGTCCGTGGCTGCGGTGTAATTTA	T T	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	424	0.0024	-281	c.-65 others(15): Show c.-65-767_-65-487del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NTN5_chr19_48656407_48678017	48669073	CTATCACC others(274): Show CTATCACCATCATCACCACCACCATCACCACTATCACCATCATCACCACC ACCACCATCATCATATCACCATCATCACCACCATCACCACCACCACCATC ACCACCATGACCACCATCATCACCACCATCACCATCACCACCACCACCAC CACGACCATCATCACCACCACCACCATCACCACCACCACGACCATCATCA CCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACC ATCACCACCACCACCATCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0130 a0008c0013t0002g0130	1	412	0.0024	-281	c.631 others(17): Show c.631+1002_631+1282del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
OR2T11_chr1_248618557_248640091	248637508	ATACAGAC others(274): Show ATACAGACAGACAGGCAGGACTCATGATCACAGGTTAACAATAGAGACAG GCAGGACTCAATCACGTGTTAGCAATACAGACAGGCAGGACCCATGATCA CACGTTAGCAATACAGACAGGCAGGACCCATGATCACACGTTAGCAATAC AGACAGGCAGGACTCATGGTCACACGTTAGCAATACAGACAGGCAGGACT CATGGTCACACATTAGCAATATAGACAGGAAGGACTCACGATCACACGTT AGCAATACAGACACAGAAGGACTCATCACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	314	0.0032	-281	c.-28 others(11): Show c.-2896_-2616del	OR2T11	ENSG00000279301.5	transcript	ENST00000641193.1	protein_coding		2418		chr1	TogoVar
SEMA3A_chr7_83950777_84199789	84099088	TGAGACGG others(274): Show TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGTGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00621.hp2 others(96): Show HG00099.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03453.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0012 a0001c0016 a0002c0006 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0002t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0003t0020 a0001c0003t0033 a0001c0004t0005 a0001c0004t0008 a0001c0004t0016 a0001c0005t0001 a0001c0005t0009 a0001c0007t0001 a0001c0008t0008 a0001c0008t0013 a0001c0012t0016 a0001c0016t0002 a0002c0006t0010 a0002c0009t0021	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0039 others(96): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0143 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0003g0023 a0001c0001t0003g0043 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0060 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0261 a0001c0001t0004g0059 a0001c0001t0007g0092 a0001c0001t0007g0111 a0001c0001t0007g0134 a0001c0001t0007g0158 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0192 a0001c0001t0007g0231 a0001c0001t0007g0236 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0011g0107 a0001c0001t0011g0195 a0001c0001t0017g0007 a0001c0001t0017g0263 a0001c0001t0018g0003 a0001c0001t0018g0121 a0001c0001t0026g0267 a0001c0001t0027g0272 a0001c0001t0029g0025 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0172 a0001c0002t0002g0262 a0001c0002t0002g0268 a0001c0003t0005g0252 a0001c0003t0006g0072 a0001c0003t0012g0174 a0001c0003t0012g0190 a0001c0003t0012g0232 a0001c0003t0020g0168 a0001c0003t0020g0170 a0001c0003t0033g0238 a0001c0004t0005g0048 a0001c0004t0008g0157 a0001c0004t0016g0009 a0001c0005t0001g0079 a0001c0005t0009g0249 a0001c0007t0001g0081 a0001c0008t0008g0085 a0001c0008t0013g0084 a0001c0012t0016g0207 a0001c0016t0002g0136 a0002c0006t0010g0004 a0002c0006t0010g0005 a0002c0006t0010g0056 a0002c0006t0010g0183 a0002c0006t0010g0199 a0002c0009t0021g0265 a0002c0009t0021g0266	99	276	0.3587	-281	c.453 others(19): Show c.453+11101_453+11381del	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SIGIRR_chr11_400716_419999	411597	GCGGGGGG others(274): Show GCGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCC AGCTCTGACCATGTCTGGATACAGTCGGTGGGGGTTGCCCAGCTCTGACC ATGTCTGGATACAGTCGGTGGGGGGGGGGGGTGCCCAGCTCTGACCATGT CTGGATGCAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAG TCGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGCGGGGGGG GGGCTCAGCTCTGACCATGTCTGGATACAGTC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03492.hp1 HG01069.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0097 a0001c0001t0001g0098	2	242	0.0083	-281	c.-15 others(19): Show c.-153-1851_-153-1571del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1071992	CCCCAGTG others(274): Show CCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0028 a0001c0006t0001g0028	1	118	0.0085	-281	c.224 others(19): Show c.2241+1360_2241+1640del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
STIM1_chr11_3850664_4098208	4079251	CCACTGCA others(274): Show CCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGGCTGGGCACGGT GGCTCATGTCTGTAAGTAATCCCAGCACTTTGGGAGGCCGAGGTGTGCAG ATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACGTAGTGAAACC CCGTCTCTACTAAAAATACAAGAATTAGCCAGGTGTGGTGGCAGGCACCT GTAATCACAGCTATTCGGGAGGCTCAGGCAGGAGAATCGCTTGAACCTGG GAGGCAGAAGTTGCAGTGAGCCGAGATCACAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	300	0.0033	-281	c.970 others(17): Show c.970-2896_970-2616del	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAFA5_chr22_48484553_48756932	48736164	AGTCCATA others(274): Show AGTCCATACCCCCCAGGAGGAATGAGAATCACACTCCTGGAGTCCAGAGT CCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCCTCCCCGCA GGAGGAATGAGAATCGCACTCCTAGAGTCCATCCCCCCAGGAGGAATGAG AATCGCACTCCTAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCC TAGAGTCCATCCCCCCAGGAGGAGTGAGAATCGCACTCCTAGAGTCCATC CCCCCAGGAGGAATGAGAATCGCACTCCTAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG04115.hp1 HG00280.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0248 a0001c0001t0010g0224 a0001c0001t0002g0248 a0001c0001t0010g0224	2	258	0.0078	-281	c.391 others(19): Show c.391-13668_391-13388del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TM4SF19_chr3_196318547_196343388	196334865	ACTGGGAG others(274): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGG TTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGG GTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGG TGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAA GGGAGGGGTGCACTGGGAGGGTGGGGGTAGGAGAGGGAAGGGATGCCCTG AGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp2 HG03209.hp1 others(1): Show HG02622.hp1 HG03041.hp2 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0127 a0001c0001t0001g0128	4	370	0.0108	-281	c.-2+ others(15): Show c.-2+3118_-2+3398del	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMCO3_chr13_113486021_113555229	113543132	ACCACCTC others(274): Show ACCACCTCCTCCCCGTGCCCCCCGCCCTACCTCTGTCCGGACCCCACCTC CTCCCCCTGCCCCTCGCCCTCCCTCTGTCCGTGACCACCTCCTCCCCCTG CGCCCCTACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCAC TCTGTCCGTGACCCCCACCTCCTCCCCCTGCCCCCGCCCTCCCTCTGTGG GTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCCCA CCTCCTCCCCCTGCCCTCCCTCTGTCCATGAC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03927.hp2 HG00673.hp2 HG03927.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0069 a0003c0002t0002g0070	2	368	0.0054	-281	c.169 others(19): Show c.1690+3628_1691-3885del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129310949	CAAAAAGG others(274): Show CAAAAAGGAACAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp1 HG01106.hp2 others(20): Show HG00408.hp2 HG01074.hp1 HG01106.hp2 HG01192.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02486.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03669.hp1 HG03834.hp2 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0003c0005 a0007c0012 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0002t0001 a0001c0002t0011 a0001c0002t0018 a0001c0004t0001 a0001c0007t0019 a0002c0003t0001 a0002c0003t0009 a0003c0005t0001 a0007c0012t0003 a0009c0008t0004	a0001c0001t0001g0059 a0001c0001t0002g0039 a0001c0001t0002g0058 others(20): Show a0001c0001t0001g0059 a0001c0001t0002g0039 a0001c0001t0002g0058 a0001c0001t0003g0050 a0001c0001t0005g0037 a0001c0001t0005g0042 a0001c0001t0005g0056 a0001c0001t0006g0051 a0001c0001t0007g0029 a0001c0001t0008g0092 a0001c0001t0012g0002 a0001c0002t0001g0010 a0001c0002t0001g0030 a0001c0002t0011g0001 a0001c0002t0018g0066 a0001c0004t0001g0046 a0001c0007t0019g0043 a0002c0003t0001g0031 a0002c0003t0001g0061 a0002c0003t0009g0022 a0003c0005t0001g0069 a0007c0012t0003g0045 a0009c0008t0004g0047	23	94	0.2447	-281	c.129 others(21): Show c.1299+26404_1299+26684del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
VCX3A_chrX_6528618_6540118	6532732	CCACACAC others(274): Show CCACACACCACCTATTCCTTCCTTCTTTCCTTTCTCCCTCCCCACACACC TCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCAC ACACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCTCTTCCTCCCTCCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	74	0.0135	-281	c.73 others(10): Show c.732_*1012del	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		885		chrX	TogoVar
XPR1_chr1_180627022_180895279	180869406	GTACCTCT others(274): Show GTACCTCTGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTT TGGTTGGTAAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGT CTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGAGTATGT GTCGAGGAATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGA GGTGTTTGTAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTG GTGATATCCCCTTTATCATTTTTTATTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0260 a0001c0001t0002g0245 a0001c0001t0002g0260	2	330	0.0061	-281	c.166 others(19): Show c.1669-4394_1669-4114del	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF516_chr18_76352682_76500242	76392974	GGGGAAGG others(274): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0082 a0001c0001t0046g0082	1	346	0.0029	-281	c.181 others(21): Show c.1811-12952_1811-12672del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393002	GGGCAGGT others(274): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0153 a0001c0001t0153	a0001c0001t0153g0061 a0001c0001t0153g0061	1	346	0.0029	-281	c.181 others(21): Show c.1811-12980_1811-12700del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394090	CGGGAAGG others(274): Show CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19009.hp1 NA19065.hp1 NA18973.hp2 NA19009.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0324 a0001c0001t0003g0249 a0001c0001t0005g0288 a0001c0001t0001g0324 a0001c0001t0003g0249 a0001c0001t0005g0288	3	346	0.0087	-281	c.181 others(21): Show c.1811-14068_1811-13788del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394122	GGGTGGTC others(274): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCA	G G	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0156 a0001c0001t0156	a0001c0001t0156g0304 a0001c0001t0156g0304	1	346	0.0029	-281	c.181 others(21): Show c.1811-14100_1811-13820del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394399	GGGCAGGT others(274): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0170 a0002c0003t0170	a0002c0003t0170g0109 a0002c0003t0170g0109	1	346	0.0029	-281	c.181 others(21): Show c.1811-14377_1811-14097del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394449	AGGTGGTC others(274): Show AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03130.hp1 others(1): Show HG01257.hp1 HG01258.hp2 HG03130.hp1 NA19011.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0012 a0008c0020 a0001c0001 a0001c0012 a0008c0020	a0001c0001t0041 a0001c0012t0206 a0008c0020t0050 a0001c0001t0041 a0001c0012t0206 a0008c0020t0050	a0001c0001t0041g0149 a0001c0012t0206g0118 a0008c0020t0050g0005 others(1): Show a0001c0001t0041g0149 a0001c0012t0206g0118 a0008c0020t0050g0005 a0008c0020t0050g0007	4	346	0.0116	-281	c.181 others(21): Show c.1811-14427_1811-14147del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF732_chr4_265675_310474	270168	TAAGAATT others(274): Show TAAGAATTCTCCCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(102): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18957.hp2 NA18960.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18986.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19080.hp1 NA19089.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0006 a0007 a0009 a0013 a0014	a0002c0002 a0003c0004 a0004c0003 others(5): Show a0002c0002 a0003c0004 a0004c0003 a0006c0008 a0007c0009 a0009c0016 a0013c0011 a0014c0010	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0011 a0003c0004t0001 a0004c0003t0003 a0006c0008t0001 a0007c0009t0001 a0009c0016t0010 a0013c0011t0003 a0014c0010t0003	a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 others(91): Show a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0250 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0006g0258 a0002c0002t0006g0259 a0002c0002t0011g0295 a0003c0004t0001g0015 a0003c0004t0001g0016 a0003c0004t0001g0099 a0003c0004t0001g0246 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0001g0249 a0004c0003t0003g0007 a0004c0003t0003g0021 a0004c0003t0003g0024 a0004c0003t0003g0025 a0004c0003t0003g0027 a0004c0003t0003g0028 a0004c0003t0003g0029 a0004c0003t0003g0051 a0006c0008t0001g0057 a0006c0008t0001g0058 a0007c0009t0001g0009 a0009c0016t0010g0261 a0013c0011t0003g0026 a0014c0010t0003g0047	105	326	0.3221	-281	c.65 others(9): Show c.650_*930del	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding		506		chr4	TogoVar
AGAP1_chr2_235489043_236136793	235525896	TACATAAT others(273): Show TACATAATGTGGAGGACTGATTTATAAAGTAGAGGACTGATTTATAAAGT AGAGGACTGACACATAATGTGGAGGACTGATTTATAAAGTAGAGGACTGA TGCATAATGTGGAGGACTGATACATAATGTGGAGGACTGATACATAATGT GGAGGACTGATACATAATGTGGAGGACTGATTTATAAAGTAGAGGACTGA TTTATAAAGTAGAGGACTGACACATAATGTGGAGGACTGATTTATAAAGT AGAGGACTGATTTATAAAGTAGAGGACTGAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01928.hp2 HG02080.hp2 others(14): Show HG00438.hp1 HG01928.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0017 a0002c0007	a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 others(13): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 a0001c0001t0048 a0001c0002t0001 a0001c0002t0006 a0001c0002t0043 a0001c0003t0009 a0001c0003t0022 a0001c0005t0004 a0001c0009t0015 a0001c0009t0017 a0001c0017t0008 a0002c0007t0005 a0002c0007t0008	a0001c0001t0005g0012 a0001c0001t0008g0069 a0001c0001t0011g0098 others(14): Show a0001c0001t0005g0012 a0001c0001t0008g0069 a0001c0001t0011g0098 a0001c0001t0026g0095 a0001c0001t0048g0054 a0001c0002t0001g0068 a0001c0002t0006g0093 a0001c0002t0043g0064 a0001c0003t0009g0096 a0001c0003t0022g0055 a0001c0005t0004g0088 a0001c0005t0004g0097 a0001c0009t0015g0038 a0001c0009t0017g0037 a0001c0017t0008g0092 a0002c0007t0005g0094 a0002c0007t0008g0011	17	98	0.1735	-280	c.163 others(19): Show c.163+31094_163+31373del	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406031	GTGTCACT others(273): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02257.hp1 HG02280.hp1 others(5): Show HG00738.hp1 HG02257.hp1 HG02280.hp1 HG02717.hp2 HG03834.hp1 NA18612.hp1 NA19079.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 others(1): Show a0001c0002 a0001c0004 a0002c0001 a0002c0005	a0001c0002t0002 a0001c0004t0005 a0002c0001t0001 others(1): Show a0001c0002t0002 a0001c0004t0005 a0002c0001t0001 a0002c0005t0001	a0001c0002t0002g0134 a0001c0002t0002g0198 a0001c0004t0005g0035 others(5): Show a0001c0002t0002g0134 a0001c0002t0002g0198 a0001c0004t0005g0035 a0001c0004t0005g0194 a0001c0004t0005g0195 a0002c0001t0001g0078 a0002c0001t0001g0117 a0002c0005t0001g0101	8	210	0.0381	-280	c.27 others(11): Show c.2705_*2984del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		354		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406060	CGTCTTCC others(273): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	210	0.0048	-280	c.27 others(11): Show c.2734_*3013del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		383		chr2	TogoVar

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