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

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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
PXDNL_chr8_51314577_51814445	51607616	GGATCACC others(990): Show GGATCACCTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGCAAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGTGCATGCC TGTAGTCCCACCTACTTGGGAGGCTGAGGCAAGAGAATTGCTTAAGCCCA GGAAGCAGAGGCTGCAGTGAGCTGAGATGGCACCACTGCACTCCAATTTG AGCAACAGAGTGAGACTCCATCTCAAAAAAAAGGAAGAGAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGTGGGGAGGGAGGGAGGGA AGGAAGGAAGGAAAGAAAGAAAGAGAGAGAAAGAAGAAAGAAATAAAGAG AAAGAAAGGAAGGAAGGAAGAGAGAGAGGAAGGAAGGAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGCAAGCAAG CAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGCCGGGC ACGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCA GATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCT GTAATCCCAGCTACTGTAGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGTTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTCA GCGACAGGGAGAGACTCCGTCAAAAAAAAAAAAAAAAAGAAAGAAAGGAA GGAAGGAAGAAAGAAAGGGGCCCAAAGTCATGATGTCATCAGGCTCATCT CAGGACAACTCTTTCATTGACTTCCAGGTTTCGTTTTTATTACAAAGCCA CAAAGCATTAATAGGACAAAGGTAAAGAGAAAGTATTGCAGGCCGGGCGC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01192.hp1 HG01243.hp2 others(14): Show HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01884.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp1 HG02922.hp1 HG03098.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA19240.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0007 a0009 a0012 a0014 a0030 a0033	a0001c0001 a0002c0002 a0004c0004 others(6): Show a0001c0001 a0002c0002 a0004c0004 a0007c0024 a0009c0045 a0012c0013 a0014c0014 a0030c0040 a0033c0036	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(9): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0004c0004t0001 a0007c0024t0003 a0009c0045t0001 a0012c0013t0001 a0014c0014t0001 a0014c0014t0003 a0030c0040t0001 a0033c0036t0001	a0001c0001t0001g0072 a0002c0002t0001g0028 a0002c0002t0001g0040 others(14): Show a0001c0001t0001g0072 a0002c0002t0001g0028 a0002c0002t0001g0040 a0002c0002t0001g0053 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0004g0015 a0004c0004t0001g0037 a0007c0024t0003g0009 a0009c0045t0001g0052 a0012c0013t0001g0066 a0014c0014t0001g0056 a0014c0014t0003g0018 a0030c0040t0001g0060 a0033c0036t0001g0091	17	122	0.1393	-997	c.237 others(19): Show c.237-15915_237-14919del		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22						chr8	TogoVar
AKT3_chr1_243494724_243855243	243619448	AGGTCTTA others(989): Show AGGTCTTATTACAACTGTACTTCTGTACCTATTAATCAACTCCATCTCCC CATCCCCCTACCATTCCCAGCCTCTAGGAACAACCAATCTACTGTCTATC TTGATGCAATCCCGTTTTTTAGCTCCCACATAAGAACAAAAATGTGCAAT ATTTGTCTTTCTGTGCCTGGCTTATTTCACTTAACATAATGGGTTCCATT TCCATCAATGTTGCTGCAGATAACGTGATTTCATTCTTTTTATGGCTAAG TAATATTCCACTCTGTACATATATCGCATTTATCCTTTCATTCATTGATG GGCACTTAGGTTGATTACATATTTTGGCTGTTGTGAATAGTGCTGCAATA AACCTAAGGGTGTAGATGTCTCCCCGATATGATGATTTCCTTTGTTTTGG ATATATATATGGTAGTTCTATTTTTAGTTTTTGAGGAACTTTCATATGGT TTTCTATAGTGGTTATACTGATTTACATTCCCACCAACAGCATAGGAGAG TTCCCTTTAGCATCTGTGATTTTTTTGTTTTTTTGATAAAAGTCATTGTA ACTGGGGTGAGATGATGATATGGTTAGGTATCCACCCAAGTCTCATCTTG AATTGTAATCCCCATAATCCCTACATGTCGAGGGAGAGACCTGCTGGGAG GTGACTGGGATCAGGGGGCAGTGTCCCCCACGCTGTTCTTGTGATAGTGA GTGAATTCTTAGGAGCTCTGATGGTTTTATAAGTGTCTGACAGTTCCTCT TCACACACTCGCCCTTTCTTCGCCTGATACCACACAAGACATGCCTCTTC CCCCTTCCATCATGACTGTAAGTTTCCTGAAGCCTCCCCAGCCATGCAGA ACTGTGAGTCAATTAAACCTCTTTTCTTTATAAATTACCCAATCTTGGGC AGTTCTTTATACCAGTGTGAGAATGAACTAATACAGATGATATCACATTG TGGTTTTGATTTGCATTTCCCTGATGAGTAGTGATATGACACACTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(96): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00609.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02071.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18970.hp2 NA18974.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0029 a0001c0001t0033 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039	a0001c0001t0001g0065 a0001c0001t0001g0140 a0001c0001t0001g0141 others(96): Show a0001c0001t0001g0065 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0172 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0002g0229 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0280 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0011g0235 a0001c0001t0011g0236 a0001c0001t0019g0268 a0001c0001t0019g0269 a0001c0001t0020g0286 a0001c0001t0020g0293 a0001c0001t0023g0005 a0001c0001t0029g0151 a0001c0001t0033g0145 a0001c0001t0036g0029 a0001c0001t0038g0241 a0001c0001t0039g0270	99	301	0.3289	-996	c.562 others(17): Show c.562-5283_562-4288del		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	6/13						chr1	TogoVar
CACNG7_chr19_53904278_53948950	53921043	GCCCCAGG others(989): Show GCCCCAGGCCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGG AGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTG GTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCAT TGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGG TCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCTCAGGT CTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCC AGGCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATTGGTGGAGTTG CCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAG TTGCCCCAGGTCTGGTATTGCTGGAGTTGTCCCCAGGCCTGGTCATTGGT GGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATT GGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTC ATTGGTGGAGTCGTCCCCAGGTCTGGTCATTGGTGGAGTCGTCCCCAGGT CTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCC AGGTCTGGTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGTGGAGTTGC CCCAGGTCTGGTATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGT TGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGT GGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTG GTGGAGTTGTCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGT CATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGCC TGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGT	G G	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	364	0.0028	-996	c.424 others(17): Show c.424+5552_424+6547del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
DPH7_chr9_137549444_137583925	137565310	TGTCTGTG others(989): Show TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	340	0.0029	-996	c.641 others(16): Show c.641-1152_641-157del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
EIF3H_chr8_116637130_116760823	116678887	CCAGCCGC others(989): Show CCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGTCCCTCTG CCCGGCCAGCCTCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGAAGGTGGGGGGGTCAGCCCCCCGCCCGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGAAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02683.hp2 HG01169.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0116 a0001c0001t0001g0132	2	336	0.0060	-996	c.290 others(19): Show c.290-20903_290-19908del		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7						chr8	TogoVar
AHRR_chr5_316714_443285	391309	GGGCCAGA others(988): Show GGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCAG GGCCAGAGCGTGCATGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGG GCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGG CCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGC CAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCC AGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCA GAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAG AGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGA GCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGC GTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCG TGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGT GCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCC AGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCA GAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAG AGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAG GGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGG GCCAGAGCGTGCACGGGCGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGG CCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	268	0.0037	-995	c.351 others(19): Show c.351+14596_351+15590del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
DOK7_chr4_3458306_3499482	3490013	CTCCTGCT others(988): Show CTCCTGCTCATTCATTCCTTCCTTCTTCCTCCTACTCATTAATTCCTTCC TCCCCCCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCACCCCCA TTCATTCCTTTTCTCCCTGCTCATTCATTCCTTCCTTCCCCACCCTGCTC ATTCATTTCTTCCTCCGCCCCCCCCACTCATTCCTTCCCCCCTCATTCAT TCCTGTCTTCACCCCCTCATTCATTCCTTCCTTTTCTCCCTGCTCATTCA TTCCTTCCTTCCCCACCTTGCTCATTCATTTCTTCCTCCGCCCCCCCGGC TCATTCTTGCCTTACCTCCATTCATTCCTTCCTTTTCCCCACACTCATTC ATTCCTTCCTTCCCCCCACCCCCTGCTCATTCAGTCCTTCTTTCACCCCC CCCACCGCCCCGCTCATTCATTCCTTCATTTCTCTCCTGCTCATTCATTC CTTTCTTCTCCCTCTGCTCATTCATTCCTTCCTTTTCCCCCTGCTCATTC TTTCCTTCACCCCCCCGCTCATTCGTTCCTTCCTTCTCCCCCTGCTCATT CGTTTTTTCCTTCTCTCTCTGCTCATTCCTTCATTTCTTCTCTCCCTGCT CGTTCATTCCTTCCCTCTCCGCCTGCTCGTTCATTTCCCTCCTGCTCATT CATTCCTCCCTTCCCCGCATTCCTTCCTTCCTTCCCCCCTCATGCATTCC TTCATTTCCCCCCACTCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCC TTCTTTCCTTCTCCCCCGGCTCATTCATTCCTTCCTCTGCCCCCCCGCTC ATTCATTCCTGCCTTCCCCCCATTCATTCCTTCCTTCCCCCCCACTCATT TCATTCCTTCATTACCCTCCTGCTCATTAATTTCTTCCTTCTCTCCTCTG CTCATTCATTCCTTCCTTCTTCCCCTGCTCATTCATTCCTTCTCCCCCTG CTCATTTCTTCATTTCCCTCCTGCTCATTCATTCCTTCCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18975.hp1 NA18979.hp2 others(5): Show NA18957.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp1 NA19004.hp2 NA19007.hp1 NA19080.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0003 a0001c0001t0003 a0001c0012t0003	a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0216 others(1): Show a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0216 a0001c0012t0003g0014	8	404	0.0198	-995	c.772 others(16): Show c.772+242_772+1236del		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
EIF3H_chr8_116637130_116760823	116678863	GGGGGGGG others(988): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGTCCCTCTGCCCGGCCAGCCTCCCCGTCCGGGAGG GGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGAAGGTGGGGGGGTCAGCCCCCCGC CCGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCATCCGGGAGGAAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	336	0.0030	-995	c.290 others(19): Show c.290-20878_290-19884del		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7						chr8	TogoVar
NRXN1_chr2_49913503_51037132	50997409	AATCACAA others(988): Show AATCACAATTTCTTTAAATATGCAGGTTTTTAAAATTTTTTGATTAAAAT TTTCCAAAGGAAATAGCTCCAACTTTTAAATATTTGAAGGGGAAAACATT TTATTTTATTTATTTTATAGACAGGCTCTCACTCTGTGCCCTAGGCTGGA GTGCAGTGGCATGATCATACAGCATGGTAATCTGAAATTCCTGGGCTCAA GCCATCCTCCTGCCTCAGCTTCCTGAGTAGCTATGACTACAGGTGCACAC TACCACACCCAGGTAATTAAAAAAAAAAATTATCTGGAGACGGTTTTTGC TATGTTGCCCAGCTGGTCTGGAACTCTGGGCCTTAAGCAATCCTCCCGCC TCCACTTCCCAAAATGCTGGGATTACAAGAGTGAGCCATCACATCAGCCA CATTTTCATTTAGACAATTTAATTTGGAACAATTGGAGCAATGCTTCTGA AGGCCAACACATAATAAACACTCTTCCTTAAATATAATGTGGATTGATGA TACACTGGTAGGTATTTATATTTTGAAGTGCCATGATGAGTTCCGAATGT TTAGATAAGAAATAAAAAGGGAGGACTAGAGGAAGTGTACCCTCCAGAGA AGCCAAATTTAGTCTGGGAAATAGAAATAGGGTCAATGTCAACAGCAGCA AGATGACGACAGACCAATGGCTGTTTACACCAGAGTCTTTCCAGGTTTTC TGACAAGTTTTGTGTTACTTCATATCTTCCTTATTTAATCCTGGCCATTA ACTACAATACAGTACTAACATTTTAACTCAGCTATACAAACCCAAAACTT CAATAAGTTTATCAGAGACAATACTGATATGTTAAAAAAATTACTCACAA AACACATGCATACAGAATATAGTAATATCACATATTTTGCAACTGTGTCC ACAATTAAGACCTCCTGTACTAAGTAGAATGTCACTGCATATAGGGTATT GAAATACAGAAGCCATTTCTTGTGTAGCACCCAAGGAAAGTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG02074.hp1 others(31): Show HG00438.hp2 HG00738.hp1 HG02074.hp1 HG02109.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp1 HG03942.hp1 HG06807.hp1 NA18948.hp1 NA18975.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0012	a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 others(19): Show a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0033 a0001c0002t0034 a0001c0002t0040 a0001c0002t0045 a0001c0002t0047 a0001c0002t0049 a0001c0002t0050 a0001c0002t0054 a0001c0002t0065 a0001c0004t0007 a0001c0004t0038 a0001c0011t0015 a0001c0012t0041	a0001c0001t0013g0081 a0001c0002t0001g0080 a0001c0002t0001g0101 others(31): Show a0001c0001t0013g0081 a0001c0002t0001g0080 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0002g0076 a0001c0002t0002g0086 a0001c0002t0003g0079 a0001c0002t0003g0094 a0001c0002t0003g0099 a0001c0002t0005g0077 a0001c0002t0005g0083 a0001c0002t0005g0084 a0001c0002t0005g0103 a0001c0002t0006g0108 a0001c0002t0007g0089 a0001c0002t0008g0078 a0001c0002t0008g0091 a0001c0002t0010g0095 a0001c0002t0010g0106 a0001c0002t0033g0097 a0001c0002t0034g0098 a0001c0002t0040g0096 a0001c0002t0045g0087 a0001c0002t0047g0102 a0001c0002t0049g0082 a0001c0002t0050g0107 a0001c0002t0054g0092 a0001c0002t0065g0116 a0001c0004t0007g0090 a0001c0004t0007g0093 a0001c0004t0038g0085 a0001c0011t0015g0088 a0001c0012t0041g0100	34	116	0.2931	-995	c.772 others(19): Show c.772+29098_772+30092del		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	2/22						chr2	TogoVar
OR9Q1_chr11_58018881_58186616	58051195	AAATGTCC others(988): Show AAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACAC CATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAG GGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAA CAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAAT GAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGT GGGGTCGGGGGAGAGGGGAGGGATAGCATTGGGAGATATACCTAATGCTA GATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATATATAT GTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAAT AATAATAAAAAAAAAGAAAAAAAGGAAAAAAAAAAAAAAAAGAAACTACC ATCAGAGTGAACAAGCAACCTACAAAATGGGAGAAAATTTTCACAACCTA CTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAA TTTAGGAGAAAAAAACAAACAACCCCATCAAATAGTGGGCGAAGGACATG AACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAA AAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTA TGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGA AACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTG TTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGAT TCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTA CTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACACATG CACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(257): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0004c0004 a0005c0006 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0016 a0001c0007t0001 a0002c0003t0001 a0004c0004t0018 a0005c0006t0001 a0007c0009t0001	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0024 others(255): Show a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0185 a0001c0001t0002g0193 a0001c0001t0002g0206 a0001c0001t0002g0229 a0001c0001t0002g0247 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0320 a0001c0001t0003g0037 a0001c0001t0003g0144 a0001c0001t0003g0152 a0001c0001t0003g0238 a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0036 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0222 a0001c0001t0005g0083 a0001c0001t0005g0116 a0001c0001t0005g0207 a0001c0001t0008g0066 a0001c0001t0008g0067 a0001c0001t0008g0088 a0001c0001t0009g0062 a0001c0001t0009g0132 a0001c0001t0010g0027 a0001c0001t0010g0043 a0001c0001t0010g0053 a0001c0001t0010g0070 a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0015g0059 a0001c0001t0015g0060 a0001c0001t0020g0215 a0001c0001t0021g0270 a0001c0002t0001g0002 a0001c0002t0001g0031 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0165 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0233 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0308 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0319 a0001c0002t0003g0110 a0001c0002t0003g0164 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0187 a0001c0002t0003g0212 a0001c0002t0003g0226 a0001c0002t0003g0235 a0001c0002t0005g0002 a0001c0002t0005g0177 a0001c0002t0006g0287 a0001c0002t0006g0288 a0001c0002t0006g0289 a0001c0002t0006g0296 a0001c0002t0006g0297 a0001c0002t0006g0309 a0001c0002t0007g0284 a0001c0002t0016g0307 a0001c0007t0001g0084 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0115 a0002c0003t0001g0199 a0002c0003t0001g0305 a0004c0004t0018g0113 a0005c0006t0001g0236 a0007c0009t0001g0094	260	324	0.8025	-995	c.-92 others(17): Show c.-92-4672_-92-3678del		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
PXDN_chr2_1626887_1749515	1710588	TCTCCACC others(988): Show TCTCCACCAGCACCCACTCTCCACCAGCACCCACTCTCCACCAGCACCCA CTCTATGAACACCCACTCTCCACCAGCACCCGCTCTACCAGCACCCACTC TATGAACACCCACTCTCCACCAGCACCCACTCCACCAGCACCCTCTCCAC CAGCACCCACTCCACCAGCACCCACTCCACCAGCACCCACTCTCCACCAG CACCCACTCCACCAGCACCCACTCCACCAGCACCCACTCTCCACCAGCAC CCACTCCACCAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCTG CTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCACCCACTC TATGAACACCCGCTCCACCAGTACCCACTCTCCACCAGCACCCGCTCCAC CAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCAG CATCCACTCTACCAGCACCCGCTCCACAAGCACCCACTCTCCACCAGCAC CCACTCTCCACTAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACC CACTCTCCACCAGCACCCGCTCCACCAGCACCCACTCTCCACCAGCACCC GCTCCACCAGCACCCGCTCCACCAGCACCCACTCTCCACCAGCACCCACT CCACCAGCATCCACTCTACCAGCACCCGCTCCACCAGCACCCACTCTCCA CCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCGCTCCACCA GCACCCACTCTCCACCAGCACCCGCTCCACCAGCATCCACTCTACCAGCA CCCGCTCCACAAGCACCCACTCTCCACCAGCACCCACTCTCCACTAGCAC CCACTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCG CTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCATCCACTC CACCAGCACCCACTCTCCACCAGCATCCACTCTCCACCAGCACCCA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0026 a0002c0009t0026	a0002c0009t0026g0237 a0002c0009t0026g0237	1	322	0.0031	-995	c.201 others(19): Show c.201-18449_201-17455del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
UBOX5_chr20_3102573_3164865	3104405	TCTGAGTA others(988): Show TCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGGCTAATTTTT GTATTTTTTTTAGAGACAGGGTCTCCCTGTGTTGCCCAGGCTGGTCTCAA ACTCCTGGGCTCAAATGATTCTCCCTCCTTGGCCTCCCAAAGAGTTGGAA GTACAGGCGTGAGCCACCACGCCCGGCTGTTTTTTTTGTTTGTTCTATTT TGTTTCTTAAGGTAGTCAAATCTATCAGTCTTTTTCCTTACTGAATCTGA ATTTTTTTGTTTGTTTGTTTTAGATGGAGTTTTGCTCTGTCGCCCAGGCT GGAGTACAGTGGTGCCATCTCGGCTCCCTGCAACCTCTGCCTCCTGGGTT CAAGTGATTCTCCCACGTCAGCCTCCTGAGTAGCTGGGATTACAGGCACC CGCCACGACGCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTGGCCAAGGTGGTCTCTAACTCCTGACCTCAGGTGATCCGCCCAC CTTGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCATCTGGC CTGGATTTTGAATTAGGACAGTTTTCCTCACTCCCAGGTTGCGAAGGAGT TCTCTCGTTTTCCATTTATCTCTAGTTCTTCCATGGTTTCATTCGCCCAG TGACTGCAGCGCCACCTGTGGAAAGGTCAGTTTTCCACCATTCCTGCCTT GCAGTACACAAAATTTCCATGTGTAGTTGGGCCTGCCTATGGGTTTTTCA TTCTGTTCTGTTCATCTGCCTGTGTATTCGTGGGTTAGTTCTCCCCACCC ACAAACCAAACTGTTCTTTTTCAGAGTTTTCCTGGCTACCTTGACTTATT CTTACAAATGAGCTTTATTTTTATTTTTTTTTGAGATGGAGTTTTGCTCT TGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCCTGGCTAGTGAGATCACT TGAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0051 a0001c0001t0008g0051	1	384	0.0026	-995	c.47 others(11): Show c.4706_*5700del		UBOX5	ENSG00000185019.17	transcript	ENST00000217173.7	protein_coding					3167		chr20	TogoVar
ACAP3_chr1_1287391_1312930	1288558	TCTGCTCC others(987): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTT CCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0098 a0002c0006t0005g0098	1	295	0.0034	-994	c.40 others(11): Show c.4012_*5005del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3832		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33563139	GCAGAGAT others(987): Show GCAGAGATGATGTATGACACATTCAATTCATGTTGATCCTCAGCACCTAA CACAGGGTCTGGCATATAGTAGATGCTAAGGGAATCTTTATTGAATATGG TCTTAGAAGCTGAGGGAAACAGAAAGGGAAGGTCCATGGTAACATAGGAG AGGATTAAGAATAGACTAACCTCACTAAGGAGGCAGGAGGGAAGGAGATC CAGAGACTGGTGGAGGGATTAACCATGGGCTGGGAGAGAGATTCTTCTAC TGAGGTGGGAGAGAAGGGGCAAGGATGGATGTACACAGAGCAGATGTGTG GGTGGGGAAGCTGAAAGTAGGAGAAGCTATTTTCTGATGGCTTCTATCAT CTCTGCAGAATAGAAAGTGATATTATATGATTAGCTAACAATTGTTGGGG CTCGCAGTCATTGTCTCACTTAATCCTCACAACCCTATGAGGTAGGCACC ACCACTATACCCACAGAAAACAGAATTTCAGAGGACTCAAGATATTTGTT CAAGGGTCACAGTTTCTAAATGTCTCATCTGAATTTTGAACCCAGCTTCT CTGATTCCAGGCCATCTTAACTGTTTAACTTAGTTATTTGCTGAGAACGT AGGTAGGGGCGATGGAATATAAGTCTTCAGAAAGGAGGCAGAATTGTCAA ACAGCTGTATGGAGAAAGGGCAAGGGAACTGACTGAGGAAATGAAGAGGA CAGCTGGAAAATTTTGAGAGTCTGGTTGACATTGGAAACCTTGACTTTGT ATGTACTGGCAGCTAACACAGTGCTTAGCACAGAGTAAACACTTACAAAT ATTTGTTCTTTTATTCTTGCTTTCCTCCTCCAGATAATTCCCAAACCTCT GTGCTCCAAGAGAGAATGGGCCTTAGTGTAAGAGATCCTGGATTCTGTAA TGTGATGGTGGCAGCATTACTACCACCACTACCATCATCTTCATCATCAT CATCATCACACAACAGCAGCAGCAGCAGCAGCAACTGCTGCTTAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0021 a0005c0015t0001g0021	1	66	0.0152	-994	c.838 others(19): Show c.8380+3460_8381-3667del		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	53/70						chr1	TogoVar
FAM104A_chr17_73202365_73237394	73220550	TTCTCCTG others(987): Show TTCTCCTGCCTAGGCCTCCTGAGTAACTGGGACTCCAGGCATGCACCACC ACGCCCAGCCAATTTTTGTATTGTTAGTAGAGACGGGGTTTCACCATGTT GACCAAACTGGTGTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCTGT CTCCCAAAGTGCTGGGATTATAGACATGGCCCGGCAGCCACTTCTGTTTT ATCTCCACATTTTTTCACTCTCTATCTGATATTACTTCACACTGGTCTAA AAAATCAAAATGGTCTTGTTAAGCTAAGTTAAAGGTATTAAAAAAAATTG AGGTCTTTGTACTTTTAAAAGGTATTGCTTTTTTTTTAATTTAGATTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGTCTGGA GTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTCCAA GCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACGCGC CACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTTG GCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGGGCCCCAGCCAA ATTTAGATTTTAATTTCTTCCCTCCTAAGGATGAGAAGATACTGCTTTTA TTTACTCAAGTAGAAGCACTTTTTACAAGGCATATACCTAGGTAACAGAA GCTAGATTTACACAGAAACTTCTAGTGTAATTTGTAGATAAAGATATTAA AACTGAAAGTAAAGAACATTACTCCTTCTACATGTAAATAATAGAATTCA ACCTAAAAAGACTAGACCCTAAAAAAAAAATTTAAGTTAAATCTAAGTAG TTTTTACCCATCCAAATAGTTGCCCAAGATCAGGATTTGATAGAAAAAAA TTGATAAAATCATTTCACTTCTTGCTCAGTGAAGAGAAAACTGAG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01891.hp2 HG02055.hp1 others(9): Show HG00733.hp2 HG01891.hp2 HG02055.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(9): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0165 a0001c0001t0001g0166	12	400	0.0300	-994	c.321 others(17): Show c.321+5621_321+6614del		FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3						chr17	TogoVar
MPPED1_chr22_43407014_43512848	43476648	GTGGGGAG others(987): Show GTGGGGAGGTGCAGGGCTGTCTCATCTTCCCTGGCCTCGGCAGGTGCCTG CTGTCATCTCCCTGGACTTCACGATGTACAGGGTCTTGGTGAACCCTCCC TGCAGCCAGTGAGGTCCCAGACAAGGACCTCTGGGCACTTGAGGATGTGA TGAGGTCAGTACCAAGGACAAGGAGAGGAGGGGAGGTGGCTGAGTCTGCC TCACCGGCCACTAGAGCTCAGATCTGGAGAAGTCTGATAGGCCAAAAACC AGGAGGGCCGTCTAGAAGGAGGACCCAGCAAGCTTTCCCCTTGACCCCCC TACCAGCCAGGTGCACACACACAGCCTGTGCCATGCCAGGGAGTGGGAGA AGCCGAAGGACAGAGAAGGGAACTCGAGCCCAGGAGGTGGGTTCAGGGGC CCTGCTACCCTGCTCCAGAAGGGGTTTGGTGAGATCCAGGAGGGCTCCCT GTTGGAGGGGGCATTTGAACTGGGGCCAAAAGAGGCATGAGATTTCCACA GGCAGAGGAGGCAGAGGGAGACCACATGTCTGAACCTCTGTTATGTGTCA GGCCCTGTGCCAGGCTCTTCTTGGGCCTGTCACTTGACAGCCCTTAACAC AAGGGCTGAACGCCCCCTCTCTCCATCCCGCAAGGGAGGCTGTGAGCTGG TGCTCCTCCTGTTCCTCTCAGGCCCTGTCTGGGGCTGGGAGCAGGTGGTG GAGGTGAGACCTGGGCTCATTTGTTGGGCAAGTTTCACTCAGTTTCCAAC CGGGGTGAGCAGATTGCCTGCGTCTGCTGCTGTGGTGCCACGGAATGGAT GCCAAGCCACTCTGGCCGCTACCCTCCCCTGGGAGGCTGGGTCCCTGCCA CCATGCCCCAGCAGAGAGTGTCTGGGAAACCCCTGGGCTGCCCTGGTTGG TGCCACATGGTGGCCACCTGGCGGCTGGAGGCTGTGGGCAGATTTAGGAC CTGGTCTCATCTTGCCACGGCCTCCTCATGGAGCAGAGGGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0213 a0001c0004t0022g0213	1	250	0.0040	-994	c.632 others(17): Show c.632+1813_632+2806del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
SCNN1D_chr1_1275436_1297025	1288558	TCTGCTCC others(987): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTT CCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	290	0.0035	-994	c.166 others(17): Show c.1662+534_1663-707del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
BRSK2_chr11_1384934_1467689	1429906	TCAGCAGT others(986): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01069.hp2 others(28): Show HG00423.hp2 HG00558.hp2 HG01069.hp2 HG01071.hp1 HG01346.hp1 HG01934.hp1 HG01993.hp1 HG02040.hp1 HG02132.hp1 HG02602.hp2 HG02738.hp2 HG03492.hp1 NA18939.hp2 NA18940.hp1 NA18950.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18993.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19054.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19083.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0012 a0002c0002t0017 a0002c0002t0033 a0002c0002t0038 a0002c0002t0039 a0002c0002t0054 a0002c0002t0066	a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0123 others(27): Show a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0267 a0001c0001t0003g0272 a0001c0001t0025g0147 a0002c0002t0002g0133 a0002c0002t0002g0140 a0002c0002t0002g0149 a0002c0002t0005g0211 a0002c0002t0005g0259 a0002c0002t0005g0260 a0002c0002t0005g0281 a0002c0002t0005g0283 a0002c0002t0007g0302 a0002c0002t0007g0346 a0002c0002t0007g0350 a0002c0002t0007g0351 a0002c0002t0012g0006 a0002c0002t0012g0347 a0002c0002t0012g0348 a0002c0002t0012g0349 a0002c0002t0017g0305 a0002c0002t0017g0353 a0002c0002t0033g0286 a0002c0002t0038g0297 a0002c0002t0039g0344 a0002c0002t0054g0322 a0002c0002t0066g0285	31	360	0.0861	-993	c.92- others(15): Show c.92-6064_92-5072del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431512	CCAGCAGT others(986): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02273.hp1 HG06807.hp2 HG01993.hp2 HG02273.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0004 a0001c0016t0018 a0001c0001t0004 a0001c0016t0018	a0001c0001t0004g0175 a0001c0001t0004g0180 a0001c0016t0018g0183 a0001c0001t0004g0175 a0001c0001t0004g0180 a0001c0016t0018g0183	3	360	0.0083	-993	c.92- others(15): Show c.92-4340_92-3348del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
CAMK1D_chr10_12344547_12840545	12775127	AGGTGAGA others(986): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	214	0.0047	-993	c.565 others(17): Show c.565+5330_565+6322del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP46_chr10_132803392_132947570	132820911	TGTGCTGA others(986): Show TGTGCTGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGCTGATG TGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTGT GTGTGCTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGTGCTGTGTGC TGTGAGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGCTTTGTGTGTGCT GATGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGAGTGCTGATGTGTG CTGTCTGTGCGCTGATGTGTGCTGTGTGTGCTGTGTGAGTGCTGATGTGT GCTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGTGTGCTGTGTGAGC GCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGTGTGTT GTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGTG TGTGCTGTGTGCTGTGTGTGCACTGATGTGTGCTGTGTGTGTGCTGTGTG CTGTGTGAGCGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGT GCTGATGTGTGTTGTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGCG CTGTGTGCTGTGTGCTGATGTGTGCTGATGTGTGCTGTGTGCTGACGTGT GCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGTGC GCTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGAGTGCTGATGTGTG CTGTGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGAC GTGTGCTGTGTGCTGACGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTG TGTGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTTGTGTGAGTG CTGATGTGTGCTGTCTGTGCGCTGTGTGCTGTGTGAGCGCTGATGTGTGC TGTGTGTGCTGTGTGCTGTGTGTGCAGTGATGTGTGTTGTGTGA	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0073 a0073	a0073c0108 a0073c0108	a0073c0108t0002 a0073c0108t0002	a0073c0108t0002g0094 a0073c0108t0002g0094	1	246	0.0041	-993	c.711 others(19): Show c.7118-6990_7118-5998del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57						chr10	TogoVar
GAL3ST2_chr2_241771822_241809287	241806419	CTCCCTCC others(986): Show CTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	314	0.0032	-993	c.22 others(11): Show c.2254_*3246del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2133		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806511	GCCCAGGG others(986): Show GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0055 a0001c0009t0001g0058 a0001c0009t0001g0055 a0001c0009t0001g0058	2	314	0.0064	-993	c.23 others(11): Show c.2346_*3338del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2225		chr2	TogoVar
KALRN_chr3_124028369_124731325	124367329	AGAGGGGC others(986): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGTGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGTTGGGGGGCTGACCGCCCCCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGTCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC TTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGC CAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGCACGGCTGGC CGGGCGGGGGGCTGACCCCCCACACCTCCCTCCCGGACAGCACGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGCCG GGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02896.hp1 others(3): Show HG02559.hp1 HG02615.hp2 HG02896.hp1 HG02897.hp2 NA18522.hp1 NA18906.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0008 a0001c0062 a0001c0063 others(2): Show a0001c0008 a0001c0062 a0001c0063 a0002c0064 a0005c0077	a0001c0008t0004 a0001c0062t0019 a0001c0063t0003 others(2): Show a0001c0008t0004 a0001c0062t0019 a0001c0063t0003 a0002c0064t0034 a0005c0077t0001	a0001c0008t0004g0021 a0001c0008t0004g0022 a0001c0062t0019g0074 others(3): Show a0001c0008t0004g0021 a0001c0008t0004g0022 a0001c0062t0019g0074 a0001c0063t0003g0088 a0002c0064t0034g0085 a0005c0077t0001g0061	6	116	0.0517	-993	c.177 others(21): Show c.1771-17502_1771-16510del		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	10/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
NEU4_chr2_241804193_241822413	241806419	CTCCCTCC others(986): Show CTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0148 a0002c0003t0002g0148	1	319	0.0031	-993	c.-28 others(11): Show c.-2858_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2773		chr2	TogoVar
SLX9_chr21_44935029_44981973	44950882	CTGTGGGT others(986): Show CTGTGGGTTTATCCTCATAGAACTTTGAGCACAGAGACTGGCCCAGGCGG GTGTGGGCTGCACCTGTGCCTGAGGATCACGGTGACTCCACCTGGTCCCT GTCCTGGAGCACGTGGCGGCGACTGGGTACACGTGTCGTGGGCACAGTGC AGCAGGCTAAGCCTTCATCGGATTAAAGTCGCCGGTTTGATTTAAAGGCC TTAAAAATGGTTTAAACACACAGCAGCAGCAGAACACACAGGAGAAGATT CCTCTGGGCTTGGCCAGCCTCTTCTGTGCCTGTGTCTCATGGCCTGGCTC CTGTTCACTCAGGTTGAGATGAAACCGTGGCTGCTGCCATACTGGGCGCA GAGGAGGCTCCCATCTCCTGGTGGCGCTGAAGCCCACAGCCATCCAAGGG ACCAACATCTTGCAGCATCGCGCAGGGAGGTAGGAGAGAGGCAGGGAAAG TGGGCATGGATGGCCCTGGCTTGCTGCACAGCCTGGGAGGAAGCAGGGGG ACAGGCTGTGGATGTGGCCCTTGCCGGTCCTGTTCAAGTCCCAGCTCTAC CATCTGGATCCAGGGGCTGAGTCCTCAGCGCACGGGGCGAACGGCCGCGT CTTTGCCCACCGTGCCTCACTCACTGTCATGCCTGTGGCTGAGACTTGAA GGTTAGGGATCAACTTTTACCTAAAATTACTTCTGTAGAAAATAACATTT CATGATTGAGAAAGCAGCGCGTATGCACACATTGCAGAATAGACAAATAC GCAACATTGGGAGATAAAAGCCAGGCCCTGCCCCCGGAGCCGCCCGAGCG CGCTGTGTGGGCACCATCTCTCACTGCCCGAGGGCACTGTGTGGGCACCA TCTCTCGCCTACAGGTGTTCTCGCCCAGGCCTGCTGCACGTGCCAATCAC TAACCGGGGCGGGGCATCTCAGGAAAGGCCCTTAGCTAGCAGTGTCTTCA GGAGCCCTTGCTGCTCTTTGTCCGAGCAGGGTTCGCCCGTCGTG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	334	0.0030	-993	c.283 others(17): Show c.283+7360_284-7911del		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
TAF4B_chr18_26221445_26396685	26222528	AATTTTTG others(986): Show AATTTTTGTATTTTTTGTAAACATGGAGTTTCGCCATGTTGGCCAGGCTT GTCTCAAACTCCTGGCCTCAAGTGACCCACCCTCCTCAGCCTCCCAAAGT GTTGGCATTACAGGCATGAGCCACTGAGCCCAGCCTGACTGATGTATTCT TTATTGCCAAGCTCATAGTAAGCACTCAATACGTATTACATAGATGAATG ACTGAAGGTAGGTAGGGAGGAGAGGTTTTTGAAAATAATATAATTCAAGA AAATTGGTGTTATAATACAAAGTATAAAATCCTGTGTTTGCAGAATCTTT TACAAAAGAAATACTATTTTTGGGATTTTTGGCTTCTTAAACAGTCTTAT TACTTTTTCCACACTTAATGTGAAGTGAAAAGAAATGATTACTCTCACTG AGAAAATAGCCTGTCTTCTTAGGTTAAGACAGTATTTGTAATAAGTTTCA GCTTGGCATAGCTTCAGCAAGCTACCATATTTGTCCAGGTTCATGAGATC CATTAAAGGTACTTGGATGCTATGTTGAGGAGACTGGAGAGTATTTAGCT GTGCTTACAGATTTCAATTGTCACTAAGAATATATATTTTAAGAAAAAGC TTGTTTTAATTTTGGATTATGCAAATAAGACGCATTCACTGTAGGAAAAT TAGAAAATGCAGAGAGACAAAAACTATCACTTGGAATGTCTCTAAATAGA AATATCTTCCATTAATAGTTTTGTGTGTAATCTAATTTTTTATGAGTATC TGTTTATTGGTTAATAATTGTTTTTTTCTTTTGAGATGGAGTCTTGCTCT GTCACCTAGGCTGGAGTGCAGTGGGACGATCTCAGCTCACTGCAACCTCT GTCTTTCAGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAATTAGATGGG ATTACAGGTGTGTACCACCAAGCCCAGCTAATTTTTGTATTTTTAATAGA GAGGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	274	0.0037	-993	c.-44 others(11): Show c.-4405_-3413del		TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding					3916		chr18	TogoVar
AHRR_chr5_316714_443285	357702	GGGAAGAG others(985): Show GGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAG TGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCGTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCAAGTG GAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01109.hp1 others(7): Show HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG02683.hp2 HG04204.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0002c0002t0019 a0003c0004t0004 others(2): Show a0002c0002t0001 a0002c0002t0019 a0003c0004t0004 a0003c0004t0012 a0003c0004t0028	a0002c0002t0001g0010 a0002c0002t0019g0007 a0003c0004t0004g0002 others(5): Show a0002c0002t0001g0010 a0002c0002t0019g0007 a0003c0004t0004g0002 a0003c0004t0004g0005 a0003c0004t0004g0009 a0003c0004t0004g0011 a0003c0004t0012g0001 a0003c0004t0028g0006	10	268	0.0373	-992	c.244 others(17): Show c.244+3879_244+4870del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358136	GGGAAGAG others(985): Show GGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGG AGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCAAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAG TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTG GAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02886.hp1 others(4): Show HG01099.hp2 HG01891.hp1 HG02886.hp1 HG03139.hp1 HG03486.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0022 a0001c0001t0027 a0001c0001t0050	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 others(4): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 a0001c0001t0013g0154 a0001c0001t0022g0238 a0001c0001t0027g0153 a0001c0001t0050g0155	7	268	0.0261	-992	c.244 others(17): Show c.244+4301_244+5292del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
EIPR1_chr2_3183970_3382818	3295577	CCTCCATC others(985): Show CCTCCATCCAGCCCTCCTCTCTCTGCACACCCTCCATCAAGCCCATCCTC TCTACATACACACACCCTCCATCCAGCCCGTCCTCTCTACTCACACACAC CCTCCATGCAGCCCTCCTCTCTCTGCACACCCTCCATCAAGCCCATCCTC TCTACATACACACACCCTCCATCCAGCCCGTCCTCTCTCTGCACACACAC CCTCCATCCAGCCCATCCTCTCTACAAACACGCCCTCCATCCAGCCCATC CTCTCCCTGCACACACACACCCTCCATCCAGCCCATCCTCTCTCTGCACA CACCCTCCATCCAGCCCATTCTCTCTTTACACACCCTCCATCCAGCCCAT CCTCTCCTTGCACACACACACCCTCCATCCAGCCCATCCTCTCTCTGCAC ACACACCCTCCATCCAGCCCATCCTCTCTCTACACACCCTCCATCCAGCC CATCCTCTCTACTCACACACACCCTCCATGCAGCCCTCCTCTCTCTGCAC ACACACCCTCCATCCAGCCCATCCTCTCTACACACACACCCTCCATCCAG CCCATCCTCTCTGCACACACACACCCTCCATCCAGCCCCTCCTCTCCCTG CACACATACACCCTCCATCCAGCCCATCCTCTCTACACAGACACCCTCCA TCCAGCCCATCCTCACCACACACAGACACCCTCCATCCAGCCCATCCTCA CCACACACAGACACCCTCCATCCAGCCCATCCTCTCTACACACACACACC CTCCATCCAGCCCGTTCTCTCTCTACACACACACACCCTCCATCCAGCCC ATCCTCTCTCTGCACACACACACCCTCCATCCAGCTCACCCCCTCTGCAA ACACACACCCTCCATCCAGCCCATCCTCTCTCCACACACACACCCTCCAT CCAACCCATCCTCTCCACACACACCCTCCAACCAGCCCATCCTCTCTACA CACACACCCTCCATCCAGTCCATCCTCTGTATACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	250	0.0040	-992	c.260 others(19): Show c.260-39114_260-38123del		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
P2RX5_chr17_3668227_3701155	3686408	GGGGCCCC others(985): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGC ACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGC CCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAG GAGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCC CGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTC CCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCT	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	362	0.0028	-992	c.981 others(16): Show c.981+612_981+1603del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686637	TCCCCCGC others(985): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACA CAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCC CCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAA CACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAAC GTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACAC ACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACA GCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAG GAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCC CGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCT GGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAG AACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	362	0.0028	-992	c.981 others(16): Show c.981+383_981+1374del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740869	GACAGTGA others(985): Show GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAAGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAAGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAAGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0022	2	445	0.0045	-992	c.-20 others(11): Show c.-2043_-1052del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					2001		chr17	TogoVar
SMOC2_chr6_168436184_168672992	168572257	CGGGACCA others(985): Show CGGGACCAGGGCTGCGTGCTCCCTGAACGCAATGTTCACTTTCTCCCCGC ATCCCCGGGTGCCGGGACCAGGGCTGTGTGCTCCCTGAACGCGATGTTCA TTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGA ACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTG CGTGCTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCG GGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCAT CCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCACT TCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGTGTGCTCCCTGAAC GCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCG TGCTCCCTGAACGCGATGTTCATTTCCTGCCCGCATCCCCGGGTGCTGGG ACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTGCCCGCATCC CCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTC CTGCCCGCATCTCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAACGC GATGTTCACTTCCTCCCCGCATCCCCTGGTGCCGGGACCAGGGCTGCGTG CTCCTTGGACGCGATGCTCATTTCCTCCCCACATCCCCGGGTGCTGGGAC CAGGGCTGCGTGGTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCC GGGTGCGGGGACCAGGGCTGCGTGCTCCTTGGACGCGATGCTCATTTCCT TCCCACATCCCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAATGCGA TGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCT CCTTGGACGCGATGCTCATTTCCTTCCCACATCCCCGGGTGCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0042 a0001c0008t0002g0042	1	180	0.0056	-992	c.637 others(19): Show c.637+23072_637+24063del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
WDR81_chr17_1719704_1743585	1740869	GACAGTGA others(985): Show GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAAGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAAGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAAGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	431	0.0023	-992	c.31 others(11): Show c.3185_*4176del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					2285		chr17	TogoVar
CPE_chr4_165374008_165503547	165396975	GGCTTGAG others(984): Show GGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCACAGCACTG AACTCCAGCCTGGGTGATAGAATGAGACCTTGTCTCAACAAATAATAAAA ATTAAAATAAAAATAAGAAAGTGAAGCCAACTGAAAACAAAAAGTATTAA AACACAGAGAAAGTTAGAAAATAAAGTTTAAAGATGAAATAGAAAGGCCA AGGAAAAATGTTTAAATGTTGTGGAGAGAATATGAATGTACTATATATTA TTGCTCACCCTTAAATAATGCTTGGTATATGCCAAGTGATGTTTAAAGGC ACGACTTACCCACATATCCCTTATGGGTTTGGTACTATAATTATCCCCAT TCTATAAATTAGGAAACTGAGGCCCAAAGAGATTAAATGATTTATTTAAC ATCACAGGTTTGTAAGTGGCAAAACCAAGATTAGAATATACATGTATATA TAGCTACATTCTTAAATACGCAATTCGGTATATTAGACACCTATTTATTT TGTCTTCCTGCCTTCTGATATTAGCTCCTCTCTTCCCTTCTTGGGGAAAT GTTCCTTCTTACCATGTGACTTGAGTGGAAGATGTTGCCATGTTCTTAGA CACTCTCTTTCCATGCTTTCAAAGTAAGCATCCTTTCTACCATCTTATCT TGATTATACAACGTATTTCCAAATATTATTTTAGATTCTCTGCATTTTCA TCAGATAAAACAGGATTATCTCCCTTTTATAGGACAAATAATCATTTCCA CTTAAAAATGGAGCTGTATTAAAAACAAGCTTTTGGCCAGGCATAGTGGC TCATGCTTGAAATTTCAGCACTTTGGGAGGCCAACGTGGGAGGATTGCTT GAGGCCAGAAGTTTGAGACCAGTCTGGGTGACATAGCAAGACCGTGTCTC TACCAGAAAAAAAAAAAAGAAAGAAAAATTAGCCAGGCATTGTGGTACAT GCCTATAGTCCTGGCTACTCCAGAGGCTGAGGTGGGAGGATT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	332	0.0030	-991	c.307 others(19): Show c.307+17463_307+18453del		CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
HCN1_chr5_45249948_45701380	45664424	ATGTGCAC others(984): Show ATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAGA AAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACAAAATG GGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCAGAA TCTACAATGAACTCAAACAAATTTATGAGAAAAAAACAAACAACCCCATC AAATAGTGGGCAAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTA TGCAGCCAAAAAACACATGAAAAAATGCTCACCATCACTGGCCATCAGAG AAATGCAAATCAAAACCACACTGAGATACCATCTCACACTAGTTAGAATG GCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGA AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCAT TGTGGAAGTCAGTGTGGCGATTCCTCAGGCATCTAGAACTAGAAATACCA TTTGACCCAGCTAACCCATTACTGGGTATATACCCAAAGGACTATAAATC ATGCTGCTATAAAGACACATGCACACGTATGCTATTGTGGCACTATTCAC AATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGA TTAAGAAAATGTGGCACATATTCACCGTGGAATACTATGTAGCCATAAAA AATGATGAGTTCATGTACTTTGTAGGGACATGGATGAAATTGGAAATCAT CATTCTCAGTAAACTATCGCAAGGACTAAAAACCAAACACCACATGTTCT CACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGG CACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATA GCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCAC ACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0217 a0001c0001t0025g0217	1	226	0.0044	-991	c.426 others(19): Show c.426-19807_426-18817del		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	1/7						chr5	TogoVar
MND1_chr4_153339688_153420118	153342503	CCTAGCAC others(984): Show CCTAGCACTTTAGGAGGCCAAGGCGGATGGGTCGCCTGAGACTGGGAGAT CGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACA AAGATTAGCCGGGGGTGGTGGTGGGCGCCTATAATCCCAGCTACTCAGGA GGCTGAGGCAAGAGAATCGCTTGAACCTAGGGGTTGGAGGTTGCAGTGAG CCAAAATCATGCCACTTCACTCCAGGCTGGGCAAAAGAGCGAAACCCCAA CTCTAAATAAATAAATAAGCTGCTCCTATAGGTCATGCTTTTCAGAATGT CAAGGAAGGGGCATCAGAAGGTTATCTGAAGTTTAAGGTATTTGTACTGA AAATGCAAAGGAACCAGAGGCAGTAGAATGTGTCTTCTTTCCTAGGTGGC GGTGATTCCCAGGTCTGGTTGATCAAGACTGCAATGCACAACAGGAACCT CAGAGAACTGTCACAGCAGCTCTCAGTGACACTTAGGATACAGATGCAGC TTAAGTGACCCTTTTTTATATCCATTTAGCACTCATTTTTCCCAAAAGAA GACCTGTTTGGGTCAATTTGTTACTGTCCCAGGGCAGGCTTTTGCACTGT GTCGCTTTAGAGGCAGGGGCGGAGGAAAACTTGGGACTGTAACATCAGTA CTGCACAAAGCCCTCTTCCGTATACAGCATAAGCACTATTCTATAAAATC CCCAGCAAGCCTTTGTTTCCTTGCAGTCAGCTCCTTTTCTGCTGATTCTG CCCATTGCTCCCTTGCAACGTATTTTCATGCTTTCTCTAATGATTCTGCC TTTCTTTACTTACAACTGCCTTGGTAAATTTTTCTGCCACAGCGCCACTG GCCTCAGATAGTCACCACTCACCTGCAACAAGCCTGAGAGCCAATTAAGA CAAGGCTTTCCCCAAGTAGCACAAATGTATATACCACTACTGTAGTTACT TAATGTACTCATTTATCATTTTAAAATTACCTTATGTACCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0117 a0001c0002t0003g0117	1	342	0.0029	-991	c.-22 others(11): Show c.-2234_-1244del		MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding					2184		chr4	TogoVar
MUC5AC_chr11_1152953_1206138	1154865	CACCCACT others(984): Show CACCCACTCACTTATTCACTCACTCACCCACTCACTTATTCACCCATTCA CTCATTCATTCACCCATTCACTCACTCACTTATTCACTCACTCTCTCACT CATTCATTAATTCGCCCATTCACTCACACTTTCACTCACTCACTTATTCA CTCATACACTCATTCACTTATTTACTCACTCATTCACTCACTCATTAATT CACCCATTCACTCACTCACTTATTCACTCATAGACTCATACACTCACTCA TTCACTCACGCATCCACTCATTCACTCACTCATTTACCCACTCATTCACT CATTCACTCACTCACTCATTTATTCACCCATTCACTCACTCATTCATTCA CTCACTCACTGACTCATTGACTCATTCCCTCACTCATTCACCCATTCACT TACTCATTCACTCACCCATTTATTCACTCACTCACTCATTTACTCATTCA TTCACCCATTCACTCACTCACTGACTCATTGACTCATTCACTCATTCACC CATTCACTTACTCACTCACTCATTTACTCACTCATTCATTCATTGACTCA TTAACTCATTCACTCTCTCATTCACTCACTCACTGACTCATTAACTCATT CACTCTCTCATGCATCCACTCATTCACTCACTCACTGACTCACTCATTCA CTCACTCATTGACTCACTCATTTGGTTATTCACTCATTCACTCACTCACT GACTCATTCACTCACTCATTCACTGCTCACTTATTCACTCTTTCACTATC TCTTTCATTCACATTCATTCATTAACTCAGTCACTCACTCATTCACTCTC ACTCATTCACTTACTCATTCACTCATTCACTCATCTATTCATTCACTCAT TCACTCACTCATTCATTCACCCATTCACTCATTCATTCACCCATTCACTC ACTCACTTATTCACTCATAGACTCATACACTCACTCACTCATTGACTCAC TCACTCATTCACTCATGCATCCACTCATTCACTCACTCATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02015.hp2 HG02040.hp2 others(21): Show HG00558.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18964.hp2 NA18970.hp2 NA18982.hp2 NA18990.hp1 NA19007.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19084.hp2	a0001 a0023 a0057 others(2): Show a0001 a0023 a0057 a0061 a0067	a0001c0001 a0001c0016 a0001c0027 others(5): Show a0001c0001 a0001c0016 a0001c0027 a0001c0064 a0023c0026 a0057c0052 a0061c0058 a0067c0068	a0001c0001t0001 a0001c0016t0001 a0001c0027t0001 others(5): Show a0001c0001t0001 a0001c0016t0001 a0001c0027t0001 a0001c0064t0001 a0023c0026t0001 a0057c0052t0001 a0061c0058t0001 a0067c0068t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0016t0001g0013 a0001c0016t0001g0221 a0001c0027t0001g0011 a0001c0064t0001g0161 a0023c0026t0001g0011 a0023c0026t0001g0162 a0057c0052t0001g0166 a0061c0058t0001g0222 a0067c0068t0001g0160	24	292	0.0822	-991	c.-31 others(11): Show c.-3134_-2144del		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding					3087		chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79919884	GAGGAGAG others(984): Show GAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAG AGGTCAGGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAG ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGG GAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGG TCAGTGGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAG AGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAAC CGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGA ACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAG TGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACA GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03492.hp2 HG03704.hp1 HG03471.hp2 HG03492.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0009g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0009g0178	3	352	0.0085	-991	c.392 others(16): Show c.392-1475_392-485del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
TRIM2_chr4_153199443_153344317	153342503	CCTAGCAC others(984): Show CCTAGCACTTTAGGAGGCCAAGGCGGATGGGTCGCCTGAGACTGGGAGAT CGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACA AAGATTAGCCGGGGGTGGTGGTGGGCGCCTATAATCCCAGCTACTCAGGA GGCTGAGGCAAGAGAATCGCTTGAACCTAGGGGTTGGAGGTTGCAGTGAG CCAAAATCATGCCACTTCACTCCAGGCTGGGCAAAAGAGCGAAACCCCAA CTCTAAATAAATAAATAAGCTGCTCCTATAGGTCATGCTTTTCAGAATGT CAAGGAAGGGGCATCAGAAGGTTATCTGAAGTTTAAGGTATTTGTACTGA AAATGCAAAGGAACCAGAGGCAGTAGAATGTGTCTTCTTTCCTAGGTGGC GGTGATTCCCAGGTCTGGTTGATCAAGACTGCAATGCACAACAGGAACCT CAGAGAACTGTCACAGCAGCTCTCAGTGACACTTAGGATACAGATGCAGC TTAAGTGACCCTTTTTTATATCCATTTAGCACTCATTTTTCCCAAAAGAA GACCTGTTTGGGTCAATTTGTTACTGTCCCAGGGCAGGCTTTTGCACTGT GTCGCTTTAGAGGCAGGGGCGGAGGAAAACTTGGGACTGTAACATCAGTA CTGCACAAAGCCCTCTTCCGTATACAGCATAAGCACTATTCTATAAAATC CCCAGCAAGCCTTTGTTTCCTTGCAGTCAGCTCCTTTTCTGCTGATTCTG CCCATTGCTCCCTTGCAACGTATTTTCATGCTTTCTCTAATGATTCTGCC TTTCTTTACTTACAACTGCCTTGGTAAATTTTTCTGCCACAGCGCCACTG GCCTCAGATAGTCACCACTCACCTGCAACAAGCCTGAGAGCCAATTAAGA CAAGGCTTTCCCCAAGTAGCACAAATGTATATACCACTACTGTAGTTACT TAATGTACTCATTTATCATTTTAAAATTACCTTATGTACCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0085 a0001c0010t0004g0085	1	268	0.0037	-991	c.75 others(11): Show c.7538_*8528del		TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding					3187		chr4	TogoVar
AHNAK2_chr14_104932253_104983374	104943691	CACCTTGG others(983): Show CACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAG GGCCCTTGAGGTCGACTTTGGGCATCTTGAAACTGGGCATCTGCACCTTG GGCAGGTGTCCTTTGAGGCCGGCTTCCTCGGGCACGTGGCCCTCCAGGAG TTTCATGTCCACCTGGCGAGCTTGGACCGTCAGGTCGGCAGAATGGGGCT GAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTC ACATCGGCCTCCACCTTGGGTGCAGACACGTGCACCGAGGCCTCAATGGA CTTGCCTGGGGCAGACACCCCAAATGACGGCATCTTGAACTTGGGCATTT TGAATTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCC CCCTCCAGCTGTGCACTATCCAGTTTGGCTCTTGGGGCCTGGACGTCCAC CTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTCCGCCT TGGAGACTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCCC TTGAGGTCCACTTTGGGCATCTTCAAACTGGGCATCTCCACCTTGGGCAG GTGCTCTTTGAGGCCGGCTCCCTCGGGCACCTGGCCCTCCGGGAGCTTCA CATCCATCTGGCCAGCCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATG CTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACATC GGCTTCCACCTTGGGTGCAGACACATCCACCGAGGCCTCCATGGACTTCC CTGGGGCCGATACCCTGAATGACGGCATCTTGAATTTGGGCATTTTGAAC TTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCTCCCTC CAGCCGCCCAGCATCCAGCTTGGCCTTCGGGGCCTGGACATCCACCTCCA CGCTGGGCAGAGACACCTCGACATCGGGGACTCTCACTTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	-990	c.107 others(11): Show c.10770_11759del	p.Glu others(15): Show p.Glu3591_Val3920del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	11896/18335	10770/17388	3590/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104945398	GAGGTCCC others(983): Show GAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCGCCTTCGGCG CAGACACATCCACCGAGGCCTGGATGGACTTGCCTGGGGCAGACGCCCTG TACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCAGT CACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCA ACTTGGCTCCTGGGGCCTCGACGTCCACCTCCATGCTGGGCTGAGACACC TCCACGTCGGGGGCCGTCACATCCATCTTCGGGCCTTTCAGGTCCAGCTT GGGGCCCTTGATGTCTATCTGGGGGCCCTTGCGATCTACTTTGGGCATCT TGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCC TCGAGAACGTGGCCCTCTGGGAGCTTCACGTCCACCTGGCCAGCCTGGAC CTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGTTCTTCAGGT CCCCCTGCATGGAGGGGAGGCTCAGGTCGGCCTCCACCTTTGGCGCAGAC ACATCCACCAAGACCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGA CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACAT CCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCAACTTG GCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGCTGAGACACCTCCAC GTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAGGTCCAGCTTGGGGC CCTTGACATCTATCTGGGGTCCCTTGCGATCTACTTTGGGCATCTTGAAA CTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGGG AACGTGGCCCTCTGGGAGCTTCAGGTCCACCTGGCCAGCCTGGACCTCCA GTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGGTCTTC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	-990	c.906 others(10): Show c.9063_10052del	p.Lys others(15): Show p.Lys3022_Leu3351del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	10189/18335	9063/17388	3021/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948854	AGTGGTCT others(983): Show AGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCA CCTTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCA GACACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTC TTTGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCG CACTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGC AGAGACACCTCGACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAG GTCCAGTTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTT TGGGCATCTTCAAACTGGGCATCTCCACCTTGGGCAGGTGCCCTTTGAGG CCAGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCACATCCACCTGGCC AGTCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATGCTGAGGTCAGTGG TCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACCTTG GGTGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATAC CCCGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCA TCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGA CACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCA GCTTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGC ATCTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGC TCCCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCT GGACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	-990	c.560 others(9): Show c.5607_6596del	p.Asp others(15): Show p.Asp1870_Thr2199del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6733/18335	5607/17388	1869/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949849	TCTTGAGG others(983): Show TCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTC GGCGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACAC CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTG TCCAGCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGA CACCTCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCA GCTTGGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGC ATCTTCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGC TCCCTCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCT GGACCTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTC AGGTCCCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTC AGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAA ATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC ACCGCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAG CTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCT TCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTG GGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTT GAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCT CGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACC TCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGTGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG02647.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG02647.hp1 HG02809.hp1	a0050 a0137 a0138 a0050 a0137 a0138	a0050c0020 a0137c0094 a0138c0095 a0050c0020 a0137c0094 a0138c0095	a0050c0020t0001 a0137c0094t0001 a0138c0095t0001 a0050c0020t0001 a0137c0094t0001 a0138c0095t0001	a0050c0020t0001g0016 a0137c0094t0001g0111 a0138c0095t0001g0112 a0050c0020t0001g0016 a0137c0094t0001g0111 a0138c0095t0001g0112	4	356	0.0112	-990	c.461 others(9): Show c.4612_5601del	p.Ala others(15): Show p.Ala1538_Lys1867del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5738/18335	4612/17388	1538/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950127	GCCTTGGG others(983): Show GCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCATCTGGGG GCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGGGCATCTGCACCTTGG GGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGGGGGCCCTCCGGGAGT TTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTCGGCGGAAGGGGACTG AATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCA CATCAGCTTCCACCTTCGGCTCAGACACATCCACCGAGGCCTCGATGGAC TTGCCTGGGGCCGACACCCCAAATGATGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGGCCAGGGACAGGTCCC CCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCACC TCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACCTT GGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCCCT TGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCAGG TGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTCAC GTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTATGC TCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCG GCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCC TGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACT TGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCC AGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCAC GCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG06807.hp2 HG06807.hp2	a0125 a0125	a0125c0242 a0125c0242	a0125c0242t0003 a0125c0242t0003	a0125c0242t0003g0137 a0125c0242t0003g0137	1	356	0.0028	-990	c.433 others(9): Show c.4334_5323del	p.Val others(15): Show p.Val1445_Lys1774del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5460/18335	4334/17388	1445/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950867	GCTCACGT others(983): Show GCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGA TGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGC ATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACAT GTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACAT CCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCC ACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGG GCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGG GCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGT TTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTG AATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCA TGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGAC TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCC CGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACC TCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTT ATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCT TGAGGTCCACTTTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGG TGCCCTTTGAAGCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCAC GTCCACCTGGCCAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGC TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(47): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02129.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 NA18940.hp2 NA19043.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0021 a0022 others(19): Show a0001 a0021 a0022 a0025 a0030 a0031 a0052 a0105 a0108 a0109 a0110 a0112 a0113 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123	a0001c0001 a0001c0003 a0001c0045 others(26): Show a0001c0001 a0001c0003 a0001c0045 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0030c0226 a0031c0046 a0052c0208 a0052c0209 a0105c0211 a0108c0218 a0109c0222 a0110c0221 a0112c0227 a0113c0216 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(26): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0030c0226t0007 a0031c0046t0002 a0052c0208t0002 a0052c0209t0002 a0105c0211t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0112c0227t0007 a0113c0216t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(35): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0052c0208t0002g0231 a0052c0209t0002g0232 a0105c0211t0002g0061 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0112c0227t0007g0207 a0113c0216t0002g0058 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299	50	356	0.1405	-990	c.359 others(9): Show c.3594_4583del	p.Leu others(15): Show p.Leu1199_Ser1528del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4720/18335	3594/17388	1198/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950948	CGGCATCT others(983): Show CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCAAGT CCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCACCATCCAGCTTG GCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGAGAAACCTCCAC ATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGC CCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAA CTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGG CACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCA GGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCC TGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTC CACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCA TCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTG TCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCC CGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGT GGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTG ACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTAGG CATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCCCTCAGGCACGT GGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGACCTCCAGGTCA GCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCAT GGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCG AGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04228.hp2 NA18953.hp1 NA19002.hp1 others(6): Show HG04228.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20905.hp2	a0011 a0029 a0030 others(2): Show a0011 a0029 a0030 a0107 a0111	a0011c0012 a0029c0047 a0030c0223 others(2): Show a0011c0012 a0029c0047 a0030c0223 a0107c0234 a0111c0232	a0011c0012t0002 a0029c0047t0002 a0030c0223t0007 others(2): Show a0011c0012t0002 a0029c0047t0002 a0030c0223t0007 a0107c0234t0002 a0111c0232t0002	a0011c0012t0002g0006 a0029c0047t0002g0031 a0030c0223t0007g0255 others(2): Show a0011c0012t0002g0006 a0029c0047t0002g0031 a0030c0223t0007g0255 a0107c0234t0002g0252 a0111c0232t0002g0066	9	356	0.0253	-990	c.351 others(9): Show c.3513_4502del	p.Ser others(15): Show p.Ser1172_Pro1501del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4639/18335	3513/17388	1171/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951367	TGTCGGCC others(983): Show TGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGAC TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCC CGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACC TCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTT ATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCT TGAGGTCCACTTTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGG TGCCCTTTGAAGCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCAC GTCCACCTGGCCAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGC TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCACGTCG GCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCGATGGACTTGCC TGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGGCATTTTGAACC TGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGTTCCCCCTCC AGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACGTCCACCTCCAC GCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTCCGCCTTGGGGC TTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGGGGCCCTTGAGG GCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAAGTGCCC TTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCACATCCA CCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCAGGCTGAATGCTGAGG TCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0050 a0050	a0050c0020 a0050c0020	a0050c0020t0001 a0050c0020t0001	a0050c0020t0001g0016 a0050c0020t0001g0016	2	356	0.0056	-990	c.309 others(9): Show c.3094_4083del	p.Leu others(15): Show p.Leu1032_Asp1361del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4220/18335	3094/17388	1032/5795			chr14	TogoVar
C1QBP_chr17_5427777_5444155	5435768	GCCTGTAA others(983): Show GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACACGATGAAACTCCATCTCTACTAA AAAATACAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGTACG CGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAA CCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAG CCTGGAGACACAGCAAGACTCTGTCAGAAAAAAAAAAAAAAAAAAAAGAG TACATGAAGTGCCGCCCTCCACTTGTGCTAACTAGCTGCTCTGCCAGGAA GCCACCTTTCCATGGCAACAGAGGCAGTCTGAGGTTGACAAAATCTGTCT AATTCCAACTGTGCTGACTAAGCTGAGCTCCTGGGCACAGAAATTGAATG ACGTTCATCAGAGCATTATTTTTAATGGCCCCCAAATAGCTATGAAAACC TTGCGCAAATGGTGTTTAGGTGAGATTACAGAAGACACAATTGACCTGTG TAGGGCAAAAACACACTATGCAACAGGCAAGAGAATCAGGACCCTACTTC ACACCATATTCAAAATGAATCACAGACCTAAACTAAGAGCTAAAACTAGA AAACTTTGAAAAAATTAAGGCATACATCTTCACAACCTTGGGTTAGGCAG TGGTTTCTTAGACGTGACACTAAAAAAGCACAAGTTGCACTTGGTGAATT AGAAGCAAAGTAAAAAATAAATAAAAAAGCACAAGCGACCAAAAAAATAG GTAAACTGAACTTCCTCAAAATTAAAAACTTTTGTGTCAGAGGACATTAC CAAGAAAGTGAAAAGGAAACCCACAAGATGGGAAACAGTACTTACAAATC ATTAATTTGATAAGATAGTTGTACCCAGAAAAACTTAACTTTTACAACCC AACAATTAAAAAGGTAAATAGGGTGGGCAGGGTGGCTCACA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02486.hp2 others(6): Show HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02717.hp1 HG02895.hp2 HG02970.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0111 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0111 a0001c0001t0006g0112	9	408	0.0221	-990	c.383 others(16): Show c.383+1365_384-803del		C1QBP	ENSG00000108561.8	transcript	ENST00000225698.8	protein_coding	2/5						chr17	TogoVar

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