Joint Open Genome and Omics Platform (JoGo)

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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
S1PR4_chr19_3173769_3185332	3177895	CTCGGGCT others(71): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02071.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG02071.hp1 HG03239.hp1 HG03710.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0000 a0004c0008t0001g0000 a0001c0001t0001g0000 a0004c0008t0001g0000	5	418	0.0120	-78	c.-89 others(87): Show c.-897_-820delTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		873		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178012	ATCGGGCT others(71): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03209.hp2 HG02738.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	418	0.0048	-78	c.-78 others(87): Show c.-780_-703delTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		756		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178090	CTCGGGCT others(71): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp1 others(26): Show HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG01069.hp1 HG01070.hp1 HG01106.hp2 HG01496.hp2 HG01978.hp1 HG02004.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02965.hp1 HG03834.hp1 HG03927.hp1 HG04199.hp1 NA18954.hp2 NA18959.hp1 NA18978.hp1 NA18997.hp2 NA19011.hp2 NA19012.hp2 NA19064.hp2 NA19077.hp1 NA19080.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	29	418	0.0694	-78	c.-70 others(87): Show c.-702_-625delTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		678		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178169	TCGGGCTC others(71): Show TCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCT GGGCCTCAGTTTCCCCTTCTGCAACGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0000 a0001c0011t0001g0000	1	418	0.0024	-78	c.-62 others(87): Show c.-623_-546delCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCAC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		599		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178201	CAACGCAT others(71): Show CAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCACCGG GCTCTCTGGGCCTCAGTTTCCTCTTCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01993.hp1 HG01978.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	418	0.0048	-78	c.-59 others(87): Show c.-591_-514delAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCACCGGGCTCTCTGGGCCTCAGTTTCCTCTTCTGT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		567		chr19	TogoVar
SAMD11_chr1_918923_949574	936234	TGGTCCCG others(71): Show TGGTCCCGCCTCCTAGGGCTCCTGGACGGAAGGGGTCCCCGGTCCCGCCT CCTAGGGCTCCTGGACGGAGGGGGTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG01123.hp2 others(44): Show HG00609.hp1 HG00673.hp2 HG01123.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01981.hp2 HG02004.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02976.hp1 HG03927.hp1 NA18747.hp1 NA18940.hp2 NA18952.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0014 a0017 a0026	a0001c0001 a0001c0004 a0001c0021 others(6): Show a0001c0001 a0001c0004 a0001c0021 a0002c0003 a0002c0018 a0009c0014 a0014c0027 a0017c0050 a0026c0048	a0001c0001t0014 a0001c0004t0001 a0001c0021t0004 others(8): Show a0001c0001t0014 a0001c0004t0001 a0001c0021t0004 a0002c0003t0004 a0002c0003t0009 a0002c0003t0024 a0002c0018t0004 a0009c0014t0004 a0014c0027t0004 a0017c0050t0004 a0026c0048t0004	a0001c0001t0014g0080 a0001c0004t0001g0096 a0001c0021t0004g0328 others(41): Show a0001c0001t0014g0080 a0001c0004t0001g0096 a0001c0021t0004g0328 a0002c0003t0004g0011 a0002c0003t0004g0022 a0002c0003t0004g0222 a0002c0003t0004g0229 a0002c0003t0004g0230 a0002c0003t0004g0235 a0002c0003t0004g0236 a0002c0003t0004g0237 a0002c0003t0004g0238 a0002c0003t0004g0239 a0002c0003t0004g0240 a0002c0003t0004g0241 a0002c0003t0004g0242 a0002c0003t0004g0243 a0002c0003t0004g0245 a0002c0003t0004g0246 a0002c0003t0004g0247 a0002c0003t0004g0248 a0002c0003t0004g0249 a0002c0003t0004g0250 a0002c0003t0004g0251 a0002c0003t0004g0252 a0002c0003t0004g0253 a0002c0003t0004g0254 a0002c0003t0004g0255 a0002c0003t0004g0256 a0002c0003t0004g0305 a0002c0003t0004g0306 a0002c0003t0009g0228 a0002c0003t0024g0233 a0002c0018t0004g0225 a0002c0018t0004g0226 a0002c0018t0004g0227 a0009c0014t0004g0257 a0009c0014t0004g0258 a0009c0014t0004g0259 a0009c0014t0004g0260 a0014c0027t0004g0231 a0014c0027t0004g0232 a0017c0050t0004g0234 a0026c0048t0004g0244	47	434	0.1083	-78	c.967 others(93): Show c.967+407_967+484delGGGGGTCCCCGGTCCCGCCTCCTAGGGCTC CTGGACGGAAGGGGTCCCCGGTCCCGCCTCCTAGGGCTCCTGGACGGA	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCGB2A2_chr11_62265158_62278160	62277856	CTCCCCCT others(71): Show CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCCTCTCGCT CTCCGTCTCCGTCTCCCTCTCGCTCTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02970.hp1 others(1): Show HG02451.hp2 HG02723.hp2 HG02970.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0003t0001 a0003c0006t0001 a0001c0001t0001 a0001c0003t0001 a0003c0006t0001	a0001c0001t0001g0033 a0001c0003t0001g0065 a0001c0003t0001g0066 others(1): Show a0001c0001t0001g0033 a0001c0003t0001g0065 a0001c0003t0001g0066 a0003c0006t0001g0071	4	390	0.0103	-78	c.48 others(89): Show c.4862_*4939delTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTC CCTCTCCCTCTCGCTCTCCGTCTCCGTCTCCCTCTCGCTCTCCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4697		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289015	TCCCGTGT others(71): Show TCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGAGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0148 a0003c0004t0003g0148	1	290	0.0035	-78	c.166 others(97): Show c.1662+1000_1662+1077delCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC CC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRN1_chr7_29915109_29994801	29961644	GGCCGGGC others(71): Show GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCTTCACTTCCCAGTAGGGGCC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	274	0.0037	-78	c.160 others(95): Show c.160-6362_160-6285delGGCCCCTACTGGGAAGTGAAGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7			chr7	TogoVar
SCYL2_chr12_100262177_100346715	100294278	GGACGGGG others(71): Show GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0208 a0001c0002t0008g0208	1	220	0.0046	-78	c.335 others(95): Show c.335+2639_335+2716delAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC14L1_chr17_77135969_77222101	77215773	CTAGTAGG others(71): Show CTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGGCTGGTAGGTAG GGTTAGTAGGTAGGGCTAGTAGGTAGGGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0109 a0001c0001t0041g0109	1	430	0.0023	-78	c.17 others(89): Show c.1789_*1866delCTGGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGG TAGGGTTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGG	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	1789	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77215890	TTCGTAGG others(71): Show TTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGTTCGTAGGTAG GGTTCGTAGGTAGGGTTAGGTAGGGTTCG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03139.hp1 HG02109.hp2 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0053 a0001c0001t0019g0107 a0001c0001t0019g0108 a0001c0001t0019g0053 a0001c0001t0019g0107 a0001c0001t0019g0108	3	430	0.0070	-78	c.18 others(89): Show c.1869_*1946delCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTA GGGTTCGTAGGTAGGGTTCGTAGGTAGGGTTAGGTAGGGTTCGT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	1869	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216331	AGTAGGTA others(71): Show AGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGG CTAGTAGGTAGGGCTAGTAGGTAGGGTTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp1 NA19058.hp1 NA18982.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0002 a0001c0002t0029g0343 a0001c0002t0029g0002 a0001c0002t0029g0343	2	430	0.0047	-78	c.23 others(89): Show c.2321_*2398delAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTA GGGCTAGTAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAGGGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2321	INFO_REALIGN_3_PRIME	chr17	TogoVar
SELENOF_chr1_86857445_86919126	86899431	CCCTCCCG others(71): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGTCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG03453.hp2 others(4): Show HG02451.hp2 HG02630.hp1 HG03453.hp2 HG03486.hp2 HG04184.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0005g0003 others(3): Show a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0005g0003 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052	7	226	0.0310	-78	c.252 others(95): Show c.252+3772_252+3849delTGAGGGACGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	2/4			chr1	TogoVar
SHISA9_chr16_12896598_13245416	13198202	ATGTGTGT others(71): Show ATGTGTGTATATGCATACATATATACTTGTGTGTATATGCATACATATAT ACTTGTGTGTATATGCATACATATATACT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp1 others(40): Show HG00099.hp1 HG00099.hp2 HG00544.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04204.hp1 NA18952.hp1 NA18955.hp2 NA19007.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0034 a0001c0001t0035 a0001c0001t0073 a0001c0001t0077 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0092 a0001c0001t0093 a0001c0001t0096 a0001c0002t0006 a0001c0002t0009 a0001c0002t0082	a0001c0001t0001g0008 a0001c0001t0001g0087 a0001c0001t0001g0120 others(40): Show a0001c0001t0001g0008 a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0002g0012 a0001c0001t0002g0045 a0001c0001t0002g0173 a0001c0001t0002g0207 a0001c0001t0003g0180 a0001c0001t0004g0025 a0001c0001t0004g0203 a0001c0001t0005g0095 a0001c0001t0008g0050 a0001c0001t0008g0075 a0001c0001t0008g0111 a0001c0001t0008g0128 a0001c0001t0011g0123 a0001c0001t0011g0139 a0001c0001t0011g0155 a0001c0001t0012g0078 a0001c0001t0012g0145 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0052 a0001c0001t0014g0077 a0001c0001t0017g0194 a0001c0001t0018g0131 a0001c0001t0021g0053 a0001c0001t0023g0119 a0001c0001t0025g0175 a0001c0001t0034g0121 a0001c0001t0035g0140 a0001c0001t0073g0109 a0001c0001t0077g0198 a0001c0001t0084g0151 a0001c0001t0087g0206 a0001c0001t0088g0018 a0001c0001t0089g0143 a0001c0001t0092g0144 a0001c0001t0093g0102 a0001c0001t0096g0103 a0001c0002t0006g0117 a0001c0002t0009g0181 a0001c0002t0082g0186	43	214	0.2009	-78	c.692 others(95): Show c.692-5110_692-5033delGTGTATATGCATACATATATACTTGTGT GTATATGCATACATATATACTTGTGTGTATATGCATACATATATACTTGT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401500	CCCCCGGC others(71): Show CCCCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCTCACCCCCGGCCCCGCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 NA18522.hp1 NA18980.hp2 others(1): Show HG02056.hp1 NA18522.hp1 NA18980.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0209 a0001c0001t0001g0237	4	242	0.0165	-78	c.43 others(89): Show c.4318_*4395delTGTGAGCGGGGCCGGGGGTGAGCGGGCCGGGGGT GAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAACGGGGCCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4215		chr11	TogoVar
SIGIRR_chr11_400716_419999	401949	ACCCCCGG others(71): Show ACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTC CACTGACCCCGGCCCCGCTCACCCCGGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 NA19030.hp1 HG02258.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0224 a0001c0001t0001g0176 a0001c0001t0001g0224	2	242	0.0083	-78	c.38 others(89): Show c.3869_*3946delGTCCGGGGTGAGCGGGGCCGGGGTCAGTGGAGCC GGGGGTGAGCGGGGCCGGGGGTCGGGGGTGAGCGGGGCCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3766		chr11	TogoVar
SIGIRR_chr11_400716_419999	402812	GGCCCCGC others(71): Show GGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGGAC CCGCTCACCCCGACCCCGCTCACCCCGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	242	0.0041	-78	c.30 others(89): Show c.3006_*3083delTCCGGGGTGAGCGGGGTCGGGGTGAGCGGGTCCC GGGGTGAGCGGGGCGGGGGTGAGCGGGGCGGGGGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2903		chr11	TogoVar
SIGIRR_chr11_400716_419999	411433	GAGGGGGG others(71): Show GAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTG CCCAGCTCTGACCATGTCTGGATGCAGTC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	242	0.0041	-78	c.-15 others(97): Show c.-153-1484_-153-1407delGACTGCATCCAGACATGGTCAGAGCT GGGCACCCCTCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCC CT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIMC1_chr5_176233424_176350989	176306176	CCTGCCCG others(71): Show CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	360	0.0028	-78	c.173 others(97): Show c.1735-7485_1735-7408delTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIPA1L3_chr19_37902208_38213369	38123800	GCGGCCGG others(71): Show GCGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACAGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	164	0.0061	-78	c.286 others(97): Show c.2868+3919_2868+3996delCGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCG GC	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	9/21			chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38123801	CGGCCGGG others(71): Show CGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACAGGGCGGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00642.hp1 others(55): Show HG00140.hp2 HG00558.hp1 HG00642.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01361.hp1 HG01515.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03834.hp2 HG06807.hp1 NA18906.hp1 NA18954.hp2 NA18973.hp1 NA18973.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19068.hp1 NA19068.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0010 a0011 a0020 a0021 a0023	a0001c0001 a0001c0004 a0001c0032 others(10): Show a0001c0001 a0001c0004 a0001c0032 a0002c0002 a0002c0015 a0002c0020 a0004c0039 a0005c0007 a0010c0013 a0011c0016 a0020c0037 a0021c0023 a0023c0019	a0001c0001t0002 a0001c0001t0019 a0001c0004t0003 others(17): Show a0001c0001t0002 a0001c0001t0019 a0001c0004t0003 a0001c0032t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0015 a0002c0002t0020 a0002c0015t0018 a0002c0020t0001 a0004c0039t0001 a0005c0007t0002 a0010c0013t0001 a0011c0016t0002 a0011c0016t0004 a0020c0037t0001 a0021c0023t0002 a0023c0019t0003	a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0056 others(55): Show a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0067 a0001c0001t0002g0079 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0159 a0001c0001t0019g0022 a0001c0004t0003g0070 a0001c0032t0003g0023 a0002c0002t0001g0014 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0074 a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0002g0028 a0002c0002t0002g0051 a0002c0002t0003g0017 a0002c0002t0003g0025 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0053 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0116 a0002c0002t0003g0147 a0002c0002t0008g0031 a0002c0002t0008g0082 a0002c0002t0015g0117 a0002c0002t0020g0038 a0002c0015t0018g0108 a0002c0020t0001g0133 a0004c0039t0001g0123 a0005c0007t0002g0090 a0005c0007t0002g0126 a0005c0007t0002g0150 a0010c0013t0001g0050 a0010c0013t0001g0128 a0011c0016t0002g0006 a0011c0016t0004g0004 a0020c0037t0001g0129 a0021c0023t0002g0019 a0023c0019t0003g0146	58	164	0.3537	-78	c.286 others(97): Show c.2868+3956_2868+4033delTGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GG	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC15A3_chr11_60932084_60957176	60949363	GGAAAGAA others(71): Show GGAAAGAAAGAGAAAGAAAGAGAGAGAGAGAAAGAGAAAGAAAGGAAGAA AGAAAGAAAGAAGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	382	0.0026	-78	c.558 others(95): Show c.558+1553_558+1630delTTTCTTTCTTTCTTTCCTTCTTTCTTTC TTTCTTCCTTTCTTTCTCTTTCTCTCTCTCTCTTTCTTTCTCTTTCTTTC	SLC15A3	ENSG00000110446.12	transcript	ENST00000227880.8	protein_coding	1/7			chr11	TogoVar
SLC17A7_chr19_49424401_49446527	49444173	TTTTTTTC others(71): Show TTTTTTTCTTTCCTTCCTTCATTCCTTCTTTCTCTGTCTTCCTTCCTTTC CCCTTCCTCCTTCCTTTTTCTTTCTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02896.hp2 HG01884.hp2 HG02257.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0075	3	414	0.0073	-78	c.-28 others(89): Show c.-2872_-2795delGAAGAGAAAGAAAAAGGAAGGAGGAAGGGGAAAG GAAGGAAGACAGAGAAAGAAGGAATGAAGGAAGGAAAGAAAAAA	SLC17A7	ENSG00000104888.10	transcript	ENST00000221485.8	protein_coding		2647		chr19	TogoVar
SLC25A11_chr17_4932130_4945046	4933822	AAGCCCGA others(71): Show AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCA CCCCGGAGCCCACCTCAGAGCCCGCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00673.hp2 others(76): Show HG00099.hp2 HG00423.hp2 HG00673.hp2 HG01109.hp1 HG01123.hp2 HG01256.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02523.hp2 HG02735.hp1 HG02922.hp2 HG03017.hp2 HG03225.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19064.hp1 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0007 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0007 a0001c0001t0009g0013	79	434	0.1820	-78	c.38 others(89): Show c.3841_*3918delGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTC GGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCT	SLC25A11	ENSG00000108528.14	transcript	ENST00000225665.12	protein_coding		3307		chr17	TogoVar
SLC28A1_chr15_84879662_84950798	84928538	CTTTCTTT others(71): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00738.hp1 others(42): Show HG00099.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01433.hp1 HG01433.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA18945.hp2 NA18947.hp2 NA18954.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0009 a0010 a0012	a0001c0004 a0001c0012 a0002c0009 others(7): Show a0001c0004 a0001c0012 a0002c0009 a0002c0015 a0002c0050 a0005c0006 a0009c0017 a0010c0023 a0010c0029 a0012c0022	a0001c0004t0001 a0001c0012t0001 a0002c0009t0001 others(9): Show a0001c0004t0001 a0001c0012t0001 a0002c0009t0001 a0002c0009t0014 a0002c0015t0001 a0002c0015t0003 a0002c0050t0001 a0005c0006t0001 a0009c0017t0001 a0010c0023t0001 a0010c0029t0001 a0012c0022t0001	a0001c0004t0001g0187 a0001c0004t0001g0240 a0001c0004t0001g0246 others(41): Show a0001c0004t0001g0187 a0001c0004t0001g0240 a0001c0004t0001g0246 a0001c0004t0001g0383 a0001c0004t0001g0384 a0001c0004t0001g0385 a0001c0012t0001g0379 a0002c0009t0001g0001 a0002c0009t0001g0016 a0002c0009t0001g0021 a0002c0009t0001g0023 a0002c0009t0001g0024 a0002c0009t0001g0029 a0002c0009t0001g0067 a0002c0009t0001g0173 a0002c0009t0001g0301 a0002c0009t0001g0302 a0002c0009t0001g0324 a0002c0009t0001g0362 a0002c0009t0014g0188 a0002c0015t0001g0272 a0002c0015t0003g0182 a0002c0050t0001g0017 a0005c0006t0001g0066 a0005c0006t0001g0073 a0005c0006t0001g0094 a0005c0006t0001g0164 a0005c0006t0001g0291 a0005c0006t0001g0295 a0005c0006t0001g0296 a0005c0006t0001g0297 a0005c0006t0001g0372 a0005c0006t0001g0373 a0009c0017t0001g0132 a0009c0017t0001g0280 a0009c0017t0001g0294 a0009c0017t0001g0299 a0010c0023t0001g0026 a0010c0023t0001g0341 a0010c0029t0001g0115 a0010c0029t0001g0336 a0012c0022t0001g0254 a0012c0022t0001g0255 a0012c0022t0001g0258	45	396	0.1136	-78	c.108 others(97): Show c.1083+4448_1084-4510delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCT TT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC39A14_chr8_22362278_22427736	22396422	GAGAGAGA others(71): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18985.hp1 HG00741.hp1 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0004 a0002c0006t0019 a0001c0003t0004 a0002c0006t0019	a0001c0003t0004g0049 a0002c0006t0019g0284 a0001c0003t0004g0049 a0002c0006t0019g0284	2	324	0.0062	-78	c.-15 others(95): Show c.-15-8273_-15-8196delAGAGAGAGAGAGAGAGAGAGAGAGAGGG GGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A8_chr4_102256666_102350482	102320409	AATATATA others(71): Show AATATATATATGAGAATATATATATATGAGAATATATATATGAGAGTATA TATACATATGAGAATATATATATGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01070.hp1 others(37): Show HG00280.hp1 HG00423.hp2 HG01070.hp1 HG01167.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01978.hp2 HG02135.hp1 HG02148.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02615.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG04199.hp2 NA18942.hp2 NA18943.hp1 NA18971.hp1 NA18972.hp2 NA18986.hp2 NA18995.hp2 NA18998.hp2 NA19004.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp2 NA19079.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0006t0001 a0002c0012t0001	a0001c0001t0002g0135 a0001c0001t0003g0101 a0001c0001t0003g0102 others(32): Show a0001c0001t0002g0135 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0002t0001g0019 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0001g0163 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0002g0008 a0001c0002t0002g0020 a0001c0002t0002g0109 a0001c0002t0002g0114 a0001c0002t0002g0119 a0001c0002t0002g0134 a0001c0002t0003g0104 a0001c0002t0003g0107 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0004g0010 a0001c0002t0004g0116 a0001c0002t0007g0115 a0001c0002t0009g0130 a0001c0006t0001g0009 a0002c0012t0001g0237	40	266	0.1504	-78	c.220 others(95): Show c.220-4657_220-4580delACTCTCATATATATATTCTCATATGTAT ATATACTCTCATATATATATTCTCATATATATATATTCTCATATATATAT	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SLC66A2_chr18_79897420_79956653	79919815	ACGGGAAC others(71): Show ACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGA GTGAGAGGTCAGGGTCAGTGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03654.hp2 HG04115.hp2 others(7): Show HG01261.hp2 HG03654.hp2 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18966.hp2 NA18975.hp2 NA19077.hp1 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0022	a0001c0001t0003g0309 a0001c0001t0003g0313 a0001c0001t0003g0323 others(7): Show a0001c0001t0003g0309 a0001c0001t0003g0313 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0334 a0001c0001t0007g0031 a0001c0001t0012g0325 a0001c0001t0012g0328 a0001c0001t0012g0332 a0001c0001t0022g0310	10	352	0.0284	-78	c.392 others(93): Show c.392-493_392-416delGTCTCTCCTCACTGACCCTGACCTCTCACT CGGTTCCTGTCTCTCCTCCTCTGACCCTGACCTCTCCCTCGGTTCCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919999	GAGGAGAG others(71): Show GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGTGAGAGGTCAAGGTCAGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02155.hp2 NA19062.hp1 others(2): Show HG00597.hp1 HG02155.hp2 NA19062.hp1 NA19084.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0016 a0001c0001t0004g0132 a0001c0001t0004g0134 others(2): Show a0001c0001t0004g0016 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0176 a0001c0001t0009g0130	5	352	0.0142	-78	c.392 others(93): Show c.392-677_392-600delTCCACTGACCTTGACCTCTCACTCGGTTCC TGTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920541	CAGGAACC others(71): Show CAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGG GAGAGGTCAGGGTCAGAGGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	352	0.0028	-78	c.392 others(95): Show c.392-1219_392-1142delTGTCTCTCCTCCTCTGACCCTGACCTCT CCCTCGGTTCCCGTCTCTCCTCACTGACCTTGACCTCTCACTCGGTTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920846	ACAGGAAC others(71): Show ACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAG GGAGAGGTCAGGGTCAGAGGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0169 a0001c0001t0010g0169	1	352	0.0028	-78	c.392 others(95): Show c.392-1524_392-1447delGTCTCTCCTCCTCTGACCCTGACCTCTC CCTCGGTTCCCGTCTCTCCTCACTGACCTTGACCTCTCACTCGGTTCCTG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920847	CAGGAACC others(71): Show CAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGG GAGAGGTCAGGGTCAGAGGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02717.hp2 NA18942.hp2 HG02273.hp2 HG02717.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0007g0271 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0007g0271	3	352	0.0085	-78	c.392 others(95): Show c.392-1525_392-1448delTGTCTCTCCTCCTCTGACCCTGACCTCT CCCTCGGTTCCCGTCTCTCCTCACTGACCTTGACCTCTCACTCGGTTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920884	ACGGGAAC others(71): Show ACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0319 a0001c0001t0003g0319	1	352	0.0028	-78	c.392 others(95): Show c.392-1562_392-1485delGTCTCTCCTCACTGACCTTGACCTCTCC CTCGGTTCCTGTCTCTCCTCCTCTGACCCTGACCTCTCCCTCGGTTCCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921151	ACAGGAAC others(71): Show ACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0263 a0001c0004t0008g0263	1	352	0.0028	-78	c.392 others(95): Show c.392-1829_392-1752delGTCTCTCCTCACTGACCTTGACCTCTCC CTCGGTTCCCGTCTCTCCTCCTCTGACCCTGACCTCTCCCTCGGTTCCTG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921420	CAGGAACC others(71): Show CAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGG GAGAGGTCAGGGTCAGAGGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0337 a0001c0001t0027g0337	1	352	0.0028	-78	c.392 others(95): Show c.392-2098_392-2021delTGTCTCTCCTCCTCTGACCCTGACCTCT CCCTCGGTTCCCGTCTCTCCTCACTGACCTTGACCTCTCACTCGGTTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A13_chr12_215622_267836	239185	TGCTCTAC others(71): Show TGCTCTACCACGTCCACCCTGTTCCCTGCACACATGGGTTGTGTTGGATC CATTCCCACACCATTCCCTTCAGCCACCG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG00735.hp1 others(50): Show HG00423.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01516.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA18965.hp2 NA18967.hp1 NA18983.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19085.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0002c0003 a0004c0018 a0009c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0002c0003t0001 a0004c0018t0001 a0009c0012t0001	a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0001g0126 others(49): Show a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0002t0001g0018 a0001c0002t0001g0104 a0001c0002t0001g0157 a0001c0002t0001g0185 a0001c0002t0001g0189 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0006t0001g0139 a0001c0006t0001g0144 a0001c0009t0001g0290 a0002c0003t0001g0178 a0002c0003t0001g0190 a0002c0003t0001g0191 a0004c0018t0001g0160 a0009c0012t0001g0149	53	442	0.1199	-78	c.479 others(95): Show c.479-1253_479-1176delCGGTGGCTGAAGGGAATGGTGTGGGAAT GGATCCAACACAACCCATGTGTGCAGGGAACAGGGTGGACGTGGTAGAGC	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	239223	TTGTGTTG others(71): Show TTGTGTTGGATCCATTCCCACACCATTCCCTTCAGCCACCGGCTCTACCA CGTCCACCCTGTTCCCTGCACACGTGGGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01943.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0013 a0001c0020 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0008t0001 a0001c0013t0001 a0001c0020t0001 a0002c0003t0001 a0002c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(126): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0242 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0289 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0002t0001g0013 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0154 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0001g0332 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0343 a0001c0002t0001g0347 a0001c0002t0001g0358 a0001c0002t0001g0369 a0001c0002t0001g0378 a0001c0002t0001g0379 a0001c0002t0001g0383 a0001c0002t0001g0384 a0001c0002t0001g0388 a0001c0002t0002g0364 a0001c0008t0001g0102 a0001c0008t0001g0161 a0001c0013t0001g0322 a0001c0020t0001g0318 a0002c0003t0001g0366 a0002c0003t0001g0368 a0002c0007t0001g0111	146	442	0.3303	-78	c.479 others(95): Show c.479-1291_479-1214delCCCCACGTGTGCAGGGAACAGGGTGGAC GTGGTAGAGCCGGTGGCTGAAGGGAATGGTGTGGGAATGGATCCAACACA	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC7A1_chr13_29504414_29600688	29558492	AGGGGGAG others(71): Show AGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAATGAGGGGGAGAG AATGTGAGTGATGGGGAGAGAATGTGAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00621.hp2 others(41): Show HG00140.hp2 HG00408.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01993.hp2 HG02040.hp2 HG02080.hp2 HG02300.hp2 HG02523.hp2 HG03654.hp1 HG03669.hp2 HG04115.hp2 HG04228.hp2 NA18940.hp1 NA18942.hp1 NA18946.hp2 NA18948.hp2 NA18953.hp1 NA18957.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18981.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA19001.hp1 NA19012.hp2 NA19064.hp2 NA19066.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 others(1): Show a0001c0001 a0001c0002 a0001c0020 a0001c0021	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0019 a0001c0002t0043 a0001c0020t0005 a0001c0021t0002	a0001c0001t0001g0129 a0001c0001t0001g0169 a0001c0001t0001g0187 others(38): Show a0001c0001t0001g0129 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0003g0146 a0001c0002t0001g0162 a0001c0002t0002g0010 a0001c0002t0002g0084 a0001c0002t0002g0111 a0001c0002t0002g0140 a0001c0002t0002g0151 a0001c0002t0002g0155 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0298 a0001c0002t0002g0313 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0143 a0001c0002t0004g0147 a0001c0002t0004g0181 a0001c0002t0007g0001 a0001c0002t0007g0015 a0001c0002t0007g0018 a0001c0002t0007g0020 a0001c0002t0007g0021 a0001c0002t0007g0032 a0001c0002t0007g0033 a0001c0002t0007g0034 a0001c0002t0007g0035 a0001c0002t0019g0019 a0001c0002t0043g0156 a0001c0020t0005g0312 a0001c0021t0002g0164	44	330	0.1333	-78	c.-11 others(97): Show c.-114-4710_-114-4633delACTCACATTCTCTCCCCATCACTCAC ATTCTCTCCCCCTCATTCACATTCTCTCCCCCTCACTCACATTCACTCCC CC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC8A1_chr2_40092270_40457090	40200173	GATATATA others(71): Show GATATATATATATATATATTTATATATATATATAAATATATATATATTTT TTTATATATATATATAAATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0073 a0003c0006t0073	a0003c0006t0073g0156 a0003c0006t0073g0156	1	236	0.0042	-78	c.180 others(99): Show c.1809-21758_1809-21681delATATATATATATTTATATATATAT ATAAAAAAATATATATATATTTATATATATATATAAATATATATATATAT ATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SMG6_chr17_2054843_2308785	2238872	ACAAAAGA others(71): Show ACAAAAGAAAAAACTGAAAGCAGAAGGATATAAGTTAGAGTAACTTCAAA TGTGAGATGTGAGAGAAGGTGGATCTATT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01884.hp1 HG02622.hp2 HG01070.hp1 HG01884.hp1 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0002g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0002g0125	3	278	0.0108	-78	c.272 others(97): Show c.2724-2313_2724-2236delAATAGATCCACCTTCTCTCACATCTC ACATTTGAAGTTACTCTAACTTATATCCTTCTGCTTTCAGTTTTTTCTTT TG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	9/18			chr17	TogoVar
SMIM14_chr4_39541336_39643865	39619190	TTAATTTA others(71): Show TTAATTTATTCTATATATCAATAAATATAATTTATTCTATATATCAATAA ATATAATTTATTCTATATATCAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	344	0.0029	-78	c.-35 others(97): Show c.-35-14088_-35-14011delTATTTATTGATATATAGAATAAATTA TATTTATTGATATATAGAATAAATTATATTTATTGATATATAGAATAAAT TA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMOC2_chr6_168436184_168672992	168505121	AGATGAAT others(71): Show AGATGAATGACTGAATGAAATGTCCATCTCTCAGATGCCAGATGAATGAG TGAATGAAATGTCTGTCTCTCAGATGCTG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	180	0.0056	-78	c.85- others(93): Show c.85-4731_85-4654delTGTCTCTCAGATGCTGGATGAATGACTGAA TGAAATGTCCATCTCTCAGATGCCAGATGAATGAGTGAATGAAATGTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168505184	TGTCTCTC others(71): Show TGTCTCTCAGATGCTGGATGAATGACTGAATGAAATGTCCATCTCTCAGA TGCCAGATGAATGAGTGAATGAAATGTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00609.hp2 others(81): Show HG00280.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01167.hp1 HG01243.hp1 HG01346.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp1 HG03516.hp1 HG03654.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18963.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19012.hp1 NA19030.hp1 NA19065.hp2 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0003t0001 a0001c0004t0005 a0001c0007t0005 a0001c0008t0002 a0001c0011t0006 a0001c0013t0002 a0002c0010t0001	a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0108 others(81): Show a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0171 a0001c0001t0006g0128 a0001c0001t0015g0163 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0180 a0001c0002t0005g0069 a0001c0002t0007g0053 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0014g0005 a0001c0003t0001g0155 a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0005g0051 a0001c0007t0005g0050 a0001c0008t0002g0042 a0001c0011t0006g0167 a0001c0013t0002g0033 a0002c0010t0001g0130	84	180	0.4667	-78	c.85- others(93): Show c.85-4691_85-4614delATCTCTCAGATGCCAGATGAATGAGTGAAT GAAATGTCCGTCTCTCAGATGCTGGATGAATGACTGAATGAAATGTCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG1_chr8_49906407_50801692	50734772	TATATATA others(71): Show TATATATAGATATCTATATATATGGACATATATATAGATATCTATATATA TGGACATATATATATCTATATATATGGAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG03098.hp1 others(2): Show HG02145.hp1 HG02622.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0028 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0028 a0001c0001t0049 a0001c0002t0010	a0001c0001t0002g0032 a0001c0001t0004g0074 a0001c0001t0028g0093 others(2): Show a0001c0001t0002g0032 a0001c0001t0004g0074 a0001c0001t0028g0093 a0001c0001t0049g0106 a0001c0002t0010g0028	5	106	0.0472	-78	c.128 others(99): Show c.1285-17221_1285-17144delGATATCTATATATATGGACATATA TATAGATATCTATATATATGGACATATATATATCTATATATATGGACATA TATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SOGA1_chr20_36772447_36868538	36858315	CACACACA others(71): Show CACACACACACACACACACACACACACACACACACACTGGCTGCACTTCA CTCACATCTAGAATCACCAAGGAGGGAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01981.hp1 HG02895.hp2 others(4): Show HG01934.hp2 HG01981.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1 NA18940.hp2 NA19089.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0019 a0001c0002t0015 others(2): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0015 a0003c0005t0007 a0004c0006t0002	a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0019g0040 others(4): Show a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0019g0040 a0001c0002t0015g0038 a0001c0002t0015g0039 a0003c0005t0007g0256 a0004c0006t0002g0258	7	282	0.0248	-78	c.687 others(95): Show c.687+4265_687+4342delTTTCCCTCCTTGGTGATTCTAGATGTGA GTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36858393	AACACACA others(71): Show AACACACACACACACACACACACACACACTGGCTGCACTTCACTCACATC TAGAATCACCAAGGAGGGAAAACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02698.hp1 HG02818.hp2 others(6): Show HG02257.hp2 HG02698.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03516.hp2 HG04115.hp1 NA18951.hp2 NA18953.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0013 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0002t0004 a0003c0005t0025	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 others(6): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0013g0246 a0001c0001t0017g0241 a0001c0001t0017g0243 a0001c0001t0023g0242 a0001c0002t0004g0252 a0003c0005t0025g0240	9	282	0.0319	-78	c.687 others(95): Show c.687+4187_687+4264delGTGTGTGTTTTCCCTCCTTGGTGATTCT AGATGTGAGTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SORCS2_chr4_7187538_7747827	7482674	TGCAGTTC others(71): Show TGCAGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCTGTTCAGA CCTGTATCCCCGCTGCGGACACCCCTGAC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0031 a0018c0025t0031	a0018c0025t0031g0025 a0018c0025t0031g0025	1	168	0.0060	-78	c.549 others(97): Show c.549-48853_549-48776delAGTTCAGACCTGTATCCCCACTGCGG ACACCCCTGACGCTGTTCAGACCTGTATCCCCGCTGCGGACACCCCTGAC GC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23837257	TTATATAA others(71): Show TTATATAATATATAATATGTATTTATATTTATATTTATATAATATATAAG ATATATTTATATTTATATAATATATAAGA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04184.hp1 HG01168.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0026 a0001c0001t0012 a0001c0001t0026	a0001c0001t0012g0116 a0001c0001t0026g0127 a0001c0001t0012g0116 a0001c0001t0026g0127	2	212	0.0094	-78	c.481 others(95): Show c.481+8648_481+8725delTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATAAATACATATTATATATTATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPATC1L_chr21_46156160_46189459	46170338	GCATCCTC others(71): Show GCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGT GGTCCAGGAGGAGCCTCCTGCTCTGTGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG01884.hp2 others(19): Show HG01167.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA19043.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0017 a0002c0002 a0010c0017	a0002c0002t0003 a0002c0002t0026 a0002c0002t0027 others(1): Show a0002c0002t0003 a0002c0002t0026 a0002c0002t0027 a0010c0017t0009	a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0042 others(15): Show a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0026g0043 a0002c0002t0027g0045 a0010c0017t0009g0039	22	251	0.0877	-78	c.194 others(95): Show c.194-1758_194-1681delTTCACAGAGCAGGAGGCTCCTCCTGGAC CACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar

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