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
RYR2_chr1_237037184_237838988	237641467	GTCTGTCT others(13): Show GTCTGTCTTTCTTTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(14): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp2 HG01256.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG02293.hp1 HG03017.hp1 HG03017.hp2 NA18946.hp2 NA18962.hp1 NA18962.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0036 a0001c0044 a0002c0024 a0003c0006 a0003c0013 a0007c0033	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(12): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0008t0025 a0001c0036t0003 a0001c0044t0002 a0002c0024t0005 a0003c0006t0002 a0003c0013t0003 a0007c0033t0008	a0001c0001t0003g0023 a0001c0002t0001g0075 a0001c0002t0002g0022 others(14): Show a0001c0001t0003g0023 a0001c0002t0001g0075 a0001c0002t0002g0022 a0001c0002t0002g0076 a0001c0002t0010g0021 a0001c0003t0001g0063 a0001c0003t0001g0078 a0001c0003t0002g0090 a0001c0003t0003g0084 a0001c0003t0004g0060 a0001c0008t0025g0039 a0001c0036t0003g0038 a0001c0044t0002g0014 a0002c0024t0005g0013 a0003c0006t0002g0094 a0003c0013t0003g0086 a0007c0033t0008g0049	17	76	0.2237	-20	c.722 others(37): Show c.7221+469_7221+488delGTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	47/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33325725	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01261.hp1 others(4): Show HG01070.hp1 HG01071.hp2 HG01261.hp1 HG01891.hp1 HG02738.hp2 HG02809.hp2 HG03453.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0042	a0001c0004 a0001c0046 a0001c0101 others(3): Show a0001c0004 a0001c0046 a0001c0101 a0002c0044 a0012c0011 a0042c0071	a0001c0004t0001 a0001c0046t0011 a0001c0101t0001 others(3): Show a0001c0004t0001 a0001c0046t0011 a0001c0101t0001 a0002c0044t0003 a0012c0011t0009 a0042c0071t0003	a0001c0004t0001g0127 a0001c0046t0011g0066 a0001c0101t0001g0128 others(4): Show a0001c0004t0001g0127 a0001c0046t0011g0066 a0001c0101t0001g0128 a0002c0044t0003g0105 a0012c0011t0009g0067 a0012c0011t0009g0068 a0042c0071t0003g0115	7	22	0.3182	-20	c.51+ others(37): Show c.51+14662_51+14681delCTTCCTTCCTTCCTTCCTTC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33437117	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0119 a0002c0119	a0002c0119t0001 a0002c0119t0001	a0002c0119t0001g0090 a0002c0119t0001g0090	1	21	0.0476	-20	c.52- others(37): Show c.52-36282_52-36263delTGTGTGTGTGTGTGTGTGTG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33819675	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02258.hp1 HG02559.hp2 others(9): Show HG01071.hp1 HG02258.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03516.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0011 a0019 a0026 a0033	a0001c0046 a0001c0047 a0001c0096 others(9): Show a0001c0046 a0001c0047 a0001c0096 a0002c0088 a0002c0092 a0003c0085 a0003c0121 a0006c0048 a0011c0086 a0019c0031 a0026c0117 a0033c0066	a0001c0046t0011 a0001c0047t0001 a0001c0096t0001 others(9): Show a0001c0046t0011 a0001c0047t0001 a0001c0096t0001 a0002c0088t0002 a0002c0092t0002 a0003c0085t0002 a0003c0121t0008 a0006c0048t0004 a0011c0086t0002 a0019c0031t0003 a0026c0117t0002 a0033c0066t0002	a0001c0046t0011g0066 a0001c0047t0001g0133 a0001c0096t0001g0120 others(9): Show a0001c0046t0011g0066 a0001c0047t0001g0133 a0001c0096t0001g0120 a0002c0088t0002g0071 a0002c0092t0002g0144 a0003c0085t0002g0056 a0003c0121t0008g0062 a0006c0048t0004g0002 a0011c0086t0002g0111 a0019c0031t0003g0091 a0026c0117t0002g0123 a0033c0066t0002g0004	12	33	0.3636	-20	c.107 others(37): Show c.10707-53_10707-34delTAAATAAATAAATAAATAAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	76/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33857919	GAGCCCAC others(13): Show GAGCCCACCCACTGCGGGGCC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp1 others(40): Show HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01255.hp2 HG01496.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0015 a0018 a0019 a0021 a0024 a0026 a0033 a0034 a0038 a0039 a0040 a0044 a0053	a0001c0010 a0001c0014 a0001c0046 others(37): Show a0001c0010 a0001c0014 a0001c0046 a0001c0058 a0001c0082 a0001c0083 a0001c0099 a0001c0120 a0002c0081 a0002c0089 a0002c0092 a0002c0093 a0003c0035 a0003c0065 a0003c0085 a0003c0106 a0003c0121 a0005c0022 a0005c0029 a0005c0040 a0006c0048 a0007c0072 a0007c0073 a0011c0063 a0011c0086 a0011c0122 a0012c0011 a0015c0103 a0018c0102 a0019c0031 a0021c0116 a0024c0075 a0026c0117 a0033c0066 a0034c0104 a0038c0020 a0039c0023 a0040c0038 a0044c0074 a0053c0067	a0001c0010t0001 a0001c0014t0002 a0001c0046t0011 others(37): Show a0001c0010t0001 a0001c0014t0002 a0001c0046t0011 a0001c0058t0002 a0001c0082t0002 a0001c0083t0001 a0001c0099t0002 a0001c0120t0002 a0002c0081t0002 a0002c0089t0008 a0002c0092t0002 a0002c0093t0004 a0003c0035t0004 a0003c0065t0002 a0003c0085t0002 a0003c0106t0002 a0003c0121t0008 a0005c0022t0002 a0005c0029t0001 a0005c0040t0013 a0006c0048t0004 a0007c0072t0004 a0007c0073t0001 a0011c0063t0001 a0011c0086t0002 a0011c0122t0002 a0012c0011t0009 a0015c0103t0002 a0018c0102t0001 a0019c0031t0003 a0021c0116t0004 a0024c0075t0002 a0026c0117t0002 a0033c0066t0002 a0034c0104t0002 a0038c0020t0001 a0039c0023t0004 a0040c0038t0008 a0044c0074t0002 a0053c0067t0004	a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0014t0002g0016 others(40): Show a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0014t0002g0016 a0001c0014t0002g0049 a0001c0046t0011g0066 a0001c0058t0002g0073 a0001c0082t0002g0025 a0001c0083t0001g0143 a0001c0099t0002g0139 a0001c0120t0002g0121 a0002c0081t0002g0023 a0002c0089t0008g0129 a0002c0092t0002g0144 a0002c0093t0004g0050 a0003c0035t0004g0107 a0003c0065t0002g0150 a0003c0085t0002g0056 a0003c0106t0002g0080 a0003c0121t0008g0062 a0005c0022t0002g0147 a0005c0029t0001g0075 a0005c0040t0013g0145 a0006c0048t0004g0002 a0007c0072t0004g0045 a0007c0073t0001g0138 a0011c0063t0001g0126 a0011c0086t0002g0111 a0011c0122t0002g0054 a0012c0011t0009g0067 a0012c0011t0009g0068 a0015c0103t0002g0131 a0018c0102t0001g0078 a0019c0031t0003g0091 a0021c0116t0004g0122 a0024c0075t0002g0141 a0026c0117t0002g0123 a0033c0066t0002g0004 a0034c0104t0002g0135 a0038c0020t0001g0074 a0039c0023t0004g0065 a0040c0038t0008g0015 a0044c0074t0002g0148 a0053c0067t0004g0069	43	152	0.2829	-20	c.141 others(37): Show c.14142+27_14142+46delGCCCACCCACTGCGGGGCCA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	99/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A16_chr1_153601886_153618137	153602921	CGATAGAT others(13): Show CGATAGATAGATAGATAGATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	197	0.0051	-20	c.45 others(31): Show c.4593_*4612delTATCTATCTATCTATCTATC	S100A16	ENSG00000188643.11	transcript	ENST00000368706.9	protein_coding		3964		chr1	TogoVar
S100Z_chr5_76845014_76926650	76906972	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02486.hp1 HG02809.hp1 others(4): Show HG01167.hp2 HG02486.hp1 HG02809.hp1 HG02886.hp2 HG03195.hp1 HG03195.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0005 a0001c0002t0013 a0001c0002t0015 others(1): Show a0001c0002t0005 a0001c0002t0013 a0001c0002t0015 a0002c0001t0005	a0001c0002t0005g0010 a0001c0002t0005g0011 a0001c0002t0005g0012 others(4): Show a0001c0002t0005g0010 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0171 a0001c0002t0013g0258 a0001c0002t0015g0143 a0002c0001t0005g0144	7	341	0.0205	-20	c.3- others(37): Show c.3-13743_*3-13724delGTGTATATATATATATATAT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76906974	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp1 HG02818.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0013 a0002c0001t0003 a0001c0002t0013 a0002c0001t0003	a0001c0002t0013g0134 a0002c0001t0003g0032 a0001c0002t0013g0134 a0002c0001t0003g0032	2	206	0.0097	-20	c.3- others(37): Show c.3-13741_*3-13722delGTATATATATATATATATAT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S1PR4_chr19_3173769_3185332	3175382	TCTCATGG others(13): Show TCTCATGGGACGCCTGTGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02698.hp1 HG03927.hp2 others(1): Show HG02257.hp2 HG02698.hp1 HG03927.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	4	415	0.0096	-20	c.-34 others(31): Show c.-3410_-3391delCTCATGGGACGCCTGTGCCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3386		chr19	TogoVar
SAA2_chr11_18240240_18253668	18251910	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01496.hp2 others(20): Show HG00735.hp1 HG01081.hp1 HG01496.hp2 HG01884.hp1 HG02258.hp2 HG02572.hp1 HG02735.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18952.hp2 NA18960.hp1 NA18966.hp2 NA18977.hp1 NA19007.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0001 a0002c0002t0001 a0002c0008t0001 a0001c0001t0001 a0002c0002t0001 a0002c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0016 a0002c0002t0001g0006 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0008t0001g0064	23	355	0.0648	-20	c.-33 others(31): Show c.-3332_-3313delTAAATAAATAAATAAATAAA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3243		chr11	TogoVar
SAA2_chr11_18240240_18253668	18252055	CTCTCTCT others(13): Show CTCTCTCTCTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02615.hp2 NA18973.hp1 HG02602.hp1 HG02615.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0001g0078	3	472	0.0064	-20	c.-34 others(31): Show c.-3477_-3458delAAGAAAGAAAGAGAGAGAGA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3388		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18094106	TTTCCAGG others(13): Show TTTCCAGGGTAGAGCCTGGAA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0115 a0003c0003t0001g0115	1	282	0.0035	-20	c.334 others(37): Show c.334-1802_334-1783delTTCCAGGCTCTACCCTGGAA	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding	3/11			chr11	TogoVar
SAE1_chr19_47125835_47215636	47182488	TGTGTGTG others(13): Show TGTGTGTGTGCGCGCACGCAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0231 a0001c0001t0008g0231	1	378	0.0026	-20	c.733 others(39): Show c.733+12567_733+12586delTGTGTGTGCGCGCACGCACG	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAGSIN1_chr7_6324411_6353967	6343397	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(163): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01255.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02735.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03225.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(154): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0372 a0001c0001t0001g0375 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0131 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0281 a0001c0001t0002g0355 a0001c0001t0002g0373 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0004g0013 a0001c0001t0004g0126 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0004g0186 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0004g0221 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0243 a0001c0001t0004g0262 a0001c0001t0004g0272 a0001c0001t0004g0279 a0001c0001t0004g0283 a0001c0001t0004g0370 a0001c0001t0004g0374 a0001c0001t0005g0133 a0001c0001t0005g0167 a0001c0001t0005g0197 a0001c0001t0005g0214 a0001c0001t0005g0227 a0001c0001t0005g0275 a0001c0001t0005g0280 a0001c0001t0005g0285 a0001c0001t0005g0291 a0001c0001t0005g0329 a0001c0001t0005g0345 a0001c0001t0005g0346 a0001c0001t0005g0354 a0001c0001t0005g0371 a0001c0001t0006g0234 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0352 a0001c0001t0012g0036 a0001c0001t0013g0044 a0001c0001t0028g0270 a0001c0001t0029g0274 a0001c0001t0030g0376 a0001c0001t0031g0257 a0001c0001t0032g0289 a0001c0001t0035g0164 a0001c0001t0036g0253 a0001c0001t0037g0230	166	172	0.9651	-20	c.186 others(37): Show c.186+5156_186+5175delATATATATATATATATATAT	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1			chr7	TogoVar
SAG_chr2_233302816_233352055	233316004	GCTGGTTT others(13): Show GCTGGTTTTTATCATGGATGC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0118 a0001c0006t0001g0292 a0001c0006t0001g0118 a0001c0006t0001g0292	2	366	0.0055	-20	c.76- others(31): Show c.76-68_76-49delGGTTTTTATCATGGATGCCT	SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAG_chr2_233302816_233352055	233321986	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02145.hp2 others(16): Show HG01109.hp2 HG02109.hp2 HG02145.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03540.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0064 others(14): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0007g0069	19	55	0.3455	-20	c.376 others(35): Show c.376-928_376-909delCACACACACACACACACACA	SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAG_chr2_233302816_233352055	233330471	CCCTCCCT others(13): Show CCCTCCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG03195.hp2 others(3): Show HG02109.hp1 HG02615.hp1 HG03195.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0011c0013	a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 a0011c0013t0001	a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0050 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0003t0001g0081 a0002c0005t0001g0284 a0011c0013t0001g0285	6	188	0.0319	-20	c.733 others(35): Show c.733+898_733+917delCCCTTCCTTCCTTCCTTCCT	SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAMD12_chr8_118372984_118626963	118522159	CACACACA others(13): Show CACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG02630.hp1 others(10): Show HG00639.hp2 HG02257.hp1 HG02630.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017	a0001c0001t0002g0037 a0001c0001t0002g0061 a0001c0001t0002g0180 others(10): Show a0001c0001t0002g0037 a0001c0001t0002g0061 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0125 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0006g0029 a0001c0001t0006g0053 a0001c0001t0012g0003 a0001c0001t0017g0036	13	186	0.0699	-20	c.192 others(39): Show c.192+58536_192+58555delATGTGTGTGTGTGTGTGTGT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD15_chr14_77372379_77397163	77372934	ATATATAT others(13): Show ATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	-20	c.-44 others(31): Show c.-4484_-4465delTATATATATATATATATATT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4444		chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54568690	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0004 a0001c0001t0048g0004	1	10	0.1000	-20	c.196 others(35): Show c.196+610_196+629delTATATATATATATATATATA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54626045	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0111 a0001c0001t0052g0111	1	260	0.0038	-20	c.196 others(39): Show c.196+57935_196+57954delTGTGTGTGTGTGTGCGCGCG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54626053	TGTGTGTG others(13): Show TGTGTGTGCGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02572.hp2 HG01074.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0212 a0001c0001t0009g0133 a0001c0001t0003g0212 a0001c0001t0009g0133	2	243	0.0082	-20	c.196 others(39): Show c.196+57943_196+57962delTGTGTGCGCGCGCGCGCGCG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54630908	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	47	0.0213	-20	c.196 others(39): Show c.196+62825_196+62844delTGTGTGTGTGTGTGTGTGTG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54664810	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0250 a0001c0001t0027g0250	1	123	0.0081	-20	c.197 others(39): Show c.197-37231_197-37212delACACACACACACACACACAC	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02145.hp2 HG03669.hp1 others(4): Show HG01358.hp2 HG02145.hp2 HG03669.hp1 NA18986.hp1 NA19082.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0026 a0001c0004t0062 a0002c0003t0001	a0001c0001t0001g0024 a0001c0001t0002g0128 a0001c0001t0003g0218 others(4): Show a0001c0001t0001g0024 a0001c0001t0002g0128 a0001c0001t0003g0218 a0001c0001t0007g0116 a0001c0001t0026g0127 a0001c0004t0062g0129 a0002c0003t0001g0078	7	44	0.1591	-20	c.197 others(39): Show c.197-23565_197-23546delGTGTGTGTGTGTGTGTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54723999	TGGATGGA others(13): Show TGGATGGATGGAAGGAAGGAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0040 a0001c0001t0019g0040	1	246	0.0041	-20	c.716 others(39): Show c.716-13021_716-13002delTGGATGGAAGGAAGGAAGGA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD8_chr10_75106656_75187123	75123162	TCACCCCA others(13): Show TCACCCCACCCCACCCCACCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp1 others(33): Show HG00099.hp2 HG00423.hp2 HG00544.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01261.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03942.hp1 HG04199.hp1 NA18939.hp1 NA18957.hp2 NA18964.hp2 NA18970.hp2 NA18990.hp2 NA19010.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0007t0011	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(29): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0004g0128 a0001c0001t0007g0130 a0001c0001t0011g0301 a0001c0001t0011g0302 a0001c0001t0016g0013 a0001c0001t0016g0014 a0001c0007t0011g0300	36	100	0.3600	-20	c.-16 others(39): Show c.-16+11471_-16+11490delCACCCCACCCCACCCCACCC	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMD9_chr7_93094518_93122979	93100532	TTGTTCAA others(13): Show TTGTTCAAAACATAGGTTGTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0061 a0002c0003t0017g0061	1	390	0.0026	-20	c.77 others(29): Show c.776_*795delTACAACCTATGTTTTGAACA	SAMD9	ENSG00000205413.8	transcript	ENST00000379958.3	protein_coding	3/3	776		chr7	TogoVar
SAMSN1_chr21_14480228_14551315	14493574	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20129.hp1 HG02280.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0059 a0004c0005t0001g0358 a0001c0001t0001g0059 a0004c0005t0001g0358	2	259	0.0077	-20	c.919 others(37): Show c.919+4848_919+4867delGTGTGTGTGTGTGTGTGTGT	SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding	7/7			chr21	TogoVar
SAP130_chr2_127936222_128033059	127958635	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01891.hp1 HG02257.hp1 others(6): Show HG01123.hp2 HG01891.hp1 HG02257.hp1 HG02559.hp1 HG02818.hp2 HG02922.hp1 HG03516.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(6): Show a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097	9	29	0.3103	-20	c.206 others(39): Show c.2064-3311_2064-3292delTCTCTCTCTCTCTCTCTCTC	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	15/20			chr2	TogoVar
SAP25_chr7_100567228_100578900	100570843	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA20129.hp1 NA19009.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	113	0.0177	-20	c.14 others(31): Show c.1424_*1443delTTTTTTTTTTTTTTTTTTTT	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		1384		chr7	TogoVar
SAR1B_chr5_134596149_134637828	134598535	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02258.hp2 HG02622.hp1 others(11): Show HG01433.hp1 HG02258.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0051 a0001c0001t0001g0122 a0001c0001t0001g0130 others(10): Show a0001c0001t0001g0051 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0002g0010 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0284	14	24	0.5833	-20	c.83 others(31): Show c.8395_*8414delAAAAAAAAAAAAAAAAAAAA	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding		2613		chr5	TogoVar
SAR1B_chr5_134596149_134637828	134612641	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02818.hp2 HG02976.hp1 others(2): Show HG02735.hp2 HG02818.hp2 HG02976.hp1 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0029 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0192	5	15	0.3333	-20	c.244 others(33): Show c.244+30_244+49delTTTTTTTTTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6			chr5	TogoVar
SAR1B_chr5_134596149_134637828	134617182	CGATTGTG others(13): Show CGATTGTGCCATTGCACTCCA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	320	0.0031	-20	c.178 others(37): Show c.178+3731_178+3750delTGGAGTGCAATGGCACAATC	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	3/6			chr5	TogoVar
SARDH_chr9_133658560_133743352	133734329	GCATTCAT others(13): Show GCATTCATTCATTCACTCATT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG01891.hp2 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0064 a0003c0003 a0001c0064 a0003c0003	a0001c0064t0004 a0003c0003t0001 a0001c0064t0004 a0003c0003t0001	a0001c0064t0004g0057 a0003c0003t0001g0055 a0001c0064t0004g0057 a0003c0003t0001g0055	2	260	0.0077	-20	c.-30 others(35): Show c.-30-146_-30-127delAATGAGTGAATGAATGAATG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	1/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109222000	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	392	0.0026	-20	c.137 others(37): Show c.137-1976_137-1957delATATATATATTTTTTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109222002	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	343	0.0029	-20	c.137 others(37): Show c.137-1974_137-1955delATATATATTTTTTTTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02027.hp1 HG02145.hp1 others(3): Show HG01256.hp1 HG02027.hp1 HG02145.hp1 HG02647.hp1 NA18981.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0003c0006	a0001c0001t0002 a0001c0001t0013 a0001c0003t0007 others(3): Show a0001c0001t0002 a0001c0001t0013 a0001c0003t0007 a0001c0007t0005 a0002c0002t0005 a0003c0006t0002	a0001c0001t0002g0172 a0001c0001t0013g0185 a0001c0003t0007g0218 others(3): Show a0001c0001t0002g0172 a0001c0001t0013g0185 a0001c0003t0007g0218 a0001c0007t0005g0272 a0002c0002t0005g0036 a0003c0006t0002g0078	6	124	0.0484	-20	c.157 others(37): Show c.157-2461_157-2442delTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421134	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp2 HG02647.hp2 others(2): Show HG01346.hp2 HG02055.hp2 HG02647.hp2 NA18977.hp1 NA18983.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0003c0019	a0001c0001t0017 a0002c0002t0002 a0002c0002t0015 others(2): Show a0001c0001t0017 a0002c0002t0002 a0002c0002t0015 a0002c0005t0001 a0003c0019t0006	a0001c0001t0017g0234 a0002c0002t0002g0237 a0002c0002t0015g0312 others(2): Show a0001c0001t0017g0234 a0002c0002t0002g0237 a0002c0002t0015g0312 a0002c0005t0001g0031 a0003c0019t0006g0075	5	266	0.0188	-20	c.286 others(39): Show c.286-19046_286-19027delGAAGGAAGGAAGAAAGAAAG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421146	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02602.hp1 HG01175.hp2 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0151 a0002c0002t0001g0226 a0001c0001t0001g0151 a0002c0002t0001g0226	2	205	0.0098	-20	c.286 others(39): Show c.286-18987_286-18968delGAAAGAAAGAAAGAAAGAAA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148446088	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18980.hp2 NA19009.hp1 HG03579.hp2 NA18980.hp2 NA19009.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0035 a0003c0011 a0001c0001 a0002c0035 a0003c0011	a0001c0001t0030 a0002c0035t0011 a0003c0011t0001 a0001c0001t0030 a0002c0035t0011 a0003c0011t0001	a0001c0001t0030g0043 a0002c0035t0011g0125 a0003c0011t0001g0080 a0001c0001t0030g0043 a0002c0035t0011g0125 a0003c0011t0001g0080	3	64	0.0469	-20	c.386 others(37): Show c.386+5700_386+5719delTTTTTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148486936	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 HG03130.hp2 others(2): Show HG02015.hp1 HG02080.hp2 HG03130.hp2 NA19082.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0002c0002t0001 a0002c0002t0008 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0008 a0003c0006t0001	a0001c0001t0001g0178 a0002c0002t0001g0209 a0002c0002t0008g0268 others(2): Show a0001c0001t0001g0178 a0002c0002t0001g0209 a0002c0002t0008g0268 a0002c0002t0008g0287 a0003c0006t0001g0079	5	26	0.1923	-20	c.628 others(35): Show c.628-639_628-620delATATATATATATATATATAT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148492827	TATAAATA others(13): Show TATAAATAAATAAATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02602.hp1 HG03490.hp1 others(1): Show HG02486.hp2 HG02602.hp1 HG03490.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0007 a0001c0001t0001g0152 a0002c0002t0001g0226 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0152 a0002c0002t0001g0226 a0002c0002t0003g0227	4	109	0.0367	-20	c.729 others(37): Show c.729+5142_729+5161delTAAATAAATAAATAAATAAA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148511324	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0276 a0001c0003t0012g0276	1	18	0.0556	-20	c.730 others(37): Show c.730-2969_730-2950delACACACACACACACACACAC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148514703	GGGAAATG others(13): Show GGGAAATGGAAATTTTCTCGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(35): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02135.hp2 HG02155.hp2 HG02602.hp1 HG03704.hp2 HG03831.hp1 NA18612.hp1 NA18747.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18990.hp2 NA18993.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0028 a0002c0002 others(6): Show a0001c0001 a0001c0028 a0002c0002 a0002c0004 a0003c0006 a0003c0008 a0003c0011 a0005c0016 a0011c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0028t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0003 a0003c0006t0002 a0003c0008t0003 a0003c0011t0001 a0005c0016t0001 a0011c0039t0001	a0001c0001t0001g0178 a0001c0001t0001g0289 a0001c0001t0002g0001 others(35): Show a0001c0001t0001g0178 a0001c0001t0001g0289 a0001c0001t0002g0001 a0001c0001t0002g0142 a0001c0001t0004g0117 a0001c0001t0006g0183 a0001c0028t0001g0046 a0002c0002t0001g0035 a0002c0002t0001g0055 a0002c0002t0001g0153 a0002c0002t0001g0216 a0002c0002t0001g0226 a0002c0002t0001g0238 a0002c0002t0002g0023 a0002c0002t0002g0032 a0002c0002t0002g0141 a0002c0002t0002g0253 a0002c0002t0003g0019 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0044 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0180 a0002c0002t0003g0198 a0002c0002t0003g0301 a0002c0002t0003g0320 a0002c0004t0003g0106 a0003c0006t0002g0077 a0003c0008t0003g0065 a0003c0008t0003g0066 a0003c0008t0003g0070 a0003c0008t0003g0071 a0003c0008t0003g0076 a0003c0011t0001g0080 a0005c0016t0001g0029 a0005c0016t0001g0246 a0011c0039t0001g0292	38	320	0.1188	-20	c.862 others(35): Show c.862+250_862+269delAAATGGAAATTTTCTCGAGG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148537776	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp2 HG01884.hp2 others(11): Show HG00323.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG02004.hp2 HG02145.hp1 HG02145.hp2 HG02698.hp1 HG03209.hp1 HG03688.hp2 HG04115.hp1 NA18522.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0003c0006 a0006c0022	a0001c0001t0002 a0001c0003t0005 a0001c0003t0007 others(6): Show a0001c0001t0002 a0001c0003t0005 a0001c0003t0007 a0001c0009t0014 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0006t0002 a0006c0022t0002	a0001c0001t0002g0251 a0001c0003t0005g0285 a0001c0003t0007g0218 others(11): Show a0001c0001t0002g0251 a0001c0003t0005g0285 a0001c0003t0007g0218 a0001c0003t0007g0270 a0001c0003t0007g0282 a0001c0003t0007g0283 a0001c0009t0014g0094 a0002c0002t0001g0262 a0002c0002t0002g0097 a0002c0002t0002g0141 a0002c0002t0002g0168 a0002c0002t0003g0160 a0003c0006t0002g0062 a0006c0022t0002g0028	14	50	0.2800	-20	c.209 others(39): Show c.2096-2630_2096-2611delTGTGTGTGTGTGTGTGTGTG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAT1_chrX_23778173_23791210	23781874	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18986.hp1 NA19065.hp1 HG02040.hp1 NA18986.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	28	0.1071	-20	c.-14 others(31): Show c.-1477_-1458delAAAAAAAAAAAAAAAAAAAA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		1298		chrX	TogoVar
SATB1_chr3_18340377_18430339	18401097	ACTTCCCA others(13): Show ACTTCCCAAACCTCCTGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19030.hp1 HG03225.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0086 a0001c0001t0034 a0001c0001t0086	a0001c0001t0034g0309 a0001c0001t0086g0137 a0001c0001t0034g0309 a0001c0001t0086g0137	2	350	0.0057	-20	c.640 others(37): Show c.640-3827_640-3808delGCTGCAGGAGGTTTGGGAAG	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding	5/10			chr3	TogoVar
SATB2_chr2_199264505_199462939	199386704	GCGCGCGC others(13): Show GCGCGCGCGCGCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02027.hp2 others(1): Show HG01109.hp2 HG01952.hp1 HG02027.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0026 a0001c0001t0032	a0001c0001t0001g0156 a0001c0001t0011g0003 a0001c0001t0026g0071 others(1): Show a0001c0001t0001g0156 a0001c0001t0011g0003 a0001c0001t0026g0071 a0001c0001t0032g0253	4	221	0.0181	-20	c.347 others(37): Show c.347-4904_347-4885delTGTGTGTGCGCGCGCGCGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SATB2_chr2_199264505_199462939	199386706	GCGCGCGC others(13): Show GCGCGCGCGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	217	0.0046	-20	c.347 others(37): Show c.347-4906_347-4887delTGTGTGTGTGCGCGCGCGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar

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