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
SNTG2_chr2_945849_1372613	1345436	CTGGGCAC others(107): Show CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCA CTTTTCCCCCTGTTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03486.hp2 HG03927.hp2 HG01109.hp2 HG03486.hp2 HG03927.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0005 a0003c0007 a0002c0003 a0002c0005 a0003c0007	a0002c0003t0001 a0002c0005t0001 a0003c0007t0002 a0002c0003t0001 a0002c0005t0001 a0003c0007t0002	a0002c0003t0001g0185 a0002c0005t0001g0100 a0003c0007t0002g0077 a0002c0003t0001g0185 a0002c0005t0001g0100 a0003c0007t0002g0077	3	188	0.0160	-114	c.148 others(21): Show c.1489-21798_1489-21685del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345876	CTTTCCCC others(107): Show CTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTGGCACT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01256.hp1 HG01257.hp2 others(12): Show HG01099.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03710.hp1 NA18942.hp2 NA18968.hp2 NA18986.hp1 NA18990.hp2 NA19000.hp2 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0008 a0009 a0021	a0001c0001 a0002c0003 a0003c0007 others(6): Show a0001c0001 a0002c0003 a0003c0007 a0003c0008 a0006c0009 a0008c0011 a0008c0031 a0009c0012 a0021c0027	a0001c0001t0001 a0002c0003t0001 a0003c0007t0001 others(6): Show a0001c0001t0001 a0002c0003t0001 a0003c0007t0001 a0003c0008t0001 a0006c0009t0001 a0008c0011t0001 a0008c0031t0001 a0009c0012t0001 a0021c0027t0001	a0001c0001t0001g0017 a0001c0001t0001g0027 a0002c0003t0001g0094 others(12): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0002c0003t0001g0094 a0003c0007t0001g0019 a0003c0007t0001g0080 a0003c0008t0001g0044 a0003c0008t0001g0059 a0006c0009t0001g0093 a0008c0011t0001g0004 a0008c0011t0001g0135 a0008c0011t0001g0182 a0008c0011t0001g0188 a0008c0031t0001g0117 a0009c0012t0001g0091 a0021c0027t0001g0136	15	114	0.1316	-114	c.148 others(21): Show c.1489-21421_1489-21308del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345922	AGCAGCTT others(107): Show AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0133 a0002c0005t0001g0133	1	100	0.0100	-114	c.148 others(21): Show c.1489-21206_1489-21093del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7454163	TGTGTTGG others(107): Show TGTGTTGGGGTCAGGCGCTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGTC AGGTGCTGTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCAGGCTCTGTG TTGGGGTCAGGCTCC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02293.hp1 HG01952.hp2 HG02293.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0012 a0002c0004t0007 a0001c0001t0012 a0002c0004t0007	a0001c0001t0012g0047 a0002c0004t0007g0136 a0001c0001t0012g0047 a0002c0004t0007g0136	2	168	0.0119	-114	c.548 others(19): Show c.548+57837_548+57950del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPECC1L_chr22_24265831_24422738	24270239	ATATACAT others(107): Show ATATACATATATATATGTATATATATACACATATATATACATATATATAT ACGTATATATATATGTATATATATACATATATATATACGTATATATATAT ACGTATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	324	0.0031	-114	c.-88 others(9): Show c.-885_-772del	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		591		chr22	TogoVar
SPPL2B_chr19_2323684_2360095	2345520	TGTGCCTG others(107): Show TGTGCCTGCATCCCCCTCTTTCTCATTCTCCCCGGGCCTGTGCCTGCAAC CCCCTCTTTCTCATTCTTCCTGGGCCTGTGCCTCTGTCCCCATCTTCCTC ATTCTTCCTGGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01981.hp2 NA18954.hp1 others(10): Show HG00544.hp2 HG01981.hp2 NA18954.hp1 NA18968.hp1 NA18973.hp1 NA18989.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0217 others(8): Show a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0217 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0287	13	412	0.0316	-114	c.135 others(17): Show c.1354+274_1354+387del	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
STARD13_chr13_33098137_33290755	33177810	AAGGAAGG others(107): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp2 HG02615.hp2 others(7): Show HG01192.hp2 HG02280.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG04184.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0012 a0001c0022	a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 others(7): Show a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 a0001c0002t0012 a0001c0004t0002 a0001c0004t0004 a0001c0005t0003 a0001c0011t0001 a0001c0012t0001 a0001c0022t0001	a0001c0001t0004g0171 a0001c0001t0011g0297 a0001c0002t0001g0073 others(7): Show a0001c0001t0004g0171 a0001c0001t0011g0297 a0001c0002t0001g0073 a0001c0002t0012g0005 a0001c0004t0002g0186 a0001c0004t0004g0279 a0001c0005t0003g0038 a0001c0011t0001g0195 a0001c0012t0001g0249 a0001c0022t0001g0164	10	285	0.0351	-114	c.170 others(19): Show c.170-10302_170-10189del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STARD13_chr13_33098137_33290755	33177814	AAGGAAGG others(107): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGA AGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	297	0.0034	-114	c.170 others(19): Show c.170-10306_170-10193del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STK38L_chr12_27239286_27330959	27240946	TTATATAT others(107): Show TTATATATATTACATATATGACTATGTATAGTTATATATATTACATATAT GACTGTATAGTTATATATATTACATATATGACTATGTATAGTTATATATA TTACATATATGACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0013 a0001c0003t0002g0013	1	298	0.0034	-114	c.-33 others(11): Show c.-3397_-3284del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3339		chr12	TogoVar
STON1_chr2_48525154_48603513	48564488	TCTTCTTC others(107): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTC CTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG06807.hp1 others(1): Show HG01106.hp2 HG01243.hp1 HG06807.hp1 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0190 others(1): Show a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0190 a0002c0002t0002g0215	4	374	0.0107	-114	c.-47 others(19): Show c.-47-16093_-47-15980del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564494	TCTTCTTC others(107): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTC CTCCTCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01081.hp2 others(5): Show HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01256.hp1 HG02922.hp2 HG03225.hp1 NA19066.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0021	a0002c0002t0001g0089 a0002c0002t0001g0280 a0002c0002t0001g0281 others(5): Show a0002c0002t0001g0089 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0002g0218 a0002c0002t0009g0055 a0002c0002t0021g0224	8	364	0.0220	-114	c.-47 others(19): Show c.-47-16087_-47-15974del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564500	TCTTCTTC others(107): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTC CTCCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	366	0.0027	-114	c.-47 others(19): Show c.-47-16081_-47-15968del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
SYNPR_chr3_63273308_63621924	63313734	TATATATA others(107): Show TATATATATATCCATATATATATCCATATATATATCCATATATATATATC CATATATATATATCCATATATATATCCATATATATATCCATATATATATC CATATATATATATCC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	222	0.0045	-114	c.84+ others(17): Show c.84+35015_84+35128del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313912	CATATATA others(107): Show CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATCCATATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03942.hp2 NA18954.hp2 HG01074.hp2 HG03942.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0162 a0001c0001t0002g0152 a0001c0005t0001g0154 a0001c0001t0001g0162 a0001c0001t0002g0152 a0001c0005t0001g0154	3	218	0.0138	-114	c.84+ others(17): Show c.84+35179_84+35292del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAF13_chr1_109059140_109081003	109071957	AATATATA others(107): Show AATATATATATATATATATACACACATATATATATATATATATATATATA TATATATACACACACATATATATATATATATATATATACACACACATATA TATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18966.hp2 HG01361.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0002g0068 a0001c0001t0001g0007 a0001c0001t0002g0068	2	191	0.0105	-114	c.106 others(17): Show c.106+2916_106+3029del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TAF13_chr1_109059140_109081003	109071969	TATATATA others(107): Show TATATATACACACATATATATATATATATATATATATATATATATACACA CACATATATATATATATATATATATACACACACATATATATATATATATA TATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	398	0.0025	-114	c.106 others(17): Show c.106+2904_106+3017del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TARS3_chr15_101648596_101729473	101655198	CGGGGAGC others(107): Show CGGGGAGCTCTTACAGGCTCACACTGACCCCACCTGGCACTAGGGTGCAA ATGAGAGGGGGGAGCTCTTACAGGCTCACAGTGACTCCACCTGGCACTAG GGCGCAGATGAGAGG	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0195 a0002c0004t0004g0195	1	274	0.0036	-114	c.226 others(17): Show c.2261-582_2261-469del	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	18/18			chr15	TogoVar
TARS3_chr15_101648596_101729473	101655585	CGCAAATG others(107): Show CGCAAATGAGAGCGGGGAGCTCTTACAGGCTCACAGTGACTCCACCTGGC ACTAGGGCGCAAATGAGAGCGGGGAGCTCTTACAGACTCACAGTGACTCC ACCTGGCACTAGGGT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0124 a0002c0004t0004g0124	1	273	0.0037	-114	c.226 others(17): Show c.2261-969_2261-856del	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	18/18			chr15	TogoVar
TERT_chr5_1248167_1300068	1275714	AAAAACCA others(107): Show AAAAACCAATCCCACAGATCCCCACCTATCCCACACATGAAAACCAATCC CACAGATCTCCACCTACCCCACACATGAAAACCAACTCCACAGATCCCCA CCTACCCCACACATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(70): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01257.hp2 HG01261.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp2 HG02630.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18964.hp2 NA18979.hp1 NA18986.hp1 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19055.hp1 NA19055.hp2 NA19074.hp2 NA19076.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0004c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0002 a0001c0011t0001 a0001c0013t0001 a0004c0021t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 others(69): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0261 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0340 a0001c0001t0001g0347 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0379 a0001c0001t0002g0129 a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0003t0001g0294 a0001c0003t0001g0315 a0001c0004t0001g0043 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0005t0001g0003 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0144 a0001c0007t0001g0377 a0001c0007t0001g0378 a0001c0008t0002g0188 a0001c0008t0002g0189 a0001c0011t0001g0098 a0001c0013t0001g0110 a0004c0021t0001g0184	73	390	0.1872	-114	c.228 others(19): Show c.2286+2813_2286+2926del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TIGIT_chr3_114289028_114315288	114303498	TATATATG others(107): Show TATATATGTATATATATATACACATATATATGTATATATATACACATATA TATGTATATATATATACATATATATGTATATATATATATACATATATATG TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19077.hp1 NA19087.hp2 NA18940.hp2 NA19077.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0074 a0001c0001t0002g0046 a0001c0001t0002g0074	3	422	0.0071	-114	c.498 others(17): Show c.498+3802_498+3915del	TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
TM2D3_chr15_101636848_101657381	101655198	CGGGGAGC others(107): Show CGGGGAGCTCTTACAGGCTCACACTGACCCCACCTGGCACTAGGGTGCAA ATGAGAGGGGGGAGCTCTTACAGGCTCACAGTGACTCCACCTGGCACTAG GGCGCAGATGAGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	419	0.0024	-114	c.-29 others(11): Show c.-2951_-2838del	TM2D3	ENSG00000184277.13	transcript	ENST00000333202.8	protein_coding		2818		chr15	TogoVar
TM2D3_chr15_101636848_101657381	101655585	CGCAAATG others(107): Show CGCAAATGAGAGCGGGGAGCTCTTACAGGCTCACAGTGACTCCACCTGGC ACTAGGGCGCAAATGAGAGCGGGGAGCTCTTACAGACTCACAGTGACTCC ACCTGGCACTAGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	417	0.0024	-114	c.-33 others(11): Show c.-3338_-3225del	TM2D3	ENSG00000184277.13	transcript	ENST00000333202.8	protein_coding		3205		chr15	TogoVar
TMC2_chr20_2531573_2648580	2534329	CAAGAGCA others(107): Show CAAGAGCAGGGTAAAGGCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAAAAAAA AAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00735.hp2 others(38): Show HG00099.hp1 HG00621.hp1 HG00735.hp2 HG01109.hp2 HG01255.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG04228.hp2 HG06807.hp2 NA18941.hp1 NA18959.hp2 NA18983.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19083.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0013 a0014 a0025	a0001c0001 a0001c0003 a0001c0005 others(21): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0013 a0001c0019 a0002c0002 a0002c0017 a0002c0024 a0002c0050 a0003c0007 a0003c0011 a0003c0014 a0003c0015 a0003c0022 a0003c0054 a0004c0006 a0005c0009 a0007c0028 a0007c0030 a0008c0016 a0013c0047 a0014c0045 a0025c0044	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(27): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0003t0003 a0001c0003t0005 a0001c0005t0002 a0001c0010t0002 a0001c0010t0007 a0001c0013t0001 a0001c0019t0002 a0002c0002t0001 a0002c0017t0003 a0002c0024t0002 a0002c0050t0007 a0003c0007t0012 a0003c0011t0003 a0003c0014t0002 a0003c0015t0002 a0003c0015t0007 a0003c0022t0004 a0003c0054t0016 a0004c0006t0001 a0005c0009t0003 a0007c0028t0004 a0007c0030t0010 a0008c0016t0002 a0013c0047t0014 a0014c0045t0004 a0025c0044t0002	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 others(38): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0004g0032 a0001c0001t0009g0170 a0001c0001t0017g0278 a0001c0003t0003g0078 a0001c0003t0003g0083 a0001c0003t0003g0095 a0001c0003t0005g0021 a0001c0005t0002g0012 a0001c0005t0002g0059 a0001c0010t0002g0171 a0001c0010t0007g0030 a0001c0010t0007g0036 a0001c0013t0001g0010 a0001c0019t0002g0011 a0002c0002t0001g0277 a0002c0017t0003g0091 a0002c0024t0002g0033 a0002c0050t0007g0034 a0003c0007t0012g0025 a0003c0011t0003g0076 a0003c0014t0002g0279 a0003c0015t0002g0166 a0003c0015t0007g0157 a0003c0015t0007g0163 a0003c0022t0004g0155 a0003c0054t0016g0263 a0004c0006t0001g0040 a0004c0006t0001g0075 a0005c0009t0003g0077 a0005c0009t0003g0079 a0007c0028t0004g0162 a0007c0030t0010g0156 a0008c0016t0002g0164 a0008c0016t0002g0165 a0008c0016t0002g0167 a0013c0047t0014g0027 a0014c0045t0004g0069 a0025c0044t0002g0041	41	342	0.1199	-114	c.-22 others(11): Show c.-2292_-2179del	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding		2243		chr20	TogoVar
TMCO3_chr13_113486021_113555229	113541916	ATCGCTGA others(107): Show ATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATAC GCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGG ATGATACGCACACGG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04204.hp2 HG02015.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0138 a0001c0001t0001g0145	2	249	0.0080	-114	c.169 others(19): Show c.1690+2793_1690+2906del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132C_chr12_128262170_128712911	128665733	GCACACAC others(107): Show GCACACACATACACCCAGGCACATGTACTCATAAGCACACAGGCACTCAC ACACACAGGCACACACACATTCACAGGCACACACACATTCACAGGCACTC ACACAAACACAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02145.hp1 others(8): Show HG01243.hp2 HG01884.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG02976.hp2 HG03453.hp2 NA19240.hp2	a0003 a0005 a0008 others(2): Show a0003 a0005 a0008 a0010 a0013	a0003c0009 a0003c0010 a0003c0073 others(7): Show a0003c0009 a0003c0010 a0003c0073 a0005c0048 a0008c0021 a0008c0024 a0008c0053 a0010c0027 a0010c0069 a0013c0063	a0003c0009t0001 a0003c0010t0003 a0003c0073t0009 others(7): Show a0003c0009t0001 a0003c0010t0003 a0003c0073t0009 a0005c0048t0002 a0008c0021t0002 a0008c0024t0002 a0008c0053t0016 a0010c0027t0001 a0010c0069t0001 a0013c0063t0002	a0003c0009t0001g0076 a0003c0010t0003g0070 a0003c0010t0003g0074 others(8): Show a0003c0009t0001g0076 a0003c0010t0003g0070 a0003c0010t0003g0074 a0003c0073t0009g0066 a0005c0048t0002g0105 a0008c0021t0002g0165 a0008c0024t0002g0087 a0008c0053t0016g0083 a0010c0027t0001g0148 a0010c0069t0001g0020 a0013c0063t0002g0075	11	168	0.0655	-114	c.130 others(19): Show c.1306-3675_1306-3562del	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM184B_chr22_38214291_38278010	38229609	AGCTGGAT others(107): Show AGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCCAGGAAG CTAGAGTGGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGCCAGCC CAGGAAGCTAGAGCG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18950.hp1 NA18983.hp2 HG02615.hp2 NA18950.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0006g0084 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0006g0084	3	333	0.0090	-114	c.525 others(16): Show c.525+946_525+1059del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8			chr22	TogoVar
TMEM184B_chr22_38214291_38278010	38229703	CCAGCCCA others(107): Show CCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCTAGACCAC AGGGAGGTCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCT AGACCACAGGGAGGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02055.hp1 NA18941.hp1 others(9): Show HG02040.hp1 HG02055.hp1 NA18941.hp1 NA18941.hp2 NA18971.hp2 NA18979.hp1 NA19009.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0055 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0143 a0001c0001t0001g0173 a0001c0003t0001g0068	12	327	0.0367	-114	c.525 others(15): Show c.525+852_525+965del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8			chr22	TogoVar
TMEM184B_chr22_38214291_38278010	38229817	TCAGCCCA others(107): Show TCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCTAGACCAC AGGGAGGTCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCT AGACCACAGGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01081.hp2 others(14): Show HG00438.hp2 HG00642.hp1 HG01081.hp2 HG01099.hp2 HG01981.hp2 HG02004.hp2 HG02135.hp1 HG02717.hp1 HG02723.hp2 HG03195.hp1 HG03209.hp1 HG03704.hp2 NA18948.hp1 NA18985.hp1 NA19012.hp1 NA19030.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0002c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0204 a0001c0001t0001g0239 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0204 a0001c0001t0001g0239 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0094 a0001c0001t0002g0191 a0001c0001t0002g0208 a0001c0001t0004g0015 a0001c0001t0004g0165 a0001c0001t0004g0266 a0001c0001t0022g0228 a0001c0001t0027g0186 a0001c0001t0028g0088 a0002c0010t0002g0196	17	322	0.0528	-114	c.525 others(15): Show c.525+738_525+851del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8			chr22	TogoVar
TMEM184B_chr22_38214291_38278010	38230072	TTGCCAAG others(107): Show TTGCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCCAGGAAGCTAGAGC GGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGCCAGCCCAGGAAG CTAGAGCGGCTGGAC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	352	0.0028	-114	c.525 others(15): Show c.525+483_525+596del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8			chr22	TogoVar
TMEM255A_chrX_120253650_120316461	120296969	ATATTATA others(107): Show ATATTATATATATTATATATATATTATATATAATATATAATATTATATAT ATTATATATATATAATATATAATATATAATATAATATATATAATATTATA TATATTATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02015.hp1 HG02074.hp1 others(19): Show HG00438.hp2 HG02015.hp1 HG02074.hp1 HG02165.hp1 HG02717.hp1 HG02738.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp2 HG04184.hp1 NA18945.hp1 NA18952.hp1 NA18960.hp1 NA18963.hp1 NA18973.hp2 NA18975.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19070.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0084 a0001c0001t0001g0101 others(19): Show a0001c0001t0001g0063 a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214	22	299	0.0736	-114	c.202 others(17): Show c.202-3032_202-2919del	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMEM255A_chrX_120253650_120316461	120296982	TATATATA others(107): Show TATATATATATTATATATAATATATAATATTATATATATTATATATATAT AATATATAATATATAATATAATATATATAATATTATATATATTATATTAT ATTATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	298	0.0034	-114	c.202 others(17): Show c.202-3045_202-2932del	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMEM87B_chr2_112050269_112124314	112113787	TGTAGCAT others(107): Show TGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG02717.hp1 others(3): Show HG00639.hp1 HG01243.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0257 a0001c0001t0005g0259 others(2): Show a0001c0001t0005g0011 a0001c0001t0005g0257 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261	6	312	0.0192	-114	c.160 others(18): Show c.1608+972_1608+1085del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112113901	GGTAGCAT others(107): Show GGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGAT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	260	0.0038	-114	c.160 others(19): Show c.1608+1048_1608+1161del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114205	TGTAGCAT others(107): Show TGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGAG	T T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0163 a0002c0002t0003g0163	1	308	0.0032	-114	c.160 others(19): Show c.1608+1352_1608+1465del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114395	CGTAGCAT others(107): Show CGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGACGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGAT	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0145 a0002c0002t0003g0145	1	284	0.0035	-114	c.160 others(19): Show c.1608+1466_1609-1576del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18			chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114864	AAAGATTC others(107): Show AAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAA CTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAG ATGTAGCATTACAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02735.hp2 HG03139.hp2 others(3): Show HG01109.hp1 HG02735.hp2 HG03139.hp2 NA18522.hp1 NA19043.hp2 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0036 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0036 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008	a0001c0001t0001g0014 a0001c0001t0036g0028 a0002c0002t0003g0158 others(3): Show a0001c0001t0001g0014 a0001c0001t0036g0028 a0002c0002t0003g0158 a0002c0002t0003g0176 a0002c0002t0004g0033 a0002c0002t0008g0154	6	314	0.0191	-114	c.160 others(19): Show c.1609-1119_1609-1006del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114902	AAAGATTC others(107): Show AAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAA CTCTACAGAAAGATGTAGCATTACAGGAAGATTCATAACTCTACAGAAAG AGGTAGCATTACAGA	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0143 a0002c0002t0003g0143	1	273	0.0037	-114	c.160 others(19): Show c.1609-1119_1609-1006del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112115155	GGTAGCAT others(107): Show GGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGAT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0090 a0001c0001t0007g0090	1	310	0.0032	-114	c.160 others(17): Show c.1609-891_1609-778del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TNR_chr1_175310194_175748595	175426838	ATATATAT others(107): Show ATATATATAAAATATAAATATATATAAAATATATTATATATATAAAATAT AAATATATATAAAATATATTATATATATAAAATATAAATATATATAAAAT ATATTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00741.hp1 others(29): Show HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01175.hp2 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02258.hp1 HG02280.hp2 HG02630.hp2 HG02735.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03669.hp2 NA18747.hp1 NA18747.hp2 NA18953.hp2 NA18964.hp1 NA18983.hp1 NA19007.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0009 a0012 a0014	a0001c0002 a0001c0003 a0001c0005 others(15): Show a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0001c0016 a0001c0042 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0003c0001 a0004c0021 a0004c0023 a0009c0024 a0012c0031 a0014c0037	a0001c0002t0001 a0001c0002t0022 a0001c0002t0024 others(24): Show a0001c0002t0001 a0001c0002t0022 a0001c0002t0024 a0001c0003t0025 a0001c0005t0002 a0001c0005t0054 a0001c0009t0017 a0001c0009t0018 a0001c0009t0031 a0001c0009t0052 a0001c0010t0012 a0001c0013t0023 a0001c0016t0046 a0001c0042t0001 a0002c0004t0003 a0002c0006t0051 a0002c0007t0066 a0002c0008t0019 a0003c0001t0002 a0003c0001t0005 a0003c0001t0032 a0003c0001t0036 a0004c0021t0001 a0004c0023t0068 a0009c0024t0003 a0012c0031t0002 a0014c0037t0011	a0001c0002t0001g0032 a0001c0002t0001g0066 a0001c0002t0001g0117 others(29): Show a0001c0002t0001g0032 a0001c0002t0001g0066 a0001c0002t0001g0117 a0001c0002t0001g0130 a0001c0002t0022g0052 a0001c0002t0024g0037 a0001c0003t0025g0001 a0001c0005t0002g0102 a0001c0005t0054g0008 a0001c0009t0017g0036 a0001c0009t0018g0111 a0001c0009t0031g0076 a0001c0009t0052g0109 a0001c0010t0012g0090 a0001c0013t0023g0097 a0001c0016t0046g0100 a0001c0042t0001g0122 a0002c0004t0003g0016 a0002c0004t0003g0017 a0002c0006t0051g0028 a0002c0007t0066g0125 a0002c0008t0019g0096 a0003c0001t0002g0023 a0003c0001t0002g0051 a0003c0001t0005g0034 a0003c0001t0032g0126 a0003c0001t0036g0106 a0004c0021t0001g0038 a0004c0023t0068g0123 a0009c0024t0003g0018 a0012c0031t0002g0092 a0014c0037t0011g0104	32	130	0.2462	-114	c.-63 others(19): Show c.-63-20175_-63-20062del	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	2/22			chr1	TogoVar
TOP1MT_chr8_143304324_143339880	143336623	AAAGAAAG others(107): Show AAAGAAAGAAGTAAATTATGTCTATTTGCAGGTGGCATAATCTTGTATAT AGAAAATCCCAAAGAATCCACAAAAATTGGCCGAGCACCGTAGCTCATGC CTGTAATCCAAGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	428	0.0023	-114	c.-18 others(11): Show c.-1876_-1763del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		1744		chr8	TogoVar
TRAPPC4_chr11_119013766_119029134	119022447	GTGTGGTG others(107): Show GTGTGGTGGCGGACACCTGTAGTGCCAGCTATTAAGGAAGCTGAGGCGGG AGGATTGCTTAAACCTGGAAGGTCAAGGCAGCAGTGAACCATGCTCGTGC CACTGCATTCCAGCC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	386	0.0026	-114	c.581 others(15): Show c.581+564_581+677del	TRAPPC4	ENSG00000196655.12	transcript	ENST00000533632.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRIM28_chr19_58539064_58555715	58539856	CAGACAGA others(107): Show CAGACAGAGTTCCCCTCCCCACACAGACCCTCTTTCCCTCAGACAGGATT TTCCCCACACAAACCCTACTTTCCTCCTCAGACAGGATTCTCCCCACACA GACTCTGCTTCCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02258.hp1 HG02258.hp2 others(2): Show HG01069.hp1 HG02258.hp1 HG02258.hp2 HG02622.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0040 a0001c0001t0003g0014 a0001c0001t0003g0040	5	398	0.0126	-114	c.-49 others(11): Show c.-4901_-4788del	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4207		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58540690	CATCCTGC others(107): Show CATCCTGCTTCCCTCCTCAGACAGGATTTTCCCCACACAAACCCTACTTT CCTCCTCAGACAGGATTCTCTCCACACAGACCCTGCTTCCCTCAGACAGG ATTCTCCCCACACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02258.hp1 HG02258.hp2 others(2): Show HG01069.hp1 HG02258.hp1 HG02258.hp2 HG02622.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0040 a0001c0001t0003g0014 a0001c0001t0003g0040	5	397	0.0126	-114	c.-40 others(11): Show c.-4067_-3954del	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		3373		chr19	TogoVar
TRIM37_chr17_58993202_59111880	59067737	TGTTGGTC others(107): Show TGTTGGTCAGACTGCTCTGGAACTCCTGACTTCAGGTGATCCGCCCGCCT CGGCCTCCCAAGGTGCTGGGGTTACAGGCATGAGCCACCGCGCCCAGCCC ACAGTAAAATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03490.hp2 HG03492.hp1 HG01346.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255	3	340	0.0088	-114	c.809 others(17): Show c.809+2972_809+3085del	TRIM37	ENSG00000108395.14	transcript	ENST00000262294.12	protein_coding	9/23			chr17	TogoVar
TYMS_chr18_652653_678578	666891	AGATGGTG others(107): Show AGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGAT GGTGATGGAGATGGT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03669.hp1 HG02698.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0247 a0001c0001t0003g0184 a0001c0001t0003g0247	2	430	0.0047	-114	c.455 others(17): Show c.455-2163_455-2050del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666909	TGATGGTG others(107): Show TGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGAT GGTGATGGAGATGGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02015.hp2 HG02040.hp2 others(23): Show HG00544.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02132.hp1 HG02683.hp2 HG03516.hp1 HG03654.hp1 HG03834.hp1 NA18947.hp2 NA18952.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp2 NA19004.hp2 NA19007.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0042 others(10): Show a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0218 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0003g0011 a0001c0001t0003g0242 a0001c0001t0003g0345 a0001c0001t0007g0024 a0001c0001t0007g0195 a0001c0001t0007g0221	26	331	0.0785	-114	c.455 others(17): Show c.455-2127_455-2014del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666957	AGATGGAG others(107): Show AGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGAT GGAGATGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA19240.hp2 NA18965.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0137 a0001c0001t0008g0206 a0001c0001t0001g0137 a0001c0001t0008g0206	2	340	0.0059	-114	c.455 others(17): Show c.455-2097_455-1984del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
VIPR2_chr7_159023175_159149867	159063749	TGGGGGAC others(107): Show TGGGGGACCTGGCGGGGTCTGGGAGTCCAGGTGGGGTCTGGGGGTCCTGG TGGGGTCCGGGGGTCCTGGTGGGGTCCGGGGGTCCTGGTGGGGTCTGGGG GGCCTGGTGGGTTCC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0043 a0001c0009t0043	a0001c0009t0043g0024 a0001c0009t0043g0024	1	334	0.0030	-114	c.358 others(17): Show c.358-5285_358-5172del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159088856	AGCTCCTC others(107): Show AGCTCCTCATCTGGGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02135.hp2 HG02155.hp2 others(3): Show HG00609.hp2 HG02135.hp2 HG02155.hp2 NA18950.hp1 NA18953.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0049	a0001c0001t0001g0315 a0001c0002t0002g0026 a0001c0002t0002g0318 others(3): Show a0001c0001t0001g0315 a0001c0002t0002g0026 a0001c0002t0002g0318 a0001c0002t0007g0044 a0001c0002t0007g0316 a0001c0002t0049g0197	6	33	0.1818	-114	c.357 others(19): Show c.357+14787_357+14900del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
WFIKKN1_chr16_625985_639117	632028	GCCTCTCC others(107): Show GCCTCTCCTCCCACCCTCTCCTCCCATCCACTCCTCCCATCCACTCCTCC CATCCACTTCTTCCATCCTCTTCTCCCACCCCGTCACTGCCTCTCCTTCC ATCCTCTCCTCCCAC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0032 a0001c0005t0001g0032	1	329	0.0030	-114	c.172 others(15): Show c.172-545_172-432del	WFIKKN1	ENSG00000127578.7	transcript	ENST00000319070.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar

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