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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NIP7_chr16_69334772_69348106	69344489	GTGGCCGG others(254): Show GTGGCCGGGTGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCC GAGACGGGCGGATTACCTGAGATCAGGAGTTTAAGATCAGCCTGGCCAAC ATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGT GGCACACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTG CTTGAGCCCGGGAGGCAGAGGTTGCAGGGAGCTGAGATCGTGCCACTGTA CTCCAGCCTGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0002 a0001c0001t0014g0002	1	400	0.0025	-261	c.28 others(11): Show c.2838_*3098del		NIP7	ENSG00000132603.15	transcript	ENST00000254940.10	protein_coding					1384		chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136533082	TGTGGACC others(254): Show TGTGGACCCTGGACACTCAGCCCCGCCCGGCCTCCCCACCTGGCTCTCCG TCAGACAGGAATGAGGCCAGCCTCCTTCTGACCACTGAAGGGGAAGTAGG AGGGGCCACCCAGGGGCTGCACCCCGGGAGCTGGGACCAACCCAGGTCCC TCTATAAGGATGGAGAGTGGAGGCCCAAGGGGGGGACTCTGGCCCAGCCC CCTCCGCGCACCAGCCAGTGCCCAGCCTGAGCTCAAGCATCTCTTACTGA AAAGCCGTCAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(192): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0016 a0017 a0019 a0020 a0024 a0026	a0001c0001 a0001c0002 a0001c0003 others(44): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0001c0031 a0001c0035 a0001c0036 a0001c0040 a0001c0043 a0001c0044 a0001c0048 a0001c0053 a0001c0058 a0001c0063 a0002c0010 a0003c0015 a0004c0021 a0006c0050 a0007c0022 a0008c0030 a0009c0057 a0010c0056 a0011c0051 a0014c0033 a0016c0038 a0017c0045 a0019c0039 a0020c0046 a0024c0049 a0026c0070	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(80): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0030 a0001c0004t0003 a0001c0004t0005 a0001c0004t0009 a0001c0004t0010 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0008 a0001c0006t0001 a0001c0006t0002 a0001c0007t0005 a0001c0007t0009 a0001c0007t0010 a0001c0008t0001 a0001c0008t0003 a0001c0008t0007 a0001c0008t0009 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0013t0003 a0001c0013t0004 a0001c0013t0031 a0001c0014t0001 a0001c0016t0004 a0001c0016t0012 a0001c0016t0020 a0001c0017t0003 a0001c0018t0001 a0001c0018t0008 a0001c0019t0008 a0001c0024t0001 a0001c0024t0003 a0001c0025t0016 a0001c0026t0015 a0001c0028t0001 a0001c0031t0001 a0001c0035t0001 a0001c0036t0009 a0001c0040t0026 a0001c0043t0001 a0001c0044t0008 a0001c0048t0001 a0001c0053t0004 a0001c0058t0021 a0001c0063t0010 a0002c0010t0001 a0002c0010t0002 a0003c0015t0001 a0004c0021t0003 a0006c0050t0023 a0007c0022t0008 a0008c0030t0014 a0009c0057t0029 a0010c0056t0002 a0011c0051t0001 a0014c0033t0003 a0016c0038t0001 a0017c0045t0003 a0019c0039t0001 a0020c0046t0018 a0024c0049t0001 a0026c0070t0004	a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0201 others(190): Show a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0315 a0001c0001t0002g0133 a0001c0001t0003g0003 a0001c0001t0003g0185 a0001c0001t0003g0189 a0001c0001t0003g0211 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0247 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0282 a0001c0001t0003g0296 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0004g0157 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0007g0180 a0001c0001t0007g0197 a0001c0001t0007g0212 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0221 a0001c0001t0007g0227 a0001c0001t0007g0239 a0001c0001t0007g0262 a0001c0001t0007g0274 a0001c0001t0007g0290 a0001c0001t0007g0301 a0001c0001t0007g0306 a0001c0001t0009g0272 a0001c0001t0011g0117 a0001c0001t0011g0132 a0001c0001t0011g0153 a0001c0001t0012g0001 a0001c0001t0019g0005 a0001c0001t0024g0170 a0001c0001t0032g0194 a0001c0001t0033g0307 a0001c0001t0034g0321 a0001c0002t0010g0250 a0001c0002t0010g0302 a0001c0003t0001g0184 a0001c0003t0001g0200 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0209 a0001c0003t0001g0249 a0001c0003t0001g0280 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0002g0046 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0003g0319 a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0003t0008g0011 a0001c0003t0008g0012 a0001c0003t0008g0013 a0001c0003t0030g0283 a0001c0004t0003g0275 a0001c0004t0003g0316 a0001c0004t0003g0317 a0001c0004t0005g0155 a0001c0004t0005g0156 a0001c0004t0009g0244 a0001c0004t0009g0245 a0001c0004t0010g0196 a0001c0005t0001g0208 a0001c0005t0001g0273 a0001c0005t0001g0289 a0001c0005t0002g0036 a0001c0005t0003g0314 a0001c0005t0008g0006 a0001c0005t0008g0021 a0001c0005t0008g0023 a0001c0005t0008g0025 a0001c0005t0008g0026 a0001c0006t0001g0210 a0001c0006t0001g0281 a0001c0006t0002g0122 a0001c0007t0005g0151 a0001c0007t0009g0246 a0001c0007t0009g0310 a0001c0007t0010g0236 a0001c0007t0010g0278 a0001c0007t0010g0279 a0001c0007t0010g0286 a0001c0008t0001g0248 a0001c0008t0001g0292 a0001c0008t0001g0293 a0001c0008t0003g0234 a0001c0008t0003g0313 a0001c0008t0007g0277 a0001c0008t0009g0195 a0001c0008t0009g0318 a0001c0009t0001g0294 a0001c0009t0001g0295 a0001c0011t0001g0260 a0001c0011t0001g0261 a0001c0011t0001g0264 a0001c0011t0001g0266 a0001c0011t0001g0284 a0001c0011t0001g0285 a0001c0012t0001g0263 a0001c0013t0001g0231 a0001c0013t0003g0223 a0001c0013t0003g0226 a0001c0013t0004g0154 a0001c0013t0031g0238 a0001c0014t0001g0255 a0001c0016t0004g0039 a0001c0016t0012g0015 a0001c0016t0012g0018 a0001c0016t0020g0016 a0001c0017t0003g0188 a0001c0018t0001g0193 a0001c0018t0001g0271 a0001c0018t0008g0024 a0001c0019t0008g0004 a0001c0024t0001g0224 a0001c0024t0003g0192 a0001c0025t0016g0169 a0001c0026t0015g0014 a0001c0026t0015g0019 a0001c0028t0001g0202 a0001c0031t0001g0276 a0001c0035t0001g0199 a0001c0036t0009g0298 a0001c0040t0026g0058 a0001c0043t0001g0198 a0001c0044t0008g0022 a0001c0048t0001g0233 a0001c0053t0004g0176 a0001c0058t0021g0017 a0001c0063t0010g0268 a0002c0010t0001g0187 a0002c0010t0002g0152 a0002c0010t0002g0158 a0002c0010t0002g0159 a0002c0010t0002g0160 a0002c0010t0002g0161 a0002c0010t0002g0162 a0003c0015t0001g0190 a0003c0015t0001g0191 a0003c0015t0001g0265 a0003c0015t0001g0297 a0004c0021t0003g0206 a0006c0050t0023g0134 a0007c0022t0008g0009 a0007c0022t0008g0010 a0008c0030t0014g0172 a0008c0030t0014g0173 a0009c0057t0029g0179 a0010c0056t0002g0148 a0011c0051t0001g0269 a0014c0033t0003g0258 a0016c0038t0001g0207 a0017c0045t0003g0309 a0019c0039t0001g0259 a0020c0046t0018g0020 a0024c0049t0001g0203 a0026c0070t0004g0171	195	324	0.6019	-261	c.141 others(17): Show c.141-9364_141-9104del		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NWD2_chr4_37239743_37454463	37435526	CTCTTCAC others(254): Show CTCTTCACCTTTATCAAAGACAGAACAACCCTGTTCCTTCAAGAGCTGTC TTAGAAAAAAGTACCTGGAGTGAAGCTTTCCTATTATTTATGTAAAAAAC ACCAGTCTGGGGAAGTCATCCTCTTATTTACAATCGCACAGCTCCAGTGT TTGGTTATTTCCCTGGCAAACACTTGTCCTAGCTTTCCCCACACAGTGAA GAACTGTGTCCACATAGATAGCCATGTGAAGATGAGAAATTTCATGTGAG CCACTACAAGTG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	296	0.0034	-261	c.706 others(17): Show c.706+1507_706+1767del		NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	5/6						chr4	TogoVar
OTUD7A_chr15_31470398_31875673	31511479	CATATATG others(254): Show CATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACACATATATGTATATCTATATGTAACACACACATATATGTATAT CTATATGTAACACACACATATATGTATATCTATATGTAACACACACATAT ATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACAC ACACATATATGTATATCTATATGTAACACACATATATATGTATATCTATA TGTAACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG01884.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0064 a0001c0002t0001g0066	2	244	0.0082	-261	c.894 others(17): Show c.894-7922_894-7662del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PEX5_chr12_7184686_7216459	7196762	ATAATTAT others(254): Show ATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATAATG TAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATAT AATGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCAC ATATAATGTAATAATTATATGTCACATATAATGTAATAATTATATGTCAC ATATAATGTAATAATTATATATGTCACATATAATGTAATAATTATATATG TCACATATAATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	428	0.0023	-261	c.449 others(17): Show c.449-2220_449-1960del		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2123789	TGGTTAGG others(254): Show TGGTTAGGGTTGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTG GTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGC GGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGTGGTTAGGGTCA CGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGG GTCGTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAG GGTCACGGCGGC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	286	0.0035	-261	c.335 others(19): Show c.335-11463_335-11203del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
RADIL_chr7_4792055_4888716	4802891	CCCCCTCC others(254): Show CCCCCTCCCCGGGCACCTCGGGGAATGCTGGCTGGGTCCCCTCCCCGGGC ACCTCGGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGTACCTCGGGGCA CTCTGGCTGGGCCCCCTCCCCGGGCACCTCAGGGCACGCTGGCTGGGGGG CCCCCTCCCCGGGTACCTCGGGGCACGCTGGCTGGGTCCCCTCCCCGGGC ACCTCGGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGTACCTCGGGGCA CTCTGGCTGGGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01261.hp1 HG02615.hp2 others(29): Show HG00597.hp2 HG01261.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp1 NA18522.hp2 NA18940.hp1 NA18951.hp1 NA18962.hp1 NA18969.hp1 NA19003.hp2 NA19057.hp1 NA19066.hp2 NA19085.hp1 NA20129.hp1 NA20300.hp2	a0003 a0004 a0009 others(3): Show a0003 a0004 a0009 a0015 a0017 a0023	a0003c0024 a0003c0025 a0003c0026 others(6): Show a0003c0024 a0003c0025 a0003c0026 a0004c0004 a0004c0020 a0009c0012 a0015c0027 a0017c0061 a0023c0053	a0003c0024t0035 a0003c0024t0054 a0003c0025t0018 others(14): Show a0003c0024t0035 a0003c0024t0054 a0003c0025t0018 a0003c0025t0030 a0003c0026t0021 a0004c0004t0003 a0004c0004t0006 a0004c0004t0041 a0004c0004t0059 a0004c0020t0003 a0004c0020t0051 a0009c0012t0003 a0009c0012t0006 a0009c0012t0012 a0015c0027t0025 a0017c0061t0032 a0023c0053t0061	a0003c0024t0035g0085 a0003c0024t0054g0161 a0003c0025t0018g0003 others(29): Show a0003c0024t0035g0085 a0003c0024t0054g0161 a0003c0025t0018g0003 a0003c0025t0030g0015 a0003c0026t0021g0122 a0003c0026t0021g0123 a0004c0004t0003g0166 a0004c0004t0003g0175 a0004c0004t0003g0176 a0004c0004t0003g0189 a0004c0004t0003g0223 a0004c0004t0003g0238 a0004c0004t0003g0258 a0004c0004t0003g0259 a0004c0004t0006g0006 a0004c0004t0006g0008 a0004c0004t0006g0018 a0004c0004t0006g0022 a0004c0004t0006g0049 a0004c0004t0041g0012 a0004c0004t0059g0201 a0004c0020t0003g0226 a0004c0020t0051g0233 a0009c0012t0003g0196 a0009c0012t0006g0032 a0009c0012t0012g0021 a0009c0012t0012g0066 a0009c0012t0012g0111 a0015c0027t0025g0130 a0015c0027t0025g0131 a0017c0061t0032g0083 a0023c0053t0061g0192	32	292	0.1096	-261	c.249 others(17): Show c.2499+394_2499+654del		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14						chr7	TogoVar
RPH3AL_chr17_207389_357807	233839	CCCCTGAC others(254): Show CCCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTCCCCTGACCAACT TTCCCCCAAGCGGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAG GGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTT ACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAACT TCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGG AGCGGCTACTTA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp1 HG00140.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0016 a0001c0001t0020	a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0001t0016g0093 a0001c0001t0020g0127	2	133	0.0150	-261	c.613 others(19): Show c.613+13011_613+13271del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPUSD3_chr3_9832849_9849008	9836733	AGGAGGGT others(254): Show AGGAGGGTTGCTTGAGTCCAGGAGTTGGAGGGTAGCCTGCTTGGGCAACA TACTGAGACCCTGCTTTAAAAACAGAGATTCAAAAACAAAACAACAACAA AAACATTAGCCAGGTGTGGCGGCACGTGCCTGTAATCCCAGCAGGAGAAT CGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGTAGAGCTCACACCACTG CACTCCAGCCTGGGAAACAGAGTGAGACTCTGTCTCAAAAAAAAGATAAG GAGGCTGAAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	452	0.0022	-261	c.10 others(11): Show c.1022_*1282del		RPUSD3	ENSG00000156990.14	transcript	ENST00000383820.10	protein_coding					1115		chr3	TogoVar
RPUSD3_chr3_9832849_9849008	9836749	TCCAGGAG others(254): Show TCCAGGAGTTGGAGGGTAGCCTGCTTGGGCAACATACTGAGACCCTGCTT TAAAAACAGAGATTCAAAAACAAAACAACAACAAAAACATTAGCCAGGTG TGGCGGCACGTGCCTGTAATCCCAGCAGGAGAATCGCTTGAACCTAGGAG GCAGAGGTTGCAGTGAGTAGAGCTCACACCACTGCACTCCAGCCTGGGAA ACAGAGTGAGACTCTGTCTCAAAAAAAAGATAAGGAGGCTGAAGCGGGAG GGTTGCTTGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 NA18943.hp2 HG02027.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	452	0.0044	-261	c.10 others(11): Show c.1006_*1266del		RPUSD3	ENSG00000156990.14	transcript	ENST00000383820.10	protein_coding					1099		chr3	TogoVar
RYR1_chr19_38428691_38592564	38540540	CAGTGTAA others(254): Show CAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAATCTCCAATC ATATACTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAAC CTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATACTACAGTG TAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATA CTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCA ATCATATACTAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01934.hp1 HG02056.hp1 others(6): Show HG00609.hp1 HG01934.hp1 HG02056.hp1 HG02083.hp2 NA18964.hp1 NA18983.hp2 NA19057.hp2 NA19068.hp2 NA20905.hp1	a0003 a0011 a0003 a0011	a0003c0006 a0003c0050 a0003c0051 others(3): Show a0003c0006 a0003c0050 a0003c0051 a0003c0064 a0003c0093 a0011c0121	a0003c0006t0001 a0003c0050t0003 a0003c0051t0003 others(3): Show a0003c0006t0001 a0003c0050t0003 a0003c0051t0003 a0003c0064t0001 a0003c0093t0001 a0011c0121t0001	a0003c0006t0001g0045 a0003c0006t0001g0057 a0003c0006t0001g0191 others(6): Show a0003c0006t0001g0045 a0003c0006t0001g0057 a0003c0006t0001g0191 a0003c0006t0001g0193 a0003c0050t0003g0035 a0003c0051t0003g0036 a0003c0064t0001g0181 a0003c0093t0001g0078 a0011c0121t0001g0086	9	218	0.0413	-261	c.116 others(21): Show c.11689+2621_11690-2506del		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC6A18_chr5_1220381_1251189	1238381	CCTCAGGA others(254): Show CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCAGGGGC CTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGAGCCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GAGCCTGGAGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp2 others(43): Show HG00099.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02080.hp2 HG02523.hp1 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03490.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG04184.hp1 NA18939.hp1 NA18940.hp2 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18985.hp2 NA19002.hp2 NA19007.hp2 NA19043.hp2 NA19085.hp2 NA19089.hp2 NA20805.hp1 NA20805.hp2	a0003 a0005 a0012 a0003 a0005 a0012	a0003c0004 a0005c0006 a0012c0017 a0003c0004 a0005c0006 a0012c0017	a0003c0004t0001 a0005c0006t0003 a0005c0006t0004 others(2): Show a0003c0004t0001 a0005c0006t0003 a0005c0006t0004 a0012c0017t0003 a0012c0017t0004	a0003c0004t0001g0041 a0003c0004t0001g0044 a0003c0004t0001g0083 others(36): Show a0003c0004t0001g0041 a0003c0004t0001g0044 a0003c0004t0001g0083 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0093 a0003c0004t0001g0106 a0003c0004t0001g0122 a0003c0004t0001g0155 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0001g0337 a0003c0004t0001g0346 a0003c0004t0001g0366 a0003c0004t0001g0370 a0003c0004t0001g0371 a0003c0004t0001g0372 a0003c0004t0001g0373 a0003c0004t0001g0380 a0003c0004t0001g0381 a0003c0004t0001g0387 a0005c0006t0003g0009 a0005c0006t0003g0033 a0005c0006t0003g0034 a0005c0006t0003g0035 a0005c0006t0003g0249 a0005c0006t0003g0250 a0005c0006t0003g0258 a0005c0006t0003g0260 a0005c0006t0003g0262 a0005c0006t0003g0263 a0005c0006t0003g0265 a0005c0006t0003g0266 a0005c0006t0003g0267 a0005c0006t0004g0251 a0005c0006t0004g0252 a0012c0017t0003g0191 a0012c0017t0003g0247 a0012c0017t0004g0198	46	456	0.1009	-261	c.732 others(15): Show c.732+356_732+616del		SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC7A3_chrX_70920579_70936096	70921203	AAAGAGTC others(254): Show AAAGAGTCTCACTGGAACCTACCTTTTCTGCCTTATTTTTCCACTTCATC CCTTCAAAATCCTAGGCTCCAGGCAAGATGAATTATAAGCTTTCCCATCT TTTTGCCTTTGTACACAAGATTCCATCCTCCTGGATGCTGTCACTCCAAT TCACTAAATTACACATTTTACCTATTCTTTAAGCTTTAGCTTAAAAGCCT TGACCTCTGTGAAGCCTTCCCAGAACTACTTGCAAGAACTCCGTCATGTG AATTCTCATGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	312	0.0032	-261	c.43 others(11): Show c.4349_*4609del		SLC7A3	ENSG00000165349.12	transcript	ENST00000374299.8	protein_coding					4375		chrX	TogoVar
ST6GAL1_chr3_186925526_187083553	187065571	AAGAAGGT others(254): Show AAGAAGGTTTCTGTGAGACTCAACTCAGTACCTCCTGTACCCTGTGGGCC TGAGAGAGGAGACAATGGGACAAGAAGACCCAGTGGCTTCCTTGGAAGCT TTTGTGCTAGCTGGAGAGAGAAGACCTACTTCCTATATGCCTAGCAACAG TCCACACTGACTGGACTGCAACCAGGACATTTCCAGATTACTCAGTGGGG CTTATCTTGAAATAATAGTTGATGCCATTTGTTAAATATATTATATATAC CATCTAAGGGTC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	362	0.0028	-261	c.706 others(17): Show c.706-7277_706-7017del		ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	5/7						chr3	TogoVar
TERT_chr5_1248167_1300068	1273438	ACACATCA others(254): Show ACACATCAGACCCCTGTGACCGATCGCCATCCACAGTCACCACACATCAG ACCCCCGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC CGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0375 a0001c0001t0002g0375	1	392	0.0026	-261	c.228 others(19): Show c.2287-1419_2287-1159del		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TMC1_chr9_72516608_72843297	72840224	ACCCCCCC others(254): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGACCGGGCGGGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCAGGCAGAGGCACCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCAG GGGGCTGACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01496.hp2 HG01952.hp2 others(3): Show HG01261.hp2 HG01496.hp2 HG01952.hp2 HG01978.hp1 HG02074.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0144 others(3): Show a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0159	6	182	0.0330	-261	c.42 others(11): Show c.4252_*4512del		TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding					1928		chr9	TogoVar
TMED6_chr16_69338250_69356786	69344489	GTGGCCGG others(254): Show GTGGCCGGGTGCAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCC GAGACGGGCGGATTACCTGAGATCAGGAGTTTAAGATCAGCCTGGCCAAC ATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGT GGCACACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTG CTTGAGCCCGGGAGGCAGAGGTTGCAGGGAGCTGAGATCGTGCCACTGTA CTCCAGCCTGGC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	410	0.0024	-261	c.490 others(16): Show c.490-1110_490-850del		TMED6	ENSG00000157315.5	transcript	ENST00000288025.4	protein_coding	3/3						chr16	TogoVar
TPSB2_chr16_1223336_1235184	1231286	ACCCCCAG others(254): Show ACCCCCAGCCCCAGCCCAGCTCCCCATGGACTAGTCCCATCCCCCGGCCC CAGCTCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCTCCCCATGGTCTC ACCCCCAGCCCCAGCCCAGCTCCCCATGGACTCACCCCCAGCCCCAGCCC AGCTCCCCATGGACTAGTCCCAGCCCCCGGCCCCAGCTCCCCATGGTCTC ACCCCCAGCCCCAGCCCAGCTCCCCATGGTCTCACCCCCGGCCCCAGCTC CCTGTGGACTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02280.hp1 HG02559.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0021 a0005c0005t0005g0021	2	344	0.0058	-261	c.-13 others(11): Show c.-1386_-1126del		TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding					1103		chr16	TogoVar
TTLL3_chr3_9805262_9841365	9836733	AGGAGGGT others(254): Show AGGAGGGTTGCTTGAGTCCAGGAGTTGGAGGGTAGCCTGCTTGGGCAACA TACTGAGACCCTGCTTTAAAAACAGAGATTCAAAAACAAAACAACAACAA AAACATTAGCCAGGTGTGGCGGCACGTGCCTGTAATCCCAGCAGGAGAAT CGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGTAGAGCTCACACCACTG CACTCCAGCCTGGGAAACAGAGTGAGACTCTGTCTCAAAAAAAAGATAAG GAGGCTGAAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	400	0.0025	-261	c.12 others(11): Show c.1245_*1505del		TTLL3	ENSG00000214021.18	transcript	ENST00000685419.1	protein_coding					369		chr3	TogoVar
TTLL3_chr3_9805262_9841365	9836749	TCCAGGAG others(254): Show TCCAGGAGTTGGAGGGTAGCCTGCTTGGGCAACATACTGAGACCCTGCTT TAAAAACAGAGATTCAAAAACAAAACAACAACAAAAACATTAGCCAGGTG TGGCGGCACGTGCCTGTAATCCCAGCAGGAGAATCGCTTGAACCTAGGAG GCAGAGGTTGCAGTGAGTAGAGCTCACACCACTGCACTCCAGCCTGGGAA ACAGAGTGAGACTCTGTCTCAAAAAAAAGATAAGGAGGCTGAAGCGGGAG GGTTGCTTGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18943.hp2 HG02027.hp2 NA18943.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0004 a0010c0012t0004	a0010c0012t0004g0204 a0010c0012t0004g0205 a0010c0012t0004g0204 a0010c0012t0004g0205	2	400	0.0050	-261	c.12 others(11): Show c.1261_*1521del		TTLL3	ENSG00000214021.18	transcript	ENST00000685419.1	protein_coding					385		chr3	TogoVar
TUBGCP5_chr15_22994177_23044569	23040842	GGGGGGAC others(254): Show GGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTGGGGGGTATCATAA TCTGACCTGGCCAGAGATGCTGGGGGGACATCATAACCCCACCTGGCCAG AGGTGTTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCTGGGGGGC GGGGGGAACTTCTTAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCA TAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAACCCCACCTG GCCAGAGGTGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0252 a0001c0002t0002g0252	1	351	0.0029	-261	c.-15 others(11): Show c.-1560_-1300del		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					1274		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23040878	GGGGGGTA others(254): Show GGGGGGTATCATAATCTGACCTGGCCAGAGATGCTGGGGGGACATCATAA CCCCACCTGGCCAGAGGTGTTGTGGGGCCATCATAACCCCAGCTGGCCGG AGGTGCTGGGGGGCGGGGGGAACTTCTTAACCCCACCTGGCCAGAGGTGC TGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTT CATAACCCCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTG GCCAGAGGTGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	351	0.0029	-261	c.-15 others(11): Show c.-1596_-1336del		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					1310		chr15	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(254): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCACCCCCGTGCTTCA CGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACA GAGGACTTGGCTCCCTGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGG CGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTC CCCCACCCCGAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(38): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG02004.hp1 HG02109.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp1 NA18980.hp2 NA18983.hp1 NA19007.hp1 NA19064.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0010 others(2): Show a0002c0002 a0002c0007 a0002c0010 a0002c0015 a0002c0019	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0016 a0002c0002t0031 a0002c0002t0033 a0002c0002t0048 a0002c0002t0057 a0002c0002t0062 a0002c0007t0003 a0002c0007t0020 a0002c0007t0051 a0002c0010t0001 a0002c0015t0063 a0002c0019t0008	a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 others(38): Show a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0071 a0002c0002t0001g0122 a0002c0002t0001g0147 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0202 a0002c0002t0002g0023 a0002c0002t0002g0040 a0002c0002t0003g0041 a0002c0002t0008g0065 a0002c0002t0008g0085 a0002c0002t0011g0025 a0002c0002t0016g0153 a0002c0002t0031g0090 a0002c0002t0031g0207 a0002c0002t0033g0049 a0002c0002t0048g0066 a0002c0002t0057g0154 a0002c0002t0062g0086 a0002c0007t0003g0107 a0002c0007t0003g0111 a0002c0007t0003g0113 a0002c0007t0020g0072 a0002c0007t0051g0108 a0002c0010t0001g0177 a0002c0010t0001g0261 a0002c0015t0063g0002 a0002c0019t0008g0245	41	322	0.1273	-261	c.735 others(11): Show c.735-229_766del	p.Ser others(5): Show p.Ser246fs	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	6/15	779/5250	735/2202	245/733			chr16	TogoVar
UNKL_chr16_1358205_1419704	1397348	CACCCCCG others(254): Show CACCCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGG TGTCAGGAGGACACAGAGGACTTGGCTCCCTGCCCCCCACCCCCGTGCTT CACGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACA CAGAGGACTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAG GGCATGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGC TCCCCCACCCCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(87): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp1 NA18747.hp2 NA18940.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18970.hp1 NA18974.hp2 NA18980.hp1 NA18999.hp1 NA19002.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19065.hp2 NA19081.hp1 NA19087.hp1 NA20300.hp1 NA20805.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0012 a0014	a0001c0001 a0001c0004 a0001c0012 others(7): Show a0001c0001 a0001c0004 a0001c0012 a0001c0028 a0003c0005 a0004c0011 a0004c0031 a0007c0021 a0012c0024 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0049 a0001c0001t0060 a0001c0001t0066 a0001c0004t0001 a0001c0012t0006 a0001c0028t0003 a0003c0005t0003 a0004c0011t0002 a0004c0031t0002 a0007c0021t0047 a0012c0024t0035 a0014c0017t0003	a0001c0001t0001g0135 a0001c0001t0001g0220 a0001c0001t0002g0007 others(86): Show a0001c0001t0001g0135 a0001c0001t0001g0220 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0048 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0092 a0001c0001t0002g0106 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0247 a0001c0001t0002g0260 a0001c0001t0002g0270 a0001c0001t0002g0294 a0001c0001t0003g0017 a0001c0001t0003g0248 a0001c0001t0003g0256 a0001c0001t0003g0274 a0001c0001t0003g0292 a0001c0001t0004g0079 a0001c0001t0004g0169 a0001c0001t0004g0287 a0001c0001t0005g0070 a0001c0001t0005g0098 a0001c0001t0005g0171 a0001c0001t0005g0175 a0001c0001t0005g0224 a0001c0001t0005g0228 a0001c0001t0005g0230 a0001c0001t0005g0232 a0001c0001t0005g0296 a0001c0001t0006g0001 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0223 a0001c0001t0006g0251 a0001c0001t0006g0257 a0001c0001t0007g0203 a0001c0001t0009g0222 a0001c0001t0009g0231 a0001c0001t0009g0233 a0001c0001t0009g0243 a0001c0001t0009g0259 a0001c0001t0010g0180 a0001c0001t0011g0258 a0001c0001t0011g0267 a0001c0001t0011g0293 a0001c0001t0013g0019 a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0014g0286 a0001c0001t0014g0288 a0001c0001t0014g0289 a0001c0001t0014g0290 a0001c0001t0018g0255 a0001c0001t0018g0273 a0001c0001t0034g0110 a0001c0001t0039g0234 a0001c0001t0040g0101 a0001c0001t0041g0205 a0001c0001t0049g0094 a0001c0001t0060g0242 a0001c0001t0066g0209 a0001c0004t0001g0080 a0001c0012t0006g0093 a0001c0012t0006g0095 a0001c0028t0003g0206 a0003c0005t0003g0178 a0003c0005t0003g0200 a0003c0005t0003g0210 a0003c0005t0003g0211 a0003c0005t0003g0212 a0004c0011t0002g0077 a0004c0011t0002g0184 a0004c0031t0002g0312 a0007c0021t0047g0112 a0012c0024t0035g0074 a0014c0017t0003g0192	90	322	0.2795	-261	c.735 others(14): Show c.735-314_735-54del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1397405	AGGACACA others(254): Show AGGACACAGAGGACTTGGCTCCCTGCCCCCCACCCCCGTGCTTCACGCTG GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGA CTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCATGG ACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCA CCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATGAG GAGGTGTCAGGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01978.hp1 HG02451.hp2 others(4): Show HG01074.hp1 HG01978.hp1 HG02451.hp2 HG02486.hp1 HG03195.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0007 a0001c0006t0054 a0001c0008t0027 others(1): Show a0001c0006t0007 a0001c0006t0054 a0001c0008t0027 a0001c0008t0028	a0001c0006t0007g0317 a0001c0006t0007g0318 a0001c0006t0007g0319 others(4): Show a0001c0006t0007g0317 a0001c0006t0007g0318 a0001c0006t0007g0319 a0001c0006t0054g0320 a0001c0008t0027g0009 a0001c0008t0027g0011 a0001c0008t0028g0010	7	322	0.0217	-261	c.735 others(15): Show c.735-371_735-111del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1397435	CACCCCCG others(254): Show CACCCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGG TGTCAGGAGGACACAGAGGACTTGGCTCCCCCACCCCGACCCCCGTGCTT CACGCTGGGGCAGGGCATGGACCTGGGGATGAGGAGGTGTCAGGGGGACA CAGAGGACTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAG GGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGC TCCCCCACCCCG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00735.hp1 others(15): Show HG00423.hp2 HG00609.hp1 HG00735.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG03490.hp2 NA18960.hp2 NA18962.hp2 NA18979.hp1 NA18984.hp2 NA19081.hp2 NA19084.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0091 others(15): Show a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0188 a0001c0001t0001g0219 a0001c0001t0002g0089 a0001c0001t0002g0195 a0001c0001t0004g0103 a0001c0001t0004g0185 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0022g0249 a0001c0001t0022g0250	18	322	0.0559	-261	c.735 others(15): Show c.735-401_735-141del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1397464	GTGGACCT others(254): Show GTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTCC CCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCATGGACCTGGGGA TGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCACCCCGACCC CCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCA GGGGGACACAGAGGACTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGC TGGGGCAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19012.hp1 HG02523.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0164 a0001c0001t0020g0165 a0001c0001t0020g0164 a0001c0001t0020g0165	2	322	0.0062	-261	c.735 others(15): Show c.735-430_735-170del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1397492	AGGACACA others(254): Show AGGACACAGAGGACTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGCTG GGGCAGGGCATGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGA CTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCGTGG ACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCA CCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCATGGACCTGGGGATGAG GAGGTGTCAGGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0030 a0001c0014t0030	a0001c0014t0030g0013 a0001c0014t0030g0013	1	322	0.0031	-261	c.735 others(15): Show c.735-458_735-198del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
ABHD8_chr19_17287131_17308425	17306948	CGGGTTCA others(253): Show CGGGTTCAAGCGATTCTCCTGCCTCACCCTCCCGAGTAGCTGGGATTACA GGCATGCGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGG TTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATCC GCCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCG CTCTGTCCCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAA CTCCCTCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG02717.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0051 a0001c0003t0003g0052 a0001c0003t0003g0051 a0001c0003t0003g0052	2	386	0.0052	-260	c.-39 others(11): Show c.-3975_-3716del		ABHD8	ENSG00000127220.6	transcript	ENST00000247706.4	protein_coding					3524		chr19	TogoVar
ABR_chr17_998519_1184981	1118175	TCCCTGAG others(253): Show TCCCTGAGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCC CCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTG AGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCC TGAGCCTGAGTCCTCCCAGCATTATCCCTGAGCCTGAGTTCCTCCCAGCG TTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCT CCCAGCGTTAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	337	0.0030	-260	c.246 others(17): Show c.246+6748_246+7007del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289319	CCGTGTCC others(253): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG04115.hp2 HG02602.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0043 a0001c0002t0001g0044	2	295	0.0068	-260	c.39 others(11): Show c.3985_*4244del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3071		chr1	TogoVar
ACSBG2_chr19_6130667_6198091	6152291	TTTTTTTT others(253): Show TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAA	T T	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18975.hp2 NA18983.hp2 others(3): Show NA18973.hp2 NA18975.hp2 NA18983.hp2 NA19066.hp2 NA19077.hp2 NA19085.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0241 a0003c0005t0001g0242 others(2): Show a0003c0005t0001g0001 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244	6	262	0.0229	-260	c.386 others(15): Show c.386+507_386+766del		ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
CARD6_chr5_40836367_40860354	40850847	AAAAAACC others(253): Show AAAAAACCTAAATGATCATCCATAGGCAATTGTTAAATAGTTACATCCAT CCAAACCATGGAGTACCATGAAATAGCTAAAATGAGTTAGGTAGATCAGT ATATATGCTGACTTGAAATAATTTGCAAGGAATACCACTAAGTGAAAAGA AGCTGAAGAATCATTTGTTTAGTATAATATCATTTATGTAAAAAAAAATA GCATGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTCATTTTGGGAGG CTGAGGCAGGT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18952.hp2 NA19000.hp1 others(5): Show HG02040.hp1 NA18952.hp2 NA19000.hp1 NA19006.hp1 NA19056.hp2 NA19064.hp1 NA19078.hp1 NA19080.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0021 a0001c0001 a0019c0021	a0001c0001t0002 a0019c0021t0002 a0001c0001t0002 a0019c0021t0002	a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0188 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0188 a0019c0021t0002g0128	8	440	0.0182	-260	c.842 others(17): Show c.842-1326_842-1067del		CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	2/2						chr5	TogoVar
CCDC126_chr7_23592382_23649708	23637672	CGCCCGAC others(253): Show CGCCCGACCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC AGCCGCCCAGTCCGGGAGGGAGGCGGGGAGGGGGGGGTCGGCCAGCCGCC CTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGACCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19079.hp1 NA18944.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0161 a0001c0001t0001g0113 a0001c0001t0001g0161	2	380	0.0053	-260	c.239 others(17): Show c.239-5253_239-4994del		CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CCNY_chr10_35331509_35577667	35518488	TTATTTGG others(253): Show TTATTTGGATGTGTAACAGCTCTTGATTGAATCTGGCTGAGGTAAATTGT GAGTATCTGGATTTTTAACAGATCTTGATTGAATCTGGCTGAGGTATGCT GTGAGTATCTGGATTTTTAACAGATCTTGATTGAATCTGGCTGAGGCATT CTCTGGGTATCTGGATTTTTAACAGATCTTGATTGAATCTGGCTGAGGTA TACTGTGGGTATCTGGATTTTTAACAGCTCTTGATTGAATCTGGCTGAGG CATACTGTGGG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG01167.hp1 others(36): Show HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG06807.hp2 NA18946.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0003c0004t0009	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 others(36): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0006g0006 a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0009g0142 a0001c0001t0010g0002 a0001c0001t0010g0007 a0001c0001t0015g0024 a0001c0001t0018g0001 a0001c0001t0019g0019 a0001c0001t0023g0005 a0003c0004t0009g0135 a0003c0004t0009g0136 a0003c0004t0009g0137	39	296	0.1318	-260	c.365 others(17): Show c.365+1875_365+2134del		CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
CDC42EP5_chr19_54460026_54478296	54471936	GGAGTCCA others(253): Show GGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCC CCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCC AGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCCAGCCCCTCCTCC CTCAGACTCAT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02615.hp2 others(7): Show HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0063 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069	10	421	0.0238	-260	c.-14 others(17): Show c.-141-511_-141-252del		CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2						chr19	TogoVar
CDH4_chr20_61247261_61945617	61675238	AGGAAACA others(253): Show AGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCACTCC CATGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCACT GCCGTGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCA CTCCCGTGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAG CACTCCCGTGGAAACAACCATCGCAGGGGCTGAGGCTTTGGGCTCAGCCA AGCACTCCCGT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0050 a0002c0004t0026g0050	1	106	0.0094	-260	c.170 others(19): Show c.170-68274_170-68015del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61675289	ATGGAAAC others(253): Show ATGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCACTG CCGTGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCAC TCCCGTGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGC ACTCCCGTGGAAACAACCATCGCAGGGGCTGAGGCTTTGGGCTCAGCCAA GCACTCCCGTGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCC AAGCACTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp1 HG02809.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0049 a0001c0001t0001 a0001c0006t0049	a0001c0001t0001g0032 a0001c0006t0049g0071 a0001c0001t0001g0032 a0001c0006t0049g0071	2	106	0.0189	-260	c.170 others(19): Show c.170-68225_170-67966del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDK12_chr17_39456486_39539544	39498948	TTTCTTTC others(253): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	260	0.0039	-260	c.242 others(19): Show c.2420-2299_2420-2040del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CENPS_chr1_10425433_10447808	10446767	GTAGCTGA others(253): Show GTAGCTGAGACCACAGGTATGTGCCTCCACGTCCAGCTAATTTCTGTAGA GATGGAGTTTTGCCATGTTGCCCAGGCTGGTCTTGAATTCCTGGGCTCAA GCGAATCTCTCGCCTCAGCCTCCCAAGTAGTCAGGACTGCAGGTGTGCAT TGCCATGCCTGGCTAAATTTTTGTTTTTTTTTGGTAGAGATGGGGTCTTG CTATGTTGCCCAGTCTGGTCTTGAACTCCTGGGCTTAAGTGATCCTCTTG TCTCCACCTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	410	0.0024	-260	c.43 others(11): Show c.4363_*4622del		CENPS	ENSG00000175279.22	transcript	ENST00000309048.8	protein_coding					3960		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45501786	ACAGCCGG others(253): Show ACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCT CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG CAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAG GACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTC AGGGGCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG02004.hp2 others(1): Show HG00639.hp1 HG01106.hp1 HG02004.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0003t0001 a0001c0008t0002 a0001c0001t0001 a0001c0003t0001 a0001c0008t0002	a0001c0001t0001g0228 a0001c0003t0001g0085 a0001c0003t0001g0254 others(1): Show a0001c0001t0001g0228 a0001c0003t0001g0085 a0001c0003t0001g0254 a0001c0008t0002g0240	4	292	0.0137	-260	c.268 others(19): Show c.2684-2210_2684-1951del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
CSMD1_chr8_2930361_4999914	3183233	CGATACCA others(253): Show CGATACCATCGGCATCCATCCACGTCACAAACTGAACGCCTAATCTATCT ATCCCTGAAACATCGAGTAGGTCTCTAACGCCTAATCTATCTATCCCTGA AATATCGAGTAGGTCTCTAATGTTTCTTAACGATACCATCGGCACCCACC GACGTCACGAACTGAACGCCTAATCTATCTATCCCTGAAACATCGAGTAG GTCTCTAACGCCTAATCTATCTATCCCTGAAATATCGAGTAGGTCTCTAA CGTTTCTTAAA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0013 a0002c0048t0013	a0002c0048t0013g0015 a0002c0048t0013g0015	1	126	0.0079	-260	c.562 others(19): Show c.5621-2279_5621-2020del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69						chr8	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(253): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGG	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0296	1	386	0.0026	-260	c.199 others(17): Show c.199-2184_199-1925del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931541	CGGGGAGA others(253): Show CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0302 a0001c0002t0003g0302	1	386	0.0026	-260	c.199 others(17): Show c.199-2200_199-1941del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931543	GGGAGAGG others(253): Show GGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0237 a0001c0002t0016g0237	1	386	0.0026	-260	c.199 others(17): Show c.199-2202_199-1943del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931641	CGAGGAGA others(253): Show CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0246 a0001c0002t0003g0246	1	386	0.0026	-260	c.199 others(17): Show c.199-2300_199-2041del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932003	AGGAGAGG others(253): Show AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGTGG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0009 a0001c0002t0017g0009	1	386	0.0026	-260	c.198 others(17): Show c.198+1948_198+2207del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932203	AGGAGAGG others(253): Show AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0261 a0001c0002t0051g0261	1	386	0.0026	-260	c.198 others(17): Show c.198+1748_198+2007del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932829	GGAATGAG others(253): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0068 a0002c0001t0068	a0002c0001t0068g0045 a0002c0001t0068g0045	1	386	0.0026	-260	c.198 others(17): Show c.198+1122_198+1381del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933569	GGAATGAG others(253): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0054 a0002c0001t0054	a0002c0001t0054g0339 a0002c0001t0054g0339	1	386	0.0026	-260	c.198 others(15): Show c.198+382_198+641del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar

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Search Results (Total: 10000 hits)