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
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATGTCATA others(42): Show ATGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0121 a0001c0001t0009g0121	1	202	0.0050	49	c.-25 others(60): Show c.-2578_-2577insTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RWDD2B_chr21_28999384_29024349	29011606	A A	ACCCAGCC others(42): Show ACCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03490.hp2 HG03492.hp2 others(1): Show HG02602.hp1 HG03490.hp2 HG03492.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0026g0057 a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0026g0057	4	438	0.0091	49	c.68- others(64): Show c.68-2986_68-2985insCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011606	A A	ACCCGGCC others(42): Show ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(55): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp1 HG02148.hp1 HG02293.hp2 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG03017.hp2 HG03491.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18951.hp2 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18970.hp1 NA18977.hp2 NA18978.hp2 NA18986.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19006.hp2 NA19058.hp2 NA19060.hp2 NA19079.hp1 NA19083.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(32): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0074 a0001c0001t0006g0077 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0006g0090 a0001c0001t0014g0081 a0001c0001t0024g0082 a0001c0001t0025g0084	58	438	0.1324	49	c.68- others(64): Show c.68-3034_68-2986dupCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011655	G G	GCCCGGCC others(42): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	438	0.0023	49	c.68- others(64): Show c.68-3035_68-3034insTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
S100A2_chr1_153556108_153570844	153556420	T T	TGGCTAAG others(42): Show TGGCTAAGTAGAGGGAGGAAGGTAGTGAGATATGATGACCCAATATGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	370	0.0027	49	c.50 others(60): Show c.5018_*5019insTGACATATTGGGTCATCATATCTCACTACCTTCC TCCCTCTACTTAGCC	S100A2	ENSG00000196754.13	transcript	ENST00000368708.9	protein_coding		4687		chr1	TogoVar
SACS_chr13_23323830_23438702	23428419	A A	ATTACTCC others(42): Show ATTACTCCCCCCCCCCCCCCACCCCCCGCCCCCCTTCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0126 a0001c0004t0002g0126	1	378	0.0027	49	c.-50 others(68): Show c.-502+5195_-502+5196insGGGGGGGGGGGGGGAAGGGGGGCGGG GGGTGGGGGGGGGGGGGGAGTAA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	1/9			chr13	TogoVar
SAMD11_chr1_918923_949574	939436	C C	CCCCCTCA others(42): Show CCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0003 a0007c0023t0003	a0007c0023t0003g0208 a0007c0023t0003g0208	1	434	0.0023	49	c.119 others(64): Show c.1195+48_1195+96dupGGTGAGGACCCACCCTGGCATGATCTCCCC TCATCACCTCCCCAGCCAC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668470	T T	TCCCCTCA others(42): Show TCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0187 a0001c0016t0003g0187	1	262	0.0038	49	c.249 others(68): Show c.2496-1601_2496-1600insGAGGGAGGGCGAGGGGAGAGGGAGGG TGAGGGAGAGAGAGGGTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668998	C C	CACCCTCC others(42): Show CACCCTCCCTCTCCCCTTACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0011 a0011	a0011c0077 a0011c0077	a0011c0077t0002 a0011c0077t0002	a0011c0077t0002g0057 a0011c0077t0002g0057	1	262	0.0038	49	c.249 others(68): Show c.2495+1585_2495+1586insAAGGGAGAGGGAAGGAGAGAGAGAGG GAGGGTAAGGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669042	T T	TCCCTCAC others(42): Show TCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0002 a0002c0059t0002	a0002c0059t0002g0030 a0002c0059t0002g0030	1	262	0.0038	49	c.249 others(68): Show c.2495+1541_2495+1542insGAGAGGGAGGGTGAGGGAGATGGAGG GTGAGGGAGAGGGAAGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669160	C C	CATCCTCC others(42): Show CATCCTCCCTCTCCCTCACCCTCCCTCTCCCTCTCCTTCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0199 a0003c0002t0001g0199	1	262	0.0038	49	c.249 others(68): Show c.2495+1423_2495+1424insAAGGGGAGAGGGAAGGAGAGGGAGAG GGAGGGTGAGGGAGAGGGAGGAT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148387620	C C	CTTCCTTC others(42): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0252 a0001c0001t0032g0252	1	322	0.0031	49	c.157 others(66): Show c.157-2512_157-2511insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBNO2_chr19_1102638_1179268	1165805	C C	CCCAGACC others(42): Show CCCAGACCCCCAAACCCCAGATCCCAGACCCCAGACCCCAGACCCCAGAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0015 a0001c0033t0001g0015	1	203	0.0049	49	c.-12 others(68): Show c.-127+8366_-127+8367insATCTGGGGTCTGGGGTCTGGGGTCTG GGATCTGGGGTTTGGGGGTCTGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0011 a0003c0013t0011	a0003c0013t0011g0300 a0003c0013t0011g0300	1	414	0.0024	49	c.678 others(64): Show c.678-150_678-149insATATATATATATATATATATATATATATAT ATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAMP1_chr5_78355617_78485739	78430146	T T	TTATAAAT others(42): Show TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0168 a0002c0003t0007g0168	1	332	0.0030	49	c.632 others(66): Show c.632+8189_632+8190insAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATTTAT others(42): Show TTATTTATAAATACTGTATTTATAAATACAGTATTTATTTATAAATACAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02559.hp1 others(5): Show HG01243.hp1 HG02055.hp2 HG02559.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp2 HG03471.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0162 a0002c0003t0007g0163 a0002c0003t0007g0164 others(5): Show a0002c0003t0007g0162 a0002c0003t0007g0163 a0002c0003t0007g0164 a0002c0003t0007g0165 a0002c0003t0007g0166 a0002c0003t0007g0167 a0002c0003t0007g0169 a0002c0003t0007g0170	8	332	0.0241	49	c.632 others(66): Show c.632+8275_632+8276insTGTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATAAATAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460754	T T	TTCCTTCC others(42): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	332	0.0030	49	c.852 others(66): Show c.852+1429_852+1430insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460758	T T	TTCCTTCC others(42): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02970.hp2 HG02572.hp2 HG02630.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0143 a0001c0001t0005g0152 a0001c0001t0017g0154 a0001c0001t0005g0143 a0001c0001t0005g0152 a0001c0001t0017g0154	3	332	0.0090	49	c.852 others(66): Show c.852+1433_852+1434insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460762	T T	TTCCTTCC others(42): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03195.hp1 HG02258.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0005g0144 a0001c0001t0005g0147	2	332	0.0060	49	c.852 others(66): Show c.852+1437_852+1438insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(42): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	370	0.0027	49	c.-47 others(60): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74991133	T T	TTTCTTTC others(42): Show TTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	370	0.0027	49	c.-45 others(60): Show c.-4589_-4588insTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4429		chr15	TogoVar
SCML4_chr6_107697154_107829313	107803392	T T	TCGCCCGG others(42): Show TCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0006 a0003c0013t0006	a0003c0013t0006g0037 a0003c0013t0006g0037	1	250	0.0040	49	c.-60 others(68): Show c.-60+20685_-60+20733dupGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN7A_chr2_166398573_166499249	166414897	T T	TTATATAG others(42): Show TTATATAGGATAATATATAATATATATTATATAGGATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02074.hp2 HG02257.hp2 others(9): Show HG00323.hp1 HG02074.hp2 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02818.hp2 NA18522.hp1 NA18906.hp1 NA18985.hp2 NA19068.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0009t0001	a0001c0001t0001g0315 a0001c0001t0003g0043 a0001c0001t0003g0346 others(9): Show a0001c0001t0001g0315 a0001c0001t0003g0043 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0008g0373 a0001c0001t0008g0374 a0001c0001t0008g0375 a0001c0001t0008g0376 a0001c0009t0001g0057	12	394	0.0305	49	c.341 others(68): Show c.3415-1777_3415-1776insTATATTATATATTATCCTATATAATA TATATTATATATTATCCTATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1284189	G G	GGTGAGGG others(42): Show GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0130 a0001c0012t0001g0130	1	290	0.0035	49	c.464 others(64): Show c.464+108_464+109insGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGAGGGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYGR1_chr2_227382683_227392949	227389894	T T	TTTTCTTT others(42): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	454	0.0022	49	c.-19 others(60): Show c.-1946_-1945insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1946		chr2	TogoVar
SDCCAG8_chr1_243251041_243505091	243339104	G G	GGTGGGCG others(42): Show GGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	189	0.0053	49	c.122 others(68): Show c.1222-1895_1222-1894insCCTCAGAAAGTGGGCGGCAGGAGGGA GCAGACAGCTAGTGGGCAGAGGA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(42): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	398	0.0025	49	c.-19 others(60): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHA_chr5_213320_262082	229964	A A	AATATTAT others(42): Show AATATTATACAGCATGGTGGCTAGAGTTAACATTATACAGCATGGTGGCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	266	0.0038	49	c.771 others(64): Show c.771-910_771-862dupTATTATACAGCATGGTGGCTAGAGTTAACA TTATACAGCATGGTGGCTA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDK1_chr7_3296252_4274000	4248913	G G	GCACACAT others(42): Show GCACACATACACATATGTACATACATGCACAACACATACATACCTAAATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01243.hp2 others(18): Show HG01167.hp1 HG01243.hp1 HG01243.hp2 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03540.hp1 NA18906.hp1 NA20300.hp2	a0001 a0002 a0009 others(7): Show a0001 a0002 a0009 a0012 a0015 a0016 a0022 a0026 a0031 a0034	a0001c0008 a0001c0014 a0001c0017 others(15): Show a0001c0008 a0001c0014 a0001c0017 a0001c0061 a0001c0062 a0001c0073 a0001c0092 a0001c0093 a0002c0013 a0002c0091 a0009c0019 a0012c0015 a0015c0075 a0016c0046 a0022c0064 a0026c0023 a0031c0085 a0034c0076	a0001c0008t0007 a0001c0014t0018 a0001c0017t0011 others(15): Show a0001c0008t0007 a0001c0014t0018 a0001c0017t0011 a0001c0061t0041 a0001c0062t0031 a0001c0073t0065 a0001c0092t0010 a0001c0093t0048 a0002c0013t0064 a0002c0091t0010 a0009c0019t0074 a0012c0015t0017 a0015c0075t0042 a0016c0046t0015 a0022c0064t0007 a0026c0023t0030 a0031c0085t0045 a0034c0076t0008	a0001c0008t0007g0067 a0001c0014t0018g0060 a0001c0014t0018g0062 others(18): Show a0001c0008t0007g0067 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0061t0041g0080 a0001c0062t0031g0100 a0001c0073t0065g0027 a0001c0092t0010g0055 a0001c0093t0048g0057 a0002c0013t0064g0026 a0002c0091t0010g0047 a0009c0019t0074g0009 a0012c0015t0017g0059 a0012c0015t0017g0066 a0015c0075t0042g0081 a0016c0046t0015g0046 a0022c0064t0007g0106 a0026c0023t0030g0113 a0031c0085t0045g0011 a0034c0076t0008g0016	21	116	0.1810	49	c.638 others(68): Show c.6381+3165_6381+3213dupACACATATGTACATACATGCACAACA CATACATACCTAAATACACACAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0019 a0019	a0019c0076 a0019c0076	a0019c0076t0034 a0019c0076t0034	a0019c0076t0034g0020 a0019c0076t0034g0020	1	204	0.0049	49	c.559 others(68): Show c.5594-2538_5594-2537insAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(42): Show ATATATATATATATATATGTATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0027 a0027	a0027c0091 a0027c0091	a0027c0091t0008 a0027c0091t0008	a0027c0091t0008g0182 a0027c0091t0008g0182	1	204	0.0049	49	c.559 others(68): Show c.5594-2538_5594-2537insAAAAAAATATATATATATATATATAT ATATACATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(42): Show ATATATATATATATATATGTATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0018 a0001c0010t0018	a0001c0010t0018g0109 a0001c0010t0018g0109	1	204	0.0049	49	c.559 others(68): Show c.5594-2538_5594-2537insAAAAAAAAAAATATATATATATATAT ATATACATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SEH1L_chr18_12943011_12992531	12979687	T T	TGGGCGGG others(42): Show TGGGCGGGGGGCTGACCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01070.hp2 others(61): Show HG00099.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01255.hp1 HG01516.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18941.hp1 NA18944.hp1 NA18956.hp2 NA18966.hp2 NA18982.hp2 NA18983.hp1 NA18995.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19064.hp2 NA19065.hp2 NA19084.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 others(60): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0199 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0308 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0002g0376 a0001c0001t0003g0013 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0004t0001g0346 a0001c0004t0001g0351	64	388	0.1650	49	c.761 others(64): Show c.761+812_761+813insTCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12979691	C C	CGGGGGGC others(42): Show CGGGGGGCTGACCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02132.hp1 NA18981.hp2 others(1): Show HG02027.hp2 HG02132.hp1 NA18981.hp2 NA19012.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0347 a0001c0004t0001g0348 a0001c0004t0001g0349 others(1): Show a0001c0004t0001g0347 a0001c0004t0001g0348 a0001c0004t0001g0349 a0001c0004t0001g0350	4	388	0.0103	49	c.761 others(64): Show c.761+812_761+813insTCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12979692	G G	GGGGGGCT others(42): Show GGGGGGCTGACCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp2 HG02109.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0256 a0001c0001t0001g0011 a0001c0001t0001g0256	2	388	0.0052	49	c.761 others(64): Show c.761+812_761+813insTCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCCGGGGGCTGACCC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980708	T T	TTCCCTCA others(42): Show TTCCCTCACGGACGGGGCGGCTGGCCGGGCGGGGAGCTGACCTCCCCACC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18944.hp1 NA18966.hp2 others(2): Show HG02132.hp2 NA18944.hp1 NA18966.hp2 NA18983.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0251 others(2): Show a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0285 a0001c0001t0001g0286	5	388	0.0129	49	c.762 others(66): Show c.762-1804_762-1803insACGGACGGGGCGGCTGGCCGGGCGGGGA GCTGACCTCCCCACCTCCCTC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980708	T T	TTCCCTCC others(42): Show TTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGAGCTGACCTCCCCACC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	388	0.0026	49	c.762 others(66): Show c.762-1803_762-1802insTGGACGGGGCGGCTGGCCGGGCGGGGAG CTGACCTCCCCACCTCCCTCC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980725	C C	CGGCTGGC others(42): Show CGGCTGGCCGGGCGGGGAGCTGACCTCCCCACCTCCCTCCCGGACGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(298): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0009 a0003c0005 a0004c0006 a0005c0010 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0007t0001 a0002c0002t0001 a0002c0009t0001 a0003c0005t0001 a0004c0006t0001 a0005c0010t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(293): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0355 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0382 a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0376 a0001c0001t0003g0013 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0004g0312 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0006g0335 a0001c0001t0006g0338 a0001c0003t0001g0360 a0001c0003t0002g0361 a0001c0003t0002g0362 a0001c0003t0002g0363 a0001c0003t0002g0364 a0001c0003t0002g0365 a0001c0003t0002g0366 a0001c0003t0002g0367 a0001c0004t0001g0346 a0001c0004t0001g0347 a0001c0004t0001g0348 a0001c0004t0001g0349 a0001c0004t0001g0350 a0001c0004t0001g0351 a0001c0007t0001g0233 a0001c0007t0001g0236 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0110 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0205 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0232 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0356 a0002c0009t0001g0178 a0003c0005t0001g0352 a0003c0005t0001g0353 a0004c0006t0001g0144 a0004c0006t0001g0354 a0005c0010t0001g0189 a0006c0008t0001g0375	301	388	0.7758	49	c.762 others(66): Show c.762-1781_762-1780insGGGGAGCTGACCTCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980725	C C	CGGCTGGC others(42): Show CGGCTGGCCGGGCGGGGAGCTGACCTCCCCACCTCCCTCCCGGATGGGGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	388	0.0026	49	c.762 others(66): Show c.762-1781_762-1780insGGGGAGCTGACCTCCCCACCTCCCTCCC GGATGGGGTGGCTGGCCGGGC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SELENOI_chr2_26341143_26400885	26370797	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0006 a0001c0006t0006 a0001c0005t0006 a0001c0006t0006	a0001c0005t0006g0027 a0001c0006t0006g0028 a0001c0005t0006g0027 a0001c0006t0006g0028	2	334	0.0060	49	c.311 others(66): Show c.311-2546_311-2498dupGGGCGGGGGGCTGACACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEMA3A_chr7_83950777_84199789	84091079	T T	TGAAAGAA others(42): Show TGAAAGAAGAGAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	276	0.0036	49	c.453 others(68): Show c.453+19390_453+19391insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTCTTCTCTTCTTTC	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9353096	A A	AAGGAAAG others(42): Show AAGGAAAGGAAAGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGGAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0086 a0001c0005t0007g0086	1	134	0.0075	49	c.125 others(68): Show c.125-15285_125-15284insCTTTCCCTTTCCTTTCCTTTCCTTTC CTTTCCCTTTCCTTTCCTTTCCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SENP1_chr12_48037897_48111079	48104221	A A	AAAAAAAT others(42): Show AAAAAAATATATATATAGAGAGAGAGAGAGAGAGACGGGGGGGGGGGAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0313 a0001c0001t0004g0313	1	394	0.0025	49	c.-45 others(66): Show c.-45+1806_-45+1807insCTTCCCCCCCCCCCGTCTCTCTCTCTCT CTCTCTATATATATATTTTTT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	1/17			chr12	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0076 a0001c0001t0030g0076	1	390	0.0026	49	c.720 others(66): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169686	A A	ATATATAT others(42): Show ATATATATTATATAATATATTGTATATTATATATTATATATATTGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	366	0.0027	49	c.-15 others(60): Show c.-1549_-1548insATATACAATATATATAATATATAATATACAATAT ATTATATAATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1425		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TATAATAT others(42): Show TATAATATATAATATTGTATATTATATATTGTATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	366	0.0027	49	c.-16 others(60): Show c.-1608_-1607insCAATATATTATATAATATACAATATATAATATAC AATATTATATATTAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 NA18977.hp2 HG01943.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0050 a0001c0001t0016 a0001c0001t0050	a0001c0001t0016g0018 a0001c0001t0050g0236 a0001c0001t0016g0018 a0001c0001t0050g0236	2	368	0.0054	49	c.92 others(60): Show c.9279_*9280insATATATATATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERPINB7_chr18_63770418_63810370	63783216	G G	GAGAAAGA others(42): Show GAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0384 a0001c0004t0006g0384	1	432	0.0023	49	c.168 others(64): Show c.168+679_168+680insAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63786099	G G	GTATATAT others(42): Show GTATATATGTATATATGTATATATATACGTATATACATATAATATAAGTA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19058.hp1 NA19081.hp2 others(1): Show NA19054.hp2 NA19058.hp1 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0235 a0001c0001t0003g0236 others(1): Show a0001c0001t0003g0217 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0238	4	432	0.0093	49	c.168 others(66): Show c.168+3566_168+3567insGTATATATGTATATATATACGTATATAC ATATAATATAAGTATATATAT	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SESN3_chr11_95160513_95236202	95167475	C C	CCCCATAT others(42): Show CCCCATATATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0074 a0001c0002t0041g0074	1	392	0.0026	49	c.57 others(60): Show c.5779_*5780insATATATATATATATATATATATATATATATATAT ATATATATATATGGG	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	10/10	5779		chr11	TogoVar

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