Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
NGLY1_chr3_25713944_25788443	25783480	ACCGGCAG others(59): Show ACCGGCAGGGGCGGGGTCCTCGGCCGGCAGGGGCGGGGTCCTCGGCCGGC AGGGGCGGGGTCCTCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	264	0.0038	-66	c.-15 others(74): Show c.-156_-91delCCGAGGACCCCGCCCCTGCCGGCCGAGGACCCCGCCC CTGCCGGCCGAGGACCCCGCCCCTGCCGG		NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding					38		chr3	TogoVar
NINJ2_chr12_559296_668445	609276	GCGCTAGG others(59): Show GCGCTAGGTGCTGAACGCACACGCACGGCGCCACGCGCTAGGTGCTGAAC GCACACGCACGGCGCCA	G G	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	404	0.0025	-66	c.34- others(83): Show c.34-43164_34-43099delTGGCGCCGTGCGTGTGCGTTCAGCACCT AGCGCGTGGCGCCGTGCGTGTGCGTTCAGCACCTAGCG		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NKAIN2_chr6_123798865_124830640	123976264	TGTTTCCA others(59): Show TGTTTCCATATATATGTTTCCATATATATGTTTCCATATATATGTTTCCA TATATATATATGTTCCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02486.hp1 NA18964.hp2 HG01346.hp1 HG02486.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0016 a0001c0001t0003 a0001c0001t0012 a0001c0001t0016	a0001c0001t0003g0012 a0001c0001t0012g0057 a0001c0001t0016g0010 a0001c0001t0003g0012 a0001c0001t0012g0057 a0001c0001t0016g0010	3	66	0.0455	-66	c.54+ others(85): Show c.54+172011_54+172076delGTTTCCATATATATGTTTCCATATAT ATGTTTCCATATATATGTTTCCATATATATATATGTTCCC		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6						chr6	TogoVar
NKX2-1_chr14_36511397_36525232	36511607	AAGAGATA others(59): Show AAGAGATACATATGTATATATACATGTGTATAAGAGAGATACATATGTAT ATATACATGTGTATAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp2 others(101): Show HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18971.hp1 NA18979.hp2 NA18985.hp2 NA18990.hp1 NA18997.hp1 NA18999.hp1 NA19009.hp1 NA19030.hp2 NA19056.hp2 NA19068.hp2 NA19084.hp1 NA19087.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0003c0003t0004	a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0003g0002 others(14): Show a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0003g0002 a0001c0001t0004g0005 a0001c0001t0004g0013 a0001c0001t0004g0051 a0001c0001t0005g0004 a0001c0001t0006g0006 a0001c0001t0008g0008 a0001c0001t0013g0015 a0001c0001t0015g0018 a0001c0001t0017g0024 a0001c0001t0019g0026 a0001c0001t0023g0040 a0001c0001t0024g0041 a0001c0001t0025g0042 a0003c0003t0004g0032	104	426	0.2441	-66	c.56 others(77): Show c.5605_*5670delCTTATACACATGTATATATACATATGTATCTCTC TTATACACATGTATATATACATATGTATCTCT		NKX2-1	ENSG00000136352.20	transcript	ENST00000354822.7	protein_coding					4789		chr14	TogoVar
NME5_chr5_138110175_138144428	138143607	TGCTCTGT others(59): Show TGCTCTGTATCTAGCTAAAGGTTTGTAAACACACCAATCAGCACTCTGTA AAAACGCACCAATCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(136): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(83): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274	139	388	0.3583	-66	c.-43 others(77): Show c.-4308_-4243delGCTGATTGGTGCGTTTTTACAGAGTGCTGATTGG TGTGTTTACAAACCTTTAGCTAGATACAGAGC		NME5	ENSG00000112981.5	transcript	ENST00000265191.4	protein_coding					4180		chr5	TogoVar
NME8_chr7_37843597_37905397	37848179	AGAAGAAG others(59): Show AGAAGAAGAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01123.hp1 HG01167.hp1 others(7): Show HG00558.hp1 HG01123.hp1 HG01167.hp1 HG03927.hp1 NA18978.hp1 NA18995.hp2 NA19001.hp1 NA19002.hp1 NA19076.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0008 others(1): Show a0001c0001 a0001c0004 a0002c0008 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0004t0003 a0002c0008t0001 a0004c0005t0003	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0086 others(7): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0003g0109 a0001c0004t0001g0157 a0001c0004t0003g0050 a0002c0008t0001g0115 a0004c0005t0003g0104	10	388	0.0258	-66	c.-78 others(75): Show c.-789_-724delGAAGAAGAAGAAGAAGAAGAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					417		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183389786	AAGAAAGA others(59): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01978.hp2 NA19012.hp1 HG01169.hp1 HG01978.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0039 a0001c0001t0001 a0001c0001t0035 a0001c0001t0039	a0001c0001t0001g0036 a0001c0001t0035g0031 a0001c0001t0039g0050 a0001c0001t0001g0036 a0001c0001t0035g0031 a0001c0001t0039g0050	3	258	0.0116	-66	c.85+ others(83): Show c.85+28331_85+28396delCTTTTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NOS3_chr7_150986017_151019588	150996012	TCCCATCC others(59): Show TCCCATCCCACCCCTGCACCCCTCCTCCCTCTGCCCCTACCCCACCTCTG CACCCCTCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(41): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01943.hp1 HG02015.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02572.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03540.hp2 HG03927.hp1 HG04115.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18968.hp2 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA19002.hp1 NA19011.hp2 NA19012.hp1 NA19068.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0010	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0032 a0004c0031 a0006c0012 a0010c0016	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0005t0001 a0001c0032t0001 a0004c0031t0001 a0006c0012t0001 a0010c0016t0001	a0001c0001t0001g0142 a0001c0001t0001g0303 a0001c0002t0001g0010 others(36): Show a0001c0001t0001g0142 a0001c0001t0001g0303 a0001c0002t0001g0010 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0062 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0282 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0004g0286 a0001c0005t0001g0011 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0032t0001g0042 a0004c0031t0001g0051 a0006c0012t0001g0292 a0006c0012t0001g0294 a0010c0016t0001g0283	44	382	0.1152	-66	c.271 others(81): Show c.271-346_271-281delTCTGCACCCCTCCTCCTTCTCCCCATCCCA CCCCTGCACCCCTCCTCCCTCTGCCCCTACCCCACC		NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
NRG3_chr10_81870194_82992178	81900215	TGGGATTA others(59): Show TGGGATTACAGGCATGAGCCAATGCGCCTGGCCGGTTTTTAACGCACACT TCTTATAAGTGCCTAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(54): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01071.hp2 HG01081.hp1 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG04204.hp2 NA18942.hp1 NA18942.hp2 NA19079.hp1 NA19079.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0005t0003 a0001c0007t0003 a0002c0003t0004 a0003c0004t0001 a0004c0006t0008	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 others(54): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0036 a0001c0001t0003g0059 a0001c0001t0005g0003 a0001c0001t0005g0023 a0001c0001t0005g0044 a0001c0001t0005g0049 a0001c0001t0005g0060 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0005g0002 a0001c0002t0006g0021 a0001c0002t0006g0042 a0001c0002t0007g0066 a0001c0005t0003g0005 a0001c0007t0003g0034 a0002c0003t0004g0001 a0002c0003t0004g0017 a0002c0003t0004g0019 a0002c0003t0004g0027 a0002c0003t0004g0043 a0002c0003t0004g0047 a0003c0004t0001g0063 a0003c0004t0001g0064 a0003c0004t0001g0065 a0004c0006t0008g0022	57	66	0.8636	-66	c.823 others(85): Show c.823+24119_823+24184delGGGATTACAGGCATGAGCCAATGCGC CTGGCCGGTTTTTAACGCACACTTCTTATAAGTGCCTAGC		NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
NTRK3_chr15_87854751_88261739	88230731	AAGACAAA others(59): Show AAGACAAAACCACCCTGTAAATAAAGACAAAGGTAAAATGTCTTTTAAGC CAATATTAACAAAGCTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0070 a0001c0004t0070	a0001c0004t0070g0070 a0001c0004t0070g0070	1	134	0.0075	-66	c.248 others(85): Show c.248+25109_248+25174delGAGCTTTGTTAATATTGGCTTAAAAG ACATTTTACCTTTGTCTTTATTTACAGGGTGGTTTTGTCT		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	3/19						chr15	TogoVar
NUP210_chr3_13311235_13425322	13377787	TCCACCCA others(59): Show TCCACCCACCTGCAGGCCCCACACCACTTACCTGGAGGCCCCACACCACC CACCTGCAGGCCCCACA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0278 a0003c0005t0005g0278	1	326	0.0031	-66	c.104 others(83): Show c.1046-291_1046-226delTGTGGGGCCTGCAGGTGGGTGGTGTGGG GCCTCCAGGTAAGTGGTGTGGGGCCTGCAGGTGGGTGG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	8/39						chr3	TogoVar
NUPR1_chr16_28527708_28543974	28535557	TTCTTTCC others(59): Show TTCTTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0249 a0001c0001t0249	a0001c0001t0249g0122 a0001c0001t0249g0122	1	368	0.0027	-66	c.20 others(77): Show c.2060_*2125delGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGGAAGGAAGGAAAGA		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2396		chr16	TogoVar
ODAD3_chr19_11415605_11440121	11424931	ATATATGT others(59): Show ATATATGTATATATGTGTATATGTACATATGTGTATATATGTATATATGT GTATATGTACATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG02647.hp2 others(2): Show HG01934.hp2 HG02055.hp1 HG02647.hp2 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0358	5	398	0.0126	-66	c.964 others(81): Show c.964-968_964-903delCACATATGTACATATACACATATATACATA TATACACATATGTACATATACACATATATACATATA		ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12						chr19	TogoVar
OGDHL_chr10_49729641_49767323	49738042	GCTGGCTC others(59): Show GCTGGCTCACCTCGAAGTCCTTGGTGAATGCCTGTGGGGACGAGATGCAT ATGGCCAGGGTGGCTGT	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01433.hp2 HG01433.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0160 a0010c0013t0001g0160	1	316	0.0032	-66	c.239 others(78): Show c.2392-36_2421delACAGCCACCCTGGCCATATGCATCTCGTCCCCA CAGGCATTCACCAAGGACTTCGAGGTGAGCCAG	p.Ala others(13): Show p.Ala798_Leu808del	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	19/23	2507/3706	2392/3033	798/1010			chr10	TogoVar
OPRL1_chr20_64075082_64105633	64094550	TGTGGGGG others(59): Show TGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGGGCAGTGTGTGGGTCAGTG TGCGGGCAGTGTGTGGG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp2 HG01192.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0005 a0001c0001t0001 a0001c0006t0005	a0001c0001t0001g0055 a0001c0006t0005g0018 a0001c0001t0001g0055 a0001c0006t0005g0018	2	66	0.0303	-66	c.233 others(83): Show c.233+1599_233+1664delTGGGGGGCAGTGTGGGGGCAGTGTGTGG GGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGTGTGGGG		OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
OR2AE1_chr7_99871062_99882033	99877588	CGTTGCTT others(59): Show CGTTGCTTATTTTATCAGTGAGGATTTTACTAGAAAAGCTATAACACTAA GAGATTTCTCTTATACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	388	0.0026	-66	c.-62 others(75): Show c.-621_-556delTGTATAAGAGAAATCTCTTAGTGTTATAGCTTTTCT AGTAAAATCCTCACTGATAAAATAAGCAAC		OR2AE1	ENSG00000244623.2	transcript	ENST00000316368.3	protein_coding					556		chr7	TogoVar
OR2M3_chr1_248192265_248217925	248213415	ATATATAT others(59): Show ATATATATATGTATATATATATATGTATATATATATATGTATATATATAT ATGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0089 a0001c0002t0089	a0001c0002t0089g0044 a0001c0002t0089g0044	1	410	0.0024	-66	c.94 others(77): Show c.9410_*9475delTATATATATGTATATATATATATGTATATATATA TATGTATATATATATATGTATATATATATATG		OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding					491		chr1	TogoVar
OR2M3_chr1_248192265_248217925	248213441	ATATATAT others(59): Show ATATATATATATGTATATATATATATGTATATATATATATGTATATATAT ATATGTATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03195.hp2 HG01884.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0009 a0001c0001t0028g0009	2	410	0.0049	-66	c.94 others(77): Show c.9436_*9501delTATATATATATGTATATATATATATGTATATATA TATATGTATATATATATATGTATATATATATT		OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding					517		chr1	TogoVar
OR4M2B_chr15_21632909_21643992	21642116	CATATATG others(59): Show CATATATGTATATATATATATACACATATATATGTATATATATACACACA TATATATGTATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0000 a0005c0010t0001g0000	1	215	0.0047	-66	c.31 others(77): Show c.3169_*3234delATATATGTATATATATATATACACATATATATGT ATATATATACACACATATATATGTATATATAT		OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding					3125		chr15	TogoVar
OR5P2_chr11_7790974_7801942	7797779	TGTACAAC others(59): Show TGTACAACTGATGTATAAAAGAGACGCCTAGCTAGTTACATAGTTTACAA TGTTTATCAGTTAAACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	311	0.0032	-66	c.-90 others(75): Show c.-903_-838delTGTTTAACTGATAAACATTGTAAACTATGTAACTAG CTAGGCGTCTCTTTTATACATCAGTTGTAC		OR5P2	ENSG00000183303.3	transcript	ENST00000329434.3	protein_coding					838		chr11	TogoVar
OR6J1_chr14_22625929_22649352	22636225	GCCCTCTC others(59): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCT	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	362	0.0028	-66	c.-27 others(83): Show c.-27-1453_-27-1388delAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar
OSBPL10_chr3_31655825_31986262	31812752	AAGAAAGA others(59): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00597.hp2 others(14): Show HG00099.hp1 HG00099.hp2 HG00597.hp2 HG01070.hp2 HG01074.hp1 HG01255.hp2 HG01981.hp2 HG01993.hp2 HG02615.hp2 HG03098.hp1 HG03704.hp1 HG04184.hp1 NA18959.hp2 NA18964.hp1 NA18982.hp1 NA19070.hp2 NA19074.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0007 a0002c0012 a0002c0030 a0002c0038 a0003c0013 a0003c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0002 a0002c0003t0001 a0002c0004t0001 a0002c0007t0004 a0002c0012t0003 a0002c0030t0004 a0002c0038t0003 a0003c0013t0001 a0003c0022t0003	a0001c0001t0001g0024 a0001c0001t0001g0079 a0001c0001t0002g0084 others(14): Show a0001c0001t0001g0024 a0001c0001t0001g0079 a0001c0001t0002g0084 a0001c0002t0001g0121 a0001c0002t0001g0128 a0001c0006t0002g0046 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0057 a0002c0003t0001g0105 a0002c0004t0001g0080 a0002c0007t0004g0042 a0002c0012t0003g0176 a0002c0030t0004g0041 a0002c0038t0003g0179 a0003c0013t0001g0011 a0003c0022t0003g0160	17	186	0.0914	-66	c.729 others(85): Show c.729+17222_729+17287delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OSGEPL1_chr2_189741660_189767792	189742865	GACACACA others(59): Show GACACACACACACACACACACACACACACTAGAATTACCTGACACACACA CACACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA19030.hp1 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	358	0.0056	-66	c.42 others(77): Show c.4266_*4331delGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGTAAT TCTAGTGTGTGTGTGTGTGTGTGTGTGTGTGT		OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding					3794		chr2	TogoVar
OVOL1_chr11_65782063_65802214	65784301	GAGCCGAG others(59): Show GAGCCGAGGGGAGGCCTGGCCTGGGTTTTAAGAGCACCTCGTGTGGCCCA CCTGCCTCTCCAACCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	444	0.0023	-66	c.-30 others(77): Show c.-3072_-3007delAGCCGAGGGGAGGCCTGGCCTGGGTTTTAAGAGC ACCTCGTGTGGCCCACCTGCCTCTCCAACCTC		OVOL1	ENSG00000172818.10	transcript	ENST00000335987.8	protein_coding					2761		chr11	TogoVar
PALMD_chr1_99641113_99699535	99683022	AAGAAAGA others(59): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00738.hp2 others(16): Show HG00140.hp1 HG00423.hp2 HG00738.hp2 HG01123.hp2 HG01515.hp2 HG01993.hp2 HG02280.hp1 HG03688.hp2 HG04184.hp1 NA18952.hp2 NA18979.hp1 NA18984.hp1 NA19010.hp2 NA19058.hp2 NA19076.hp1 NA19081.hp1 NA19087.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0066 others(16): Show a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0249	19	380	0.0500	-66	c.252 others(83): Show c.252-3618_252-3553delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAM16_chr16_4335251_4356321	4351115	GCCGGGCA others(59): Show GCCGGGCACGCAGGGGGCGCACGGCGCCCGCCGCCCAGCCCGGAGCTCGC CGCCCGGCCCCCGGCCC	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	367	0.0027	-66	c.3+5 others(76): Show c.3+51_3+116delGGGCCGGGGGCCGGGCGGCGAGCTCCGGGCTGGGC GGCGGGCGCCGTGCGCCCCCTGCGTGCCCGG		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PAQR5_chr15_69293912_69412780	69300737	TTTCTTTC others(59): Show TTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTC TTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp2 others(65): Show HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02738.hp1 HG03669.hp1 HG04184.hp1 NA18941.hp1 NA18947.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19030.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 others(65): Show a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0094 a0001c0001t0008g0092 a0001c0001t0008g0095 a0001c0001t0013g0113 a0001c0001t0016g0109 a0001c0001t0017g0053 a0001c0001t0022g0049 a0001c0003t0003g0068 a0001c0003t0003g0083 a0001c0003t0003g0106 a0001c0003t0003g0114 a0001c0003t0003g0118 a0002c0002t0002g0076 a0002c0002t0002g0085 a0002c0002t0002g0097 a0002c0002t0002g0112	68	284	0.2394	-66	c.-27 others(85): Show c.-277+1689_-277+1754delTTTCATTCTTTCTCTTCCTTCCTCCC TCCCTCTCTCTCTCTCTTTCTTTCTTTCTTTCCTTCTTTC		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	205057320	TTATATAT others(59): Show TTATATATGTATATGTGTTATATACATATACATATATACATGTATATGTG TTATATACATATACATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02723.hp1 others(5): Show HG02145.hp1 HG02622.hp1 HG02723.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0008 a0001c0022 others(1): Show a0001c0002 a0001c0008 a0001c0022 a0008c0007	a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 others(4): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0008t0001 a0001c0022t0018 a0008c0007t0001 a0008c0007t0005	a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 others(5): Show a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 a0001c0002t0013g0022 a0001c0008t0001g0054 a0001c0022t0018g0020 a0008c0007t0001g0026 a0008c0007t0005g0040	8	54	0.1482	-66	c.504 others(83): Show c.504+9635_504+9700delTATGTATATGTGTTATATACATATACAT ATATACATGTATATGTGTTATATACATATACATATATA		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PATL1_chr11_59631716_59674037	59672310	CTATATAT others(59): Show CTATATATATATATATATATATATATATATATATATATATATATATGGTT TTTTTTGTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01106.hp1 others(31): Show HG00639.hp2 HG00733.hp1 HG01106.hp1 HG01243.hp1 HG01361.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 NA18939.hp2 NA18941.hp2 NA18949.hp2 NA18961.hp1 NA18967.hp2 NA18973.hp2 NA18991.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19066.hp1 NA19067.hp2 NA19078.hp1 NA19079.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0006g0032 a0001c0001t0007g0177	34	276	0.1232	-66	c.-34 others(77): Show c.-3481_-3416delTATATATATACAAAAAAAACCATATATATATATA TATATATATATATATATATATATATATATATA		PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding					3274		chr11	TogoVar
PAXBP1_chr21_32728899_32776755	32771848	AAGAGAGA others(59): Show AAGAGAGAGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02145.hp1 HG02129.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0152 a0001c0004t0001g0206 a0001c0001t0001g0152 a0001c0004t0001g0206	2	360	0.0056	-66	c.-24 others(75): Show c.-246_-181delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCACTCTCTCTCT		PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding					94		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771883	AGAGAGAG others(59): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG01884.hp1 others(21): Show HG00323.hp2 HG01243.hp2 HG01884.hp1 HG02257.hp2 HG02280.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG03486.hp1 HG03516.hp1 NA18945.hp1 NA18949.hp2 NA18957.hp2 NA18969.hp1 NA19012.hp1 NA19056.hp2 NA19062.hp1 NA19067.hp1 NA19074.hp2 NA19076.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0009 a0001c0001 a0001c0006 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0006t0001 a0004c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0017 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0004g0243 a0001c0006t0001g0061 a0004c0009t0001g0119	24	360	0.0667	-66	c.-28 others(75): Show c.-281_-216delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC		PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding					129		chr21	TogoVar
PAXIP1_chr7_154938690_155008124	154977915	ACAGACCA others(59): Show ACAGACCAAACTTTTTAATGTACATTTTCGAACGCAGACCAAACTTTTTA ATGTACATTTTCGAACG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02895.hp2 others(4): Show HG02258.hp1 HG02451.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0007 a0001c0001t0004g0058 a0001c0001t0004g0059	7	362	0.0193	-66	c.439 others(83): Show c.439-1650_439-1585delCGTTCGAAAATGTACATTAAAAAGTTTG GTCTGCGTTCGAAAATGTACATTAAAAAGTTTGGTCTG		PAXIP1	ENSG00000157212.20	transcript	ENST00000404141.6	protein_coding	5/20						chr7	TogoVar
PCBP3_chr21_45638725_45947450	45924876	CGAGGAGA others(59): Show CGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGGTCGGGTGTGCGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	292	0.0034	-66	c.718 others(83): Show c.718-5031_718-4966delTGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH15_chr10_53797771_54806231	54307028	ATGTGTGT others(59): Show ATGTGTGTGTGTGTATATATATATATATATATATATATATATATATATAT ATACATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG04184.hp2 HG02615.hp1 HG02896.hp1 HG04184.hp2	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0002 a0005c0005 a0010c0009 a0002c0002 a0005c0005 a0010c0009	a0002c0002t0005 a0005c0005t0005 a0010c0009t0011 a0002c0002t0005 a0005c0005t0005 a0010c0009t0011	a0002c0002t0005g0016 a0005c0005t0005g0036 a0010c0009t0011g0078 a0002c0002t0005g0016 a0005c0005t0005g0036 a0010c0009t0011g0078	3	102	0.0294	-66	c.876 others(85): Show c.876+10177_876+10242delCATATATATATATGTATATATATATA TATATATATATATATATATATATATATACACACACACACA		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	54307040	GTATATAT others(59): Show GTATATATATATATATATATATATATATATATATATATATACATATATAT ATATGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0024 a0024	a0024c0029 a0024c0029	a0024c0029t0011 a0024c0029t0011	a0024c0029t0011g0099 a0024c0029t0011g0099	1	102	0.0098	-66	c.876 others(85): Show c.876+10165_876+10230delTACACACACACACATATATATATATG TATATATATATATATATATATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307028	ATGTGTGT others(59): Show ATGTGTGTGTGTGTATATATATATATATATATATATATATATATATATAT ATACATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04184.hp1 HG02615.hp1 HG04184.hp1	a0002 a0005 a0002 a0005	a0002c0006 a0005c0009 a0002c0006 a0005c0009	a0002c0006t0001 a0005c0009t0001 a0002c0006t0001 a0005c0009t0001	a0002c0006t0001g0016 a0005c0009t0001g0033 a0002c0006t0001g0016 a0005c0009t0001g0033	2	94	0.0213	-66	c.876 others(85): Show c.876+10177_876+10242delCATATATATATATGTATATATATATA TATATATATATATATATATATATATATACACACACACACA		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307040	GTATATAT others(59): Show GTATATATATATATATATATATATATATATATATATATATACATATATAT ATATGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0020 a0020	a0020c0037 a0020c0037	a0020c0037t0001 a0020c0037t0001	a0020c0037t0001g0091 a0020c0037t0001g0091	1	94	0.0106	-66	c.876 others(85): Show c.876+10165_876+10230delTACACACACACACATATATATATATG TATATATATATATATATATATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32						chr10	TogoVar
PCSK6_chr15_101298933_101494707	101334169	CGACACAG others(59): Show CGACACAGGAAGTTGTTCTCACCGCTGCAGCAGTGACACAGGAAGTTGTT CTCACCGCTGCAGCAGT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03710.hp2 others(3): Show HG03490.hp1 HG03492.hp1 HG03710.hp2 NA18952.hp2 NA18967.hp1 NA18969.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0010 a0001c0057 others(2): Show a0001c0006 a0001c0010 a0001c0057 a0003c0015 a0003c0062	a0001c0006t0001 a0001c0010t0002 a0001c0057t0004 others(2): Show a0001c0006t0001 a0001c0010t0002 a0001c0057t0004 a0003c0015t0001 a0003c0062t0001	a0001c0006t0001g0116 a0001c0010t0002g0169 a0001c0010t0002g0190 others(3): Show a0001c0006t0001g0116 a0001c0010t0002g0169 a0001c0010t0002g0190 a0001c0057t0004g0222 a0003c0015t0001g0313 a0003c0062t0001g0312	6	336	0.0179	-66	c.185 others(85): Show c.1859-2204_1859-2139delACTGCTGCAGCGGTGAGAACAACTTC CTGTGTCACTGCTGCAGCGGTGAGAACAACTTCCTGTGTC		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21						chr15	TogoVar
PDE11A_chr2_177618244_178077777	177853644	ATATATAT others(59): Show ATATATATATATATATATATATATATATATATATATATGTGTGTGTGTGT GTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp1 NA19043.hp1 others(1): Show HG03540.hp2 NA18906.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0001c0024	a0001c0001t0060 a0001c0003t0059 a0001c0010t0002 others(1): Show a0001c0001t0060 a0001c0003t0059 a0001c0010t0002 a0001c0024t0017	a0001c0001t0060g0080 a0001c0003t0059g0023 a0001c0010t0002g0022 others(1): Show a0001c0001t0060g0080 a0001c0003t0059g0023 a0001c0010t0002g0022 a0001c0024t0017g0044	4	170	0.0235	-66	c.136 others(87): Show c.1368-13327_1368-13262delCACACACACACACACACACACACA CACACATATATATATATATATATATATATATATATATATATA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	5/19						chr2	TogoVar
PECR_chr2_216033388_216086809	216066537	AGAACAAA others(59): Show AGAACAAATAAATATGCCTTCATGGGATGCAATGACCACATTACACCTTG AAAAGTAAACCGCCAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp2 HG03579.hp2 others(1): Show HG02109.hp1 HG03486.hp2 HG03579.hp2 NA20752.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0011 a0006c0005 a0010c0012 a0001c0011 a0006c0005 a0010c0012	a0001c0011t0006 a0006c0005t0009 a0010c0012t0003 a0001c0011t0006 a0006c0005t0009 a0010c0012t0003	a0001c0011t0006g0383 a0006c0005t0009g0217 a0006c0005t0009g0381 others(1): Show a0001c0011t0006g0383 a0006c0005t0009g0217 a0006c0005t0009g0381 a0010c0012t0003g0215	4	398	0.0101	-66	c.125 others(79): Show c.125-85_125-20delCCTGGCGGTTTACTTTTCAAGGTGTAATGTGG TCATTGCATCCCATGAAGGCATATTTATTTGTTC		PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	1/7						chr2	TogoVar
PGR_chr11_101024624_101134813	101053505	CTCCCTCC others(59): Show CTCCCTCCCCTTCTCCCTCCTTTCTTCCCTCCCCTTCTCCCTTTCTTCCC TCCCCTTCTCCCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02258.hp1 others(7): Show HG01243.hp2 HG02145.hp1 HG02258.hp1 HG02896.hp2 HG02897.hp2 HG03225.hp1 HG06807.hp1 NA19043.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0020 others(1): Show a0001c0001 a0001c0003 a0003c0020 a0004c0006	a0001c0001t0065 a0001c0003t0061 a0003c0020t0064 others(4): Show a0001c0001t0065 a0001c0003t0061 a0003c0020t0064 a0004c0006t0011 a0004c0006t0039 a0004c0006t0040 a0004c0006t0041	a0001c0001t0065g0108 a0001c0003t0061g0171 a0003c0020t0064g0168 others(7): Show a0001c0001t0065g0108 a0001c0003t0061g0171 a0003c0020t0064g0168 a0004c0006t0011g0012 a0004c0006t0011g0014 a0004c0006t0011g0015 a0004c0006t0011g0016 a0004c0006t0039g0011 a0004c0006t0040g0010 a0004c0006t0041g0013	10	254	0.0394	-66	c.221 others(85): Show c.2213-2003_2213-1938delAGAAAGGGAGAAGGGGAGGGAAGAAA GGGAGAAGGGGAGGGAAGAAAGGAGGGAGAAGGGGAGGGA		PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	4/7						chr11	TogoVar
PHF21B_chr22_44876162_45015005	44884050	CCACCATC others(59): Show CCACCATCACCACCACCATGATCACCATTATCACCACCGCCACCACCATC ACTGTGATCAGCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG04204.hp2 HG01192.hp1 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0014 a0001c0002t0005 a0001c0002t0014	a0001c0002t0005g0068 a0001c0002t0014g0293 a0001c0002t0005g0068 a0001c0002t0014g0293	2	300	0.0067	-66	c.137 others(83): Show c.1378-812_1378-747delATGGTGCTGATCACAGTGATGGTGGTGG CGGTGGTGATAATGGTGATCATGGTGGTGGTGATGGTG		PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12						chr22	TogoVar
PHF21B_chr22_44876162_45015005	44884367	GTCACCAC others(59): Show GTCACCACCACCACCATCACGGTGATGAGCACCATCACCACCATCACCAC CACCATGATCACCATTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(53): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG00741.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01978.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02523.hp1 HG02559.hp1 HG02698.hp2 HG02738.hp2 HG03239.hp1 HG03516.hp1 HG03540.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp2 NA18974.hp1 NA18980.hp2 NA18993.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19055.hp1 NA19057.hp1 NA19066.hp2 NA19087.hp1 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0003c0008 a0004c0009 a0009c0016	a0001c0001t0002 a0001c0001t0034 a0001c0001t0045 others(5): Show a0001c0001t0002 a0001c0001t0034 a0001c0001t0045 a0001c0002t0002 a0001c0006t0002 a0003c0008t0002 a0004c0009t0002 a0009c0016t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0046 others(53): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0069 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0034g0202 a0001c0001t0045g0290 a0001c0002t0002g0094 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0006t0002g0260 a0003c0008t0002g0141 a0003c0008t0002g0142 a0003c0008t0002g0143 a0004c0009t0002g0185 a0004c0009t0002g0209 a0004c0009t0002g0217 a0009c0016t0002g0165	56	300	0.1867	-66	c.137 others(84): Show c.1377+993_1377+1058delTAATGGTGATCATGGTGGTGGTGATGG TGGTGATGGTGCTCATCACCGTGATGGTGGTGGTGGTGA		PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12						chr22	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(59): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG06807.hp2 NA18954.hp1 HG01243.hp1 HG06807.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0233 a0001c0001t0001g0289 a0001c0001t0001g0144 a0001c0001t0001g0233 a0001c0001t0001g0289	3	350	0.0086	-66	c.51 others(77): Show c.5139_*5204delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding					2447		chr10	TogoVar
PIEZO2_chr18_10665247_11154569	10886323	CATATATA others(59): Show CATATATATATATATATATATACACACACACACACACACATATATATGTG TGTGTGTGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0038 a0002c0001t0001g0038	1	158	0.0063	-66	c.330 others(85): Show c.330-14974_330-14909delATATATATACACACACACACATATAT ATGTGTGTGTGTGTGTGTGTATATATATATATATATATAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIK3R5_chr17_8873916_8970707	8885429	TGGCCTCG others(59): Show TGGCCTCGCCTCCTGGGTAACCCCGCCCTCCCATGGCCCCACCTCCTGGG TAACCCCGCCTCCCCAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02572.hp2 others(8): Show HG02109.hp1 HG02257.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0023 a0001c0004 a0001c0012 a0001c0023	a0001c0004t0001 a0001c0004t0008 a0001c0004t0011 others(2): Show a0001c0004t0001 a0001c0004t0008 a0001c0004t0011 a0001c0012t0001 a0001c0023t0001	a0001c0004t0001g0079 a0001c0004t0001g0093 a0001c0004t0001g0218 others(8): Show a0001c0004t0001g0079 a0001c0004t0001g0093 a0001c0004t0001g0218 a0001c0004t0001g0259 a0001c0004t0001g0265 a0001c0004t0001g0273 a0001c0004t0008g0111 a0001c0004t0011g0260 a0001c0012t0001g0109 a0001c0012t0001g0151 a0001c0023t0001g0153	11	298	0.0369	-66	c.212 others(83): Show c.2129-712_2129-647delCTGGGGAGGCGGGGTTACCCAGGAGGTG GGGCCATGGGAGGGCGGGGTTACCCAGGAGGCGAGGCC		PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	14/18						chr17	TogoVar
PIK3R5_chr17_8873916_8970707	8885593	TGGCCCTG others(59): Show TGGCCCTGCCTCCTAGGTAACCCCGCCCCCCCATGGCCCCACCTCCTGGG TAACCCCGCCTCCCCAG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp2 HG03225.hp2 others(2): Show HG02257.hp1 HG02922.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0008 a0001c0004t0001 a0001c0004t0008	a0001c0004t0001g0079 a0001c0004t0001g0259 a0001c0004t0001g0265 others(2): Show a0001c0004t0001g0079 a0001c0004t0001g0259 a0001c0004t0001g0265 a0001c0004t0001g0273 a0001c0004t0008g0111	5	298	0.0168	-66	c.212 others(83): Show c.2128+570_2128+635delCTGGGGAGGCGGGGTTACCCAGGAGGTG GGGCCATGGGGGGGCGGGGTTACCTAGGAGGCAGGGCC		PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	14/18						chr17	TogoVar
PIR_chrX_15379799_15498333	15433868	AAAGAAGG others(59): Show AAAGAAGGAGGAGGAAGGAGAAAGAAGGAGGAGGAGGAAGGGGAAAGAAG GAGGAGGAGGAAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02630.hp2 HG02293.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0120 a0001c0001t0001g0148	2	272	0.0074	-66	c.481 others(83): Show c.481-7944_481-7879delCCTCCTTCCTCCTCCTCCTTCTTTCCCC TTCCTCCTCCTCCTTCTTTCTCCTTCCTCCTCCTTCTT		PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	5/9						chrX	TogoVar
PIR_chrX_15379799_15498333	15433941	GAGGAGGA others(59): Show GAGGAGGAGGAAGGAGAAAGAAGGAGGAGGAGGAAGGAGAAAGCAGGAGG AGGAGGAAGGAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG03041.hp2 others(1): Show HG01884.hp2 HG02280.hp2 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0140 a0001c0001t0001g0235 a0001c0001t0006g0236 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0235 a0001c0001t0006g0236 a0001c0001t0006g0237	4	272	0.0147	-66	c.481 others(83): Show c.481-8017_481-7952delTCTTTCTCCTTCCTCCTCCTCCTGCTTT CTCCTTCCTCCTCCTCCTTCTTTCTCCTTCCTCCTCCT		PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	5/9						chrX	TogoVar
PKD2L1_chr10_100283149_100335228	100314993	AGGAAGGA others(59): Show AGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	306	0.0033	-66	c.349 others(85): Show c.349+14152_349+14217delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCTTCCTTCCTTCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar

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