Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPTOR_chr17_80539838_80971368	80862598	AGCTCCGC others(52): Show AGCTCCGCCCACCATGATGTCTGCTCCGCCCCCTCCTCGTGTTGCTGGTG GTCCTCCGGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01261.hp1 others(7): Show HG01167.hp1 HG01169.hp2 HG01261.hp1 HG02145.hp2 HG02717.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp2 HG03453.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0001c0031 a0001c0044 others(6): Show a0001c0021 a0001c0031 a0001c0044 a0001c0047 a0001c0075 a0001c0077 a0001c0079 a0001c0087 a0002c0062	a0001c0021t0018 a0001c0021t0079 a0001c0031t0027 others(7): Show a0001c0021t0018 a0001c0021t0079 a0001c0031t0027 a0001c0044t0045 a0001c0047t0012 a0001c0075t0012 a0001c0077t0086 a0001c0079t0050 a0001c0087t0002 a0002c0062t0018	a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0031t0027g0173 others(7): Show a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0031t0027g0173 a0001c0044t0045g0080 a0001c0047t0012g0150 a0001c0075t0012g0127 a0001c0077t0086g0195 a0001c0079t0050g0097 a0001c0087t0002g0051 a0002c0062t0018g0191	10	196	0.0510	-59	c.150 others(78): Show c.1509+4767_1509+4825delACCATGATGTCTGCTCCGCCCCCTCC TCGTGTTGCTGGTGGTCCTCCGGGGCTCCGCCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106593580	AGGGATCT others(52): Show AGGGATCTGTGTTTGTCTGGTTCACTATTGAATCCCTACTCCATGGCACA CAAAGGTGCT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0149 a0001c0003t0007g0149	1	396	0.0025	-59	c.670 others(76): Show c.670-1339_670-1281delAGCACCTTTGTGTGCCATGGAGTAGGGA TTCAATAGTGAACCAGACAAACACAGATCCC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	5/8			chr6	TogoVar
SAMD9_chr7_93094518_93122979	93121746	TCGACAAA others(52): Show TCGACAAAGCTGCTGTAGCCACACTGCCTCTCTAGATTTCTCCTTTCTGG GCAGGGCATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	392	0.0026	-59	c.-40 others(70): Show c.-4052_-3994delGATGCCCTGCCCAGAAAGGAGAAATCTAGAGAGG CAGTGTGGCTACAGCAGCTTTGTCG	SAMD9	ENSG00000205413.8	transcript	ENST00000379958.3	protein_coding		3768		chr7	TogoVar
SCGB2A2_chr11_62265158_62278160	62277957	CCCACGGT others(52): Show CCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCA TCTCGGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG01070.hp1 others(26): Show HG00438.hp2 HG00639.hp2 HG01070.hp1 HG01106.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02027.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02602.hp1 HG02602.hp2 HG03239.hp1 HG03516.hp1 HG03669.hp2 NA18945.hp2 NA18955.hp1 NA18970.hp1 NA18974.hp2 NA18984.hp1 NA19060.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0074	29	390	0.0744	-59	c.49 others(70): Show c.4963_*5021delCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGG ACTGTACTGCTGCCATCTCGGCTCA	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4798		chr11	TogoVar
SCYL3_chr1_169844631_169898896	169850986	TTTTTTTT others(52): Show TTTTTTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAGGGTAAG CTCAGGGCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00642.hp1 others(7): Show HG00140.hp1 HG00140.hp2 HG00642.hp1 HG00735.hp2 HG01123.hp1 HG01433.hp1 HG01891.hp1 HG02895.hp2 HG06807.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0035 a0001c0003t0010g0213 a0001c0003t0010g0215 others(6): Show a0001c0003t0010g0035 a0001c0003t0010g0213 a0001c0003t0010g0215 a0001c0003t0010g0217 a0001c0003t0010g0220 a0001c0003t0010g0223 a0001c0003t0010g0226 a0001c0003t0010g0227 a0001c0003t0010g0233	10	418	0.0239	-59	c.26 others(70): Show c.2668_*2726delGGGCCCTGAGCTTACCCTGGCTTGGGAGGCTGCC CAAATAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2668		chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243339045	AGTGGGGT others(52): Show AGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTC AGAAAGTGGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	189	0.0053	-59	c.122 others(78): Show c.1222-1988_1222-1930delGTGGGCGGCAGGAGGGAGCAGACAGC TAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3976654	AGGGTCCC others(52): Show AGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTCCAGA GAATCACTGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp2 NA20129.hp1 HG02258.hp1 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0025 a0001c0037 a0001c0064 a0001c0025 a0001c0037 a0001c0064	a0001c0025t0024 a0001c0037t0002 a0001c0064t0006 a0001c0025t0024 a0001c0037t0002 a0001c0064t0006	a0001c0025t0024g0088 a0001c0037t0002g0077 a0001c0064t0006g0111 a0001c0025t0024g0088 a0001c0037t0002g0077 a0001c0064t0006g0111	3	116	0.0259	-59	c.199 others(78): Show c.1994+2131_1994+2189delGAGGCTGCCACACAGACGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976981	TGAGGCTG others(52): Show TGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0028 a0028	a0028c0052 a0028c0052	a0028c0052t0032 a0028c0052t0032	a0028c0052t0032g0107 a0028c0052t0032g0107	1	116	0.0086	-59	c.199 others(78): Show c.1994+2448_1994+2506delGCAGAGGGCCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976998	GGGCCCTC others(52): Show GGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTG CCACACAGAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp2 HG02145.hp1 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0040 a0001c0017t0011 a0001c0002t0040 a0001c0017t0011	a0001c0002t0040g0084 a0001c0017t0011g0051 a0001c0002t0040g0084 a0001c0017t0011g0051	2	116	0.0172	-59	c.199 others(78): Show c.1994+2456_1994+2514delCCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCGAGGCTGCCACACAGACGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977180	GGGGTCCC others(52): Show GGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0028 a0028	a0028c0052 a0028c0052	a0028c0052t0032 a0028c0052t0032	a0028c0052t0032g0107 a0028c0052t0032g0107	1	116	0.0086	-59	c.199 others(78): Show c.1994+2668_1994+2726delGCAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPIND1_chr22_20769113_20792720	20789919	AAAAGTGA others(52): Show AAAAGTGACTGGTGACACAAGTAAACTTGCTCTCAGTGAAATACATGAAT GTTTTTCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	412	0.0024	-59	c.28 others(70): Show c.2854_*2912delAAAGTGACTGGTGACACAAGTAAACTTGCTCTCA GTGAAATACATGAATGTTTTTCCAG	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding		2200		chr22	TogoVar
SFT2D3_chr2_127696497_127710242	127705358	TTAGAAGT others(52): Show TTAGAAGTACGCCCTGCCGTAACACTGGTATTTCCACATAGTATGGAAGA GGAAGAGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	-59	c.31 others(70): Show c.3183_*3241delTAGAAGTACGCCCTGCCGTAACACTGGTATTTCC ACATAGTATGGAAGAGGAAGAGAGG	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		117		chr2	TogoVar
SHC2_chr19_411589_466033	456828	CTGCCTGG others(52): Show CTGCCTGGAACTCTGTCTGCAATCCCCACCACGTGGGGCCTTTGCACCTG CTGTGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 NA19043.hp1 others(1): Show HG02451.hp2 HG02486.hp1 NA19043.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0009 a0001c0001 a0001c0007 a0005c0009	a0001c0001t0002 a0001c0001t0011 a0001c0007t0006 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0007t0006 a0005c0009t0014	a0001c0001t0002g0039 a0001c0001t0011g0038 a0001c0007t0006g0037 others(1): Show a0001c0001t0002g0039 a0001c0001t0011g0038 a0001c0007t0006g0037 a0005c0009t0014g0040	4	212	0.0189	-59	c.468 others(76): Show c.468+3642_468+3700delAGGGGCACAGCAGGTGCAAAGGCCCCAC GTGGTGGGGATTGCAGACAGAGTTCCAGGCA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SKIL_chr3_170352715_170401835	170401776	CAAAAAAC others(52): Show CAAAAAACTAAATAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(286): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010	a0001c0001 a0001c0003 a0002c0002 others(8): Show a0001c0001 a0001c0003 a0002c0002 a0002c0008 a0003c0004 a0004c0005 a0005c0006 a0007c0012 a0008c0011 a0009c0010 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(77): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0003t0004 a0001c0003t0007 a0001c0003t0014 a0001c0003t0024 a0001c0003t0043 a0001c0003t0076 a0001c0003t0081 a0001c0003t0082 a0002c0002t0006 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0034 a0002c0002t0041 a0002c0002t0042 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0049 a0002c0002t0051 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059 a0002c0002t0088 a0002c0002t0089 a0002c0008t0050 a0003c0004t0004 a0003c0004t0080 a0004c0005t0012 a0005c0006t0001 a0007c0012t0009 a0008c0011t0001 a0009c0010t0001 a0010c0013t0066	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(278): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0169 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0203 a0001c0001t0002g0214 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0053 a0001c0001t0003g0068 a0001c0001t0003g0117 a0001c0001t0003g0127 a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0170 a0001c0001t0003g0178 a0001c0001t0003g0215 a0001c0001t0004g0014 a0001c0001t0004g0056 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0216 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0007g0006 a0001c0001t0007g0015 a0001c0001t0007g0059 a0001c0001t0007g0063 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0136 a0001c0001t0007g0200 a0001c0001t0007g0211 a0001c0001t0007g0218 a0001c0001t0007g0222 a0001c0001t0007g0224 a0001c0001t0008g0013 a0001c0001t0008g0036 a0001c0001t0008g0037 a0001c0001t0008g0051 a0001c0001t0008g0054 a0001c0001t0008g0088 a0001c0001t0008g0090 a0001c0001t0008g0095 a0001c0001t0008g0101 a0001c0001t0008g0177 a0001c0001t0008g0182 a0001c0001t0008g0185 a0001c0001t0008g0190 a0001c0001t0008g0238 a0001c0001t0009g0002 a0001c0001t0009g0009 a0001c0001t0009g0020 a0001c0001t0009g0079 a0001c0001t0009g0142 a0001c0001t0009g0180 a0001c0001t0009g0206 a0001c0001t0012g0049 a0001c0001t0012g0050 a0001c0001t0012g0070 a0001c0001t0012g0073 a0001c0001t0012g0074 a0001c0001t0014g0057 a0001c0001t0014g0174 a0001c0001t0014g0201 a0001c0001t0014g0232 a0001c0001t0016g0031 a0001c0001t0021g0039 a0001c0001t0021g0041 a0001c0001t0021g0064 a0001c0001t0022g0007 a0001c0001t0022g0042 a0001c0001t0022g0078 a0001c0001t0023g0062 a0001c0001t0023g0108 a0001c0001t0023g0191 a0001c0001t0024g0217 a0001c0001t0036g0038 a0001c0001t0036g0104 a0001c0001t0037g0072 a0001c0001t0037g0113 a0001c0001t0038g0141 a0001c0001t0038g0152 a0001c0001t0039g0012 a0001c0001t0040g0048 a0001c0001t0040g0055 a0001c0001t0060g0194 a0001c0001t0061g0132 a0001c0001t0062g0151 a0001c0001t0063g0165 a0001c0001t0064g0181 a0001c0001t0065g0094 a0001c0001t0067g0139 a0001c0001t0068g0196 a0001c0001t0069g0047 a0001c0001t0070g0106 a0001c0001t0071g0040 a0001c0001t0072g0086 a0001c0001t0073g0076 a0001c0001t0074g0007 a0001c0001t0075g0234 a0001c0001t0077g0221 a0001c0001t0078g0066 a0001c0001t0079g0058 a0001c0001t0083g0035 a0001c0001t0084g0060 a0001c0001t0085g0001 a0001c0001t0086g0034 a0001c0001t0087g0065 a0001c0003t0004g0084 a0001c0003t0007g0077 a0001c0003t0007g0175 a0001c0003t0007g0176 a0001c0003t0014g0173 a0001c0003t0014g0202 a0001c0003t0024g0046 a0001c0003t0024g0052 a0001c0003t0043g0083 a0001c0003t0076g0082 a0001c0003t0081g0006 a0001c0003t0082g0134 a0002c0002t0006g0258 a0002c0002t0006g0312 a0002c0002t0006g0313 a0002c0002t0006g0315 a0002c0002t0006g0316 a0002c0002t0006g0317 a0002c0002t0006g0319 a0002c0002t0006g0321 a0002c0002t0006g0323 a0002c0002t0006g0324 a0002c0002t0006g0325 a0002c0002t0006g0326 a0002c0002t0006g0328 a0002c0002t0006g0329 a0002c0002t0006g0333 a0002c0002t0016g0022 a0002c0002t0016g0024 a0002c0002t0016g0025 a0002c0002t0016g0026 a0002c0002t0017g0299 a0002c0002t0017g0301 a0002c0002t0017g0304 a0002c0002t0018g0314 a0002c0002t0018g0318 a0002c0002t0018g0327 a0002c0002t0025g0302 a0002c0002t0025g0303 a0002c0002t0026g0305 a0002c0002t0026g0306 a0002c0002t0027g0298 a0002c0002t0027g0307 a0002c0002t0034g0018 a0002c0002t0041g0331 a0002c0002t0042g0300 a0002c0002t0044g0311 a0002c0002t0045g0266 a0002c0002t0046g0322 a0002c0002t0047g0320 a0002c0002t0049g0019 a0002c0002t0051g0334 a0002c0002t0057g0023 a0002c0002t0058g0027 a0002c0002t0059g0028 a0002c0002t0088g0309 a0002c0002t0089g0308 a0002c0008t0050g0019 a0003c0004t0004g0223 a0003c0004t0080g0227 a0004c0005t0012g0071 a0004c0005t0012g0075 a0005c0006t0001g0135 a0005c0006t0001g0153 a0007c0012t0009g0001 a0008c0011t0001g0114 a0009c0010t0001g0171 a0010c0013t0066g0137	289	362	0.7983	-59	c.93 others(70): Show c.9360_*9418delAAAAAACTAAATAATAGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGG	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding		4942		chr3	TogoVar
SLC10A6_chr4_86818468_86854384	86842811	TTTCTTTC others(52): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp2 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0340 a0001c0001t0003g0341	2	350	0.0057	-59	c.377 others(76): Show c.377+5869_377+5927delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC22A23_chr6_3263973_3462050	3310271	GGAGCACC others(52): Show GGAGCACCCTGTCTCCCAGGGAGCACCCTGTCTCCCACTCAAGCACCCTG CCTCCCACTC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG06807.hp2 HG02486.hp1 HG02622.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0029 a0001c0001t0005 a0001c0001t0015 a0001c0001t0029	a0001c0001t0005g0052 a0001c0001t0015g0051 a0001c0001t0029g0012 a0001c0001t0005g0052 a0001c0001t0015g0051 a0001c0001t0029g0012	3	222	0.0135	-59	c.108 others(80): Show c.1083-12112_1083-12054delGAGTGGGAGGCAGGGTGCTTGAGT GGGAGACAGGGTGCTCCCTGGGAGACAGGGTGCTC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	4/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3310321	CCTCCCAC others(52): Show CCTCCCACTCGAGCACCCTGTCTCCCAGGGAGCACCCTGTCTCCCACTCG AGCACCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01106.hp2 HG01109.hp2 others(55): Show HG00544.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG04184.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18952.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp2 NA19056.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0053 a0001c0001t0058 a0001c0002t0002 a0001c0002t0008 a0001c0002t0050 a0001c0003t0006 a0001c0003t0019 a0001c0003t0024 a0001c0012t0051	a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0056 others(55): Show a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0002g0157 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0004g0094 a0001c0001t0005g0027 a0001c0001t0005g0031 a0001c0001t0005g0129 a0001c0001t0005g0132 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0048 a0001c0001t0007g0087 a0001c0001t0007g0191 a0001c0001t0009g0032 a0001c0001t0009g0044 a0001c0001t0009g0045 a0001c0001t0009g0060 a0001c0001t0010g0041 a0001c0001t0010g0061 a0001c0001t0011g0215 a0001c0001t0013g0203 a0001c0001t0013g0204 a0001c0001t0013g0213 a0001c0001t0016g0205 a0001c0001t0018g0020 a0001c0001t0021g0185 a0001c0001t0022g0049 a0001c0001t0031g0188 a0001c0001t0035g0050 a0001c0001t0036g0118 a0001c0001t0042g0033 a0001c0001t0043g0042 a0001c0001t0053g0202 a0001c0001t0058g0208 a0001c0002t0002g0073 a0001c0002t0002g0100 a0001c0002t0002g0108 a0001c0002t0002g0169 a0001c0002t0008g0114 a0001c0002t0050g0219 a0001c0003t0006g0074 a0001c0003t0019g0187 a0001c0003t0024g0212 a0001c0003t0024g0216 a0001c0012t0051g0221	58	222	0.2613	-59	c.108 others(80): Show c.1083-12162_1083-12104delACAGGGTGCTCGAGTGGGAGACAG GGTGCTCCCTGGGAGACAGGGTGCTCGAGTGGGAG	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	4/9			chr6	TogoVar
SLC25A21_chr14_36672921_37177606	37098746	TAGACAGA others(52): Show TAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGATAGATA GATAGATAGA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19081.hp2 NA20905.hp2 NA18971.hp1 NA19081.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0052 a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0002g0052 a0001c0001t0003g0109 a0001c0001t0003g0112	3	164	0.0183	-59	c.70+ others(76): Show c.70+73476_70+73534delTCTATCTATCTATCTATCTGTCTGTCTG TCTGTCTGTCTGTCTGTCTGTCTGTCTGTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	1/9			chr14	TogoVar
SLC26A2_chr5_149955758_149992400	149989343	TTTCTAGC others(52): Show TTTCTAGCCTAACCATTCTAGAACGCCAAACAGTCTATCTGTCTGTATAT AAATCTCCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0066 a0002c0002t0003g0066	1	364	0.0028	-59	c.75 others(70): Show c.7531_*7589delTTCTAGCCTAACCATTCTAGAACGCCAAACAGTC TATCTGTCTGTATATAAATCTCCAG	SLC26A2	ENSG00000155850.9	transcript	ENST00000286298.5	protein_coding		1944		chr5	TogoVar
SLC28A1_chr15_84879662_84950798	84928569	TCTTTCTT others(52): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTT TCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02280.hp1 HG02559.hp2 others(7): Show HG01255.hp2 HG02280.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03453.hp2 NA19240.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0004 a0003c0015 a0010c0018 others(1): Show a0001c0004 a0003c0015 a0010c0018 a0010c0039	a0001c0004t0001 a0001c0004t0003 a0001c0004t0012 others(4): Show a0001c0004t0001 a0001c0004t0003 a0001c0004t0012 a0003c0015t0003 a0003c0015t0004 a0010c0018t0001 a0010c0039t0001	a0001c0004t0001g0369 a0001c0004t0001g0380 a0001c0004t0003g0012 others(7): Show a0001c0004t0001g0369 a0001c0004t0001g0380 a0001c0004t0003g0012 a0001c0004t0012g0180 a0003c0015t0003g0365 a0003c0015t0003g0367 a0003c0015t0004g0004 a0010c0018t0001g0010 a0010c0018t0001g0046 a0010c0039t0001g0268	10	396	0.0253	-59	c.108 others(78): Show c.1083+4460_1084-4517delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18			chr15	TogoVar
SLC49A3_chr4_676829_694151	681626	CCCCCTCC others(52): Show CCCCCTCCAGCGCCGCCCCGCCCCCTCCAGCGCCGCCCCGCCCCCTCCAG CGCCGCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0016 a0001c0007t0001g0016	1	412	0.0024	-59	c.27 others(68): Show c.273_*331delCGGGGCGGCGCTGGAGGGGGCGGGGCGGCGCTGGAG GGGGCGGGGCGGCGCTGGAGGGG	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		202		chr4	TogoVar
SLC6A12_chr12_185081_219157	216900	TACTTCAT others(52): Show TACTTCATTTCATCCCCTTAAGAACTTTGAAATGTAAAAATTATTAGCCC CATTTTACAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	420	0.0024	-59	c.-31 others(70): Show c.-3180_-3122delCTGTAAAATGGGGCTAATAATTTTTACATTTCAA AGTTCTTAAGGGGATGAAATGAAGT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding		2744		chr12	TogoVar
SLC7A1_chr13_29504414_29600688	29558512	AGGGGGAG others(52): Show AGGGGGAGAGAATGTGAATGAGGGGGAGAGAATGTGAGTGATGGGGAGAG AATGTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(95): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00621.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG02886.hp2 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18981.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19065.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0014 a0001c0016 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0035 a0001c0001t0037 a0001c0001t0048 a0001c0002t0004 a0001c0003t0005 a0001c0005t0006 a0001c0006t0001 a0001c0006t0029 a0001c0014t0004 a0001c0016t0006 a0001c0019t0007	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 others(90): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0067 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0190 a0001c0001t0003g0229 a0001c0001t0003g0299 a0001c0001t0004g0243 a0001c0001t0004g0272 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0059 a0001c0001t0009g0221 a0001c0001t0009g0286 a0001c0001t0013g0004 a0001c0001t0013g0024 a0001c0001t0013g0025 a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0015g0022 a0001c0001t0015g0023 a0001c0001t0015g0028 a0001c0001t0015g0029 a0001c0001t0018g0230 a0001c0001t0018g0231 a0001c0001t0021g0030 a0001c0001t0021g0031 a0001c0001t0024g0241 a0001c0001t0024g0269 a0001c0001t0035g0080 a0001c0001t0037g0270 a0001c0001t0048g0315 a0001c0002t0004g0228 a0001c0003t0005g0282 a0001c0005t0006g0062 a0001c0006t0001g0009 a0001c0006t0001g0244 a0001c0006t0029g0046 a0001c0014t0004g0260 a0001c0016t0006g0258 a0001c0019t0007g0014	98	330	0.2970	-59	c.-11 others(78): Show c.-114-4711_-114-4653delCACTCACATTCTCTCCCCATCACTCA CATTCTCTCCCCCTCATTCACATTCTCTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558520	AGAATGTG others(52): Show AGAATGTGAATGAGGGGGAGAGAATGTGAGTGATGGGGAGAGAATGTGAG TGGGGGGAGT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01952.hp1 HG02148.hp1 HG00738.hp2 HG01952.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0009 a0001c0002t0004 a0001c0002t0009	a0001c0002t0004g0290 a0001c0002t0009g0197 a0001c0002t0009g0306 a0001c0002t0004g0290 a0001c0002t0009g0197 a0001c0002t0009g0306	3	330	0.0091	-59	c.-11 others(78): Show c.-114-4719_-114-4661delACTCCCCCCACTCACATTCTCTCCCC ATCACTCACATTCTCTCCCCCTCATTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559151	GGGGGAGT others(52): Show GGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGA ATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0082 a0001c0001t0045g0082	1	330	0.0030	-59	c.-11 others(78): Show c.-114-5350_-114-5292delTCACTCACATTCTCTCCCCCTCACTC ACATTCTCTCCCCCTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559292	GGGGGAGA others(52): Show GGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18965.hp1 NA18967.hp2 others(1): Show HG01993.hp2 NA18965.hp1 NA18967.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007	a0001c0002t0002g0151 a0001c0002t0002g0186 a0001c0002t0004g0181 others(1): Show a0001c0002t0002g0151 a0001c0002t0002g0186 a0001c0002t0004g0181 a0001c0002t0007g0001	4	330	0.0121	-59	c.-11 others(78): Show c.-114-5491_-114-5433delTCACTCACATTCACTCCCCCTCACTC ACATTCTCTCCCCCTCACTCACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A6_chrX_135980435_136052269	136033603	ACCTTTCA others(52): Show ACCTTTCATCTTCCCTTTCCCCATCAGTGCTGTGGAAAAGGAAACCCACA CAGACAGATT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01978.hp2 HG01361.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0140 a0001c0001t0001g0145	2	199	0.0101	-59	c.166 others(76): Show c.1661+114_1661+172delTTCATCTTCCCTTTCCCCATCAGTGCTG TGGAAAAGGAAACCCACACAGACAGATTCCT	SLC9A6	ENSG00000198689.13	transcript	ENST00000630721.3	protein_coding	16/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMC6_chr2_17658812_17758810	17758745	TTGGGAGG others(52): Show TTGGGAGGCTGAGGCAGGCAGATCACTTGAACCTGGGAGGCAGAGGTTGC ACTGAGCTGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	254	0.0039	-59	c.-52 others(70): Show c.-5271_-5213delTCAGCTCAGTGCAACCTCTGCCTCCCAGGTTCAA GTGATCTGCCTGCCTCAGCCTCCCA	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding		4936		chr2	TogoVar
SMIM35_chr11_117998634_118091963	118049696	GTCATATA others(52): Show GTCATATATGTTTGAGTATAAATACAAATATACTTTATAAATACATAAAT ATCAGAGTGC	G G	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0395 a0002c0002t0005g0395	1	408	0.0025	-59	c.8-3 others(74): Show c.8-33946_8-33888delGCACTCTGATATTTATGTATTTATAAAGTA TATTTGTATTTATACTCAAACATATATGA	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMOC2_chr6_168436184_168672992	168596006	CTTCCTGG others(52): Show CTTCCTGGGTGCTGCTGGAGAGGCATGAACAAGCGCCACGTGAACACGGC AGTGATGAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(61): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19065.hp2 NA19079.hp2 NA19088.hp1 NA19091.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0016 a0001c0004t0005 a0001c0013t0002 a0004c0009t0003	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0098 others(61): Show a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0149 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0005g0069 a0001c0002t0007g0053 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0004t0005g0048 a0001c0013t0002g0033 a0004c0009t0003g0088	64	180	0.3556	-59	c.638 others(76): Show c.638-2730_638-2672delCATGAACAAGCGCCACGTGAACACGGCA GTGATGAGTTTCCTGGGTGCTGCTGGAGAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168596221	CGTGAACA others(52): Show CGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAA CAGGTGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(53): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18950.hp2 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19079.hp2 NA19091.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0016 a0001c0004t0005 a0001c0013t0002 a0004c0009t0003	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0098 others(53): Show a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0149 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0005g0069 a0001c0002t0007g0053 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0004t0005g0048 a0001c0013t0002g0033 a0004c0009t0003g0088	56	180	0.3111	-59	c.638 others(76): Show c.638-2453_638-2395delTGGGTGCTGCTGGAGAGGAATGAACAGG TGCCATGTGAACACGGCAGTGATGAGTTTCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPDL3A_chr6_122784258_122814720	122808592	TTCCTCCC others(52): Show TTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCCCCCTCC	T T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	442	0.0023	-59	c.104 others(76): Show c.1045-495_1045-437delTCCCTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCCCCCTCCTCC	SMPDL3A	ENSG00000172594.13	transcript	ENST00000368440.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX14_chr6_85500496_85598858	85574794	TAGTCTCT others(52): Show TAGTCTCTACCTGCATGGAAAACACAGTCTAGTAGTGGTGATACGTAAGT AAAAATAAGC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	360	0.0028	-59	c.141 others(74): Show c.141-475_141-417delGCTTATTTTTACTTACGTATCACCACTACT AGACTGTGTTTTCCATGCAGGTAGAGACT	SNX14	ENSG00000135317.14	transcript	ENST00000314673.8	protein_coding	1/28			chr6	TogoVar
SNX29_chr16_11971734_12579287	12244844	CATTTCTC others(52): Show CATTTCTCACCATTTGTTACTGCTACTTAATTTGAAATGACAGTTTTGTG TTCTCAAAAG	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0162 a0001c0001t0110g0162	1	176	0.0057	-59	c.167 others(80): Show c.1679-33087_1679-33029delTTTCTCACCATTTGTTACTGCTAC TTAATTTGAAATGACAGTTTTGTGTTCTCAAAAGA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SOX11_chr2_5687384_5706385	5706326	TGGGGTGG others(52): Show TGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGT GGAGAAGCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	1	434	0.0023	-59	c.12 others(72): Show c.12280_*12338delGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGG AGCAGGGAGACTGGGGTGGAGAAGCTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4942		chr2	TogoVar
SOX6_chr11_15961449_16361546	16132294	GGAAGGAA others(52): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGA AAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18974.hp1 NA19002.hp1 others(1): Show NA18945.hp1 NA18974.hp1 NA19002.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0167 a0001c0001t0002g0087 a0001c0001t0002g0148 others(1): Show a0001c0001t0001g0167 a0001c0001t0002g0087 a0001c0001t0002g0148 a0001c0001t0005g0185	4	218	0.0184	-59	c.778 others(78): Show c.778-20430_778-20372delTTTCTTTCTTTCTTTTTTCTTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SPADH_chr10_122667850_122684494	122680920	CCTCATGT others(52): Show CCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAA CCATGGTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	414	0.0024	-59	c.18 others(70): Show c.1873_*1931delCTCATGTGTGAACTGGAGATAGAAACATCAGACC TTTTACCTCTGTCAACCATGGTTTT	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1427		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681289	CGGAGATA others(52): Show CGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCA CGTGTGAACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00639.hp1 others(89): Show HG00099.hp2 HG00280.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03704.hp2 HG03834.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19030.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19076.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19086.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0002 a0001c0006t0002 a0001c0007t0002 a0005c0009t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0021 others(14): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0004g0005 a0001c0001t0005g0002 a0001c0001t0006g0006 a0001c0004t0002g0002 a0001c0006t0002g0002 a0001c0007t0002g0025 a0005c0009t0002g0021	92	414	0.2222	-59	c.22 others(70): Show c.2242_*2300delGGAGATAGAAACATCAGACCTTTTACCTCTGTCA ACCATGGTTTCCTCACGTGTGAACT	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1796		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681339	CGTGTGAA others(52): Show CGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTTCTCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03471.hp1 HG02738.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0049 a0001c0001t0002g0022 a0001c0001t0002g0049	2	414	0.0048	-59	c.22 others(70): Show c.2292_*2350delGTGTGAACTGGAGATAGAAACATCAGACCTTTTA CCTCTGTCAACCATGGTTTTCTCAT	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1846		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681806	CCTCGTGT others(52): Show CCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAA CCATGGTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18951.hp1 NA19006.hp2 others(1): Show NA18940.hp2 NA18951.hp1 NA19006.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0033 a0001c0001t0004g0005 a0001c0001t0004g0033	4	414	0.0097	-59	c.27 others(70): Show c.2759_*2817delCTCGTGTGTGAACTGGAGATAGAAACATCAGACC TTTTACCTCTGTCAACCATGGTTTT	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		2313		chr10	TogoVar
SPEF2_chr5_35612863_35819611	35672233	GTTCATTA others(52): Show GTTCATTATAATGTTATTGAACATAATGTTCATTATAATGTTATTGAACA TTATATATAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(260): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043	a0001c0002 a0001c0003 a0002c0001 others(49): Show a0001c0002 a0001c0003 a0002c0001 a0002c0041 a0003c0004 a0003c0022 a0003c0050 a0004c0005 a0004c0012 a0004c0038 a0005c0006 a0006c0007 a0006c0008 a0007c0011 a0007c0044 a0007c0045 a0008c0009 a0009c0013 a0010c0015 a0010c0024 a0011c0010 a0012c0014 a0013c0020 a0014c0021 a0015c0023 a0016c0018 a0017c0019 a0018c0017 a0020c0052 a0021c0047 a0022c0048 a0023c0049 a0024c0046 a0025c0054 a0026c0051 a0027c0039 a0028c0040 a0029c0042 a0030c0043 a0031c0037 a0032c0036 a0033c0028 a0034c0026 a0035c0027 a0036c0029 a0037c0030 a0038c0034 a0039c0033 a0040c0032 a0041c0031 a0042c0025 a0043c0035	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(49): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0041t0001 a0003c0004t0001 a0003c0022t0001 a0003c0050t0001 a0004c0005t0001 a0004c0012t0001 a0004c0038t0001 a0005c0006t0001 a0006c0007t0001 a0006c0008t0001 a0007c0011t0001 a0007c0044t0001 a0007c0045t0001 a0008c0009t0001 a0009c0013t0001 a0010c0015t0001 a0010c0024t0001 a0011c0010t0001 a0012c0014t0001 a0013c0020t0001 a0014c0021t0001 a0015c0023t0001 a0016c0018t0001 a0017c0019t0001 a0018c0017t0001 a0020c0052t0001 a0021c0047t0001 a0022c0048t0001 a0023c0049t0001 a0024c0046t0001 a0025c0054t0001 a0026c0051t0001 a0027c0039t0001 a0028c0040t0001 a0029c0042t0001 a0030c0043t0001 a0031c0037t0001 a0032c0036t0001 a0033c0028t0001 a0034c0026t0001 a0035c0027t0001 a0036c0029t0001 a0037c0030t0001 a0038c0034t0001 a0039c0033t0001 a0040c0032t0001 a0041c0031t0001 a0042c0025t0001 a0043c0035t0001	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 others(256): Show a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0091 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0003t0001g0003 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0157 a0001c0003t0001g0160 a0001c0003t0001g0177 a0001c0003t0001g0245 a0001c0003t0001g0264 a0002c0001t0001g0002 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0021 a0002c0001t0001g0043 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0184 a0002c0001t0001g0193 a0002c0001t0001g0202 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0231 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0247 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0253 a0002c0001t0001g0255 a0002c0001t0001g0258 a0002c0001t0001g0261 a0002c0001t0001g0263 a0002c0041t0001g0141 a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0069 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0110 a0003c0004t0001g0121 a0003c0004t0001g0122 a0003c0004t0001g0124 a0003c0004t0001g0127 a0003c0004t0001g0128 a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0201 a0003c0004t0001g0204 a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0225 a0003c0004t0001g0243 a0003c0004t0001g0246 a0003c0022t0001g0219 a0003c0022t0001g0220 a0003c0050t0001g0244 a0004c0005t0001g0064 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0101 a0004c0005t0001g0111 a0004c0005t0001g0112 a0004c0005t0001g0113 a0004c0005t0001g0114 a0004c0005t0001g0115 a0004c0005t0001g0116 a0004c0005t0001g0117 a0004c0005t0001g0118 a0004c0005t0001g0119 a0004c0005t0001g0120 a0004c0005t0001g0123 a0004c0005t0001g0125 a0004c0005t0001g0129 a0004c0005t0001g0131 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0189 a0004c0005t0001g0205 a0004c0005t0001g0206 a0004c0005t0001g0216 a0004c0005t0001g0221 a0004c0005t0001g0224 a0004c0005t0001g0248 a0004c0012t0001g0145 a0004c0012t0001g0170 a0004c0012t0001g0234 a0004c0012t0001g0237 a0004c0038t0001g0198 a0005c0006t0001g0001 a0005c0006t0001g0104 a0005c0006t0001g0106 a0005c0006t0001g0172 a0005c0006t0001g0173 a0005c0006t0001g0174 a0005c0006t0001g0175 a0005c0006t0001g0176 a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180 a0005c0006t0001g0256 a0005c0006t0001g0257 a0006c0007t0001g0171 a0006c0007t0001g0181 a0006c0007t0001g0182 a0006c0007t0001g0183 a0006c0007t0001g0186 a0006c0007t0001g0187 a0006c0007t0001g0188 a0006c0008t0001g0025 a0006c0008t0001g0039 a0006c0008t0001g0040 a0006c0008t0001g0072 a0006c0008t0001g0090 a0006c0008t0001g0126 a0007c0011t0001g0142 a0007c0011t0001g0143 a0007c0011t0001g0144 a0007c0011t0001g0147 a0007c0044t0001g0146 a0007c0045t0001g0130 a0008c0009t0001g0165 a0008c0009t0001g0166 a0008c0009t0001g0167 a0008c0009t0001g0168 a0008c0009t0001g0169 a0009c0013t0001g0133 a0009c0013t0001g0194 a0009c0013t0001g0241 a0009c0013t0001g0242 a0010c0015t0001g0068 a0010c0015t0001g0138 a0010c0015t0001g0140 a0010c0024t0001g0139 a0011c0010t0001g0012 a0011c0010t0001g0047 a0011c0010t0001g0048 a0011c0010t0001g0070 a0012c0014t0001g0016 a0012c0014t0001g0018 a0013c0020t0001g0259 a0013c0020t0001g0260 a0014c0021t0001g0100 a0014c0021t0001g0233 a0015c0023t0001g0200 a0015c0023t0001g0254 a0016c0018t0001g0151 a0016c0018t0001g0152 a0017c0019t0001g0015 a0017c0019t0001g0105 a0018c0017t0001g0013 a0018c0017t0001g0014 a0020c0052t0001g0230 a0021c0047t0001g0132 a0022c0048t0001g0232 a0023c0049t0001g0137 a0024c0046t0001g0252 a0025c0054t0001g0185 a0026c0051t0001g0164 a0027c0039t0001g0211 a0028c0040t0001g0009 a0029c0042t0001g0203 a0030c0043t0001g0226 a0031c0037t0001g0262 a0032c0036t0001g0155 a0033c0028t0001g0190 a0034c0026t0001g0191 a0035c0027t0001g0192 a0036c0029t0001g0041 a0037c0030t0001g0042 a0038c0034t0001g0019 a0039c0033t0001g0017 a0040c0032t0001g0023 a0041c0031t0001g0083 a0042c0025t0001g0033 a0043c0035t0001g0046	263	268	0.9813	-59	c.152 others(78): Show c.1524+2067_1524+2125delTCATTATAATGTTATTGAACATAATG TTCATTATAATGTTATTGAACATTATATATAAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	10/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPO11_chr20_57324803_57348993	57347116	TCGCAGAG others(52): Show TCGCAGAGCACGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCA AGGTGGGCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	322	0.0031	-59	c.36 others(70): Show c.3657_*3715delCGCAGAGCACGGTAGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCAAGGTGGGCGG	SPO11	ENSG00000054796.13	transcript	ENST00000371263.8	protein_coding		3124		chr20	TogoVar
SPPL3_chr12_120757510_120909358	120852735	ATATAATA others(52): Show ATATAATATATTTCATATATTATATCTATGTATATTATATATAAAATATA TTTCATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp1 others(90): Show HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02135.hp2 HG02165.hp1 HG02300.hp1 HG02683.hp1 HG02723.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA19004.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0019 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0039	a0001c0001t0001g0001 a0001c0001t0001g0221 a0001c0001t0001g0222 others(89): Show a0001c0001t0001g0001 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0003g0274 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0014g0093 a0001c0001t0019g0299 a0001c0001t0019g0303 a0001c0001t0033g0256 a0001c0001t0034g0257 a0001c0001t0036g0249 a0001c0001t0039g0263	93	320	0.2906	-59	c.24- others(76): Show c.24-41908_24-41850delATATATGAAATATATTTTATATATAATA TACATAGATATAATATATGAAATATATTATA	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SRPK2_chr7_105111374_105393921	105342082	AGTGAAAC others(52): Show AGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTG GCACATGCCT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03491.hp2 NA18955.hp1 others(7): Show HG03017.hp2 HG03491.hp2 NA18955.hp1 NA18965.hp2 NA18977.hp1 NA18989.hp2 NA18999.hp1 NA19003.hp1 NA19010.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 others(7): Show a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0116	10	282	0.0355	-59	c.71+ others(76): Show c.71+46507_71+46565delAGGCATGTGCCACCATGCCCAGCTAATT TTTTGTATTTTTAGTAGAGATGGGGTTTCAC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
STAB2_chr12_103582273_103771719	103653848	ATGGATGG others(52): Show ATGGATGGATGGATGGATGGATGGATGGATGGAGAGATGCATGGAGGATG CATGGATAGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0001 a0002c0035t0001	a0002c0035t0001g0015 a0002c0035t0001g0015	1	256	0.0039	-59	c.140 others(76): Show c.1408-690_1408-632delTGGATGGATGGATGGAGAGATGCATGGA GGATGCATGGATAGGTGGATGGATGGATGGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	12/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STON1_chr2_48525154_48603513	48564493	TTCTTCTT others(52): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0313 a0003c0004t0004g0313	1	376	0.0027	-59	c.-47 others(78): Show c.-47-16092_-47-16034delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564499	TTCTTCTT others(52): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0330 a0003c0004t0004g0330	1	376	0.0027	-59	c.-47 others(78): Show c.-47-16086_-47-16028delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STX2_chr12_130784600_130844250	130842251	TGTGATAT others(52): Show TGTGATATTCTATTACCTTGTGAAGCATGTGATCTCTGTGACCCACACCC TATTTGTACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0073 a0002c0002t0018g0073	1	380	0.0026	-59	c.-32 others(70): Show c.-3211_-3153delTGTACAAATAGGGTGTGGGTCACAGAGATCACAT GCTTCACAAGGTAATAGAATATCAC	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		3002		chr12	TogoVar
SUPT20HL2_chrX_24303210_24319069	24309687	AAAATTAA others(52): Show AAAATTAAAAAAAAAAATTAAAAAAAAAAAGAAAAAAATAATAAAAATAA AAAAAAAAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0000 a0001c0001t0049g0000	1	293	0.0034	-59	c.11 others(70): Show c.1116_*1174delCTTTTTTTTTTTATTTTTATTATTTTTTTCTTTT TTTTTTTAATTTTTTTTTTTAATTT	SUPT20HL2	ENSG00000223611.7	transcript	ENST00000486479.3	protein_coding	1/1	1116		chrX	TogoVar
SYNJ2_chr6_157976863_158104176	158088005	ATTTTAAC others(52): Show ATTTTAACAGTTTATTCCCCTGCTTTGGAATTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	312	0.0032	-59	c.334 others(76): Show c.3344-650_3344-592delAACAGTTTATTCCCCTGCTTTGGAATTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	23/26		INFO_REALIGN_3_PRIME	chr6	TogoVar

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