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
FSHR_chr2_48957157_49159515	49127839	TTCTTCTT others(49): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02135.hp1 HG02965.hp2 others(1): Show HG01169.hp1 HG02135.hp1 HG02965.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0294 a0001c0001t0001g0311 a0001c0001t0001g0348 others(1): Show a0001c0001t0001g0294 a0001c0001t0001g0311 a0001c0001t0001g0348 a0002c0002t0001g0295	4	350	0.0114	-56	c.152 others(75): Show c.152+26371_152+26426delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FTHL17_chrX_31066233_31077041	31067048	CATACACA others(49): Show CATACACACATATGTGTATATACACACACATACACACATATGTGTATATA CACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	336	0.0030	-56	c.42 others(67): Show c.4298_*4353delATGTGTGTATATACACATATGTGTGTATGTGTGT GTATATACACATATGTGTGTAT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		4184		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31067074	CACATACA others(49): Show CACATACACACATATGTGTATATACACACATATACACACATATACACACA TATGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	336	0.0030	-56	c.42 others(67): Show c.4272_*4327delACACATATGTGTGTATATGTGTGTATATGTGTGT ATATACACATATGTGTGTATGT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		4158		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31067076	CATACACA others(49): Show CATACACACATATGTGTATATACACACATATACACACATATACACACATA TGTGTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02129.hp1 HG02523.hp1 HG00423.hp2 HG02129.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	336	0.0089	-56	c.42 others(67): Show c.4270_*4325delATACACATATGTGTGTATATGTGTGTATATGTGT GTATATACACATATGTGTGTAT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		4156		chrX	TogoVar
FUNDC1_chrX_44518639_44547859	44531259	CACACACA others(49): Show CACACACACACACACACACACACACACGGCTTTCAGATGAAGATTCATGT TGGCCAG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18950.hp2 HG04204.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0223 a0001c0001t0002g0079 a0001c0001t0001g0223 a0001c0001t0002g0079	2	313	0.0064	-56	c.262 others(73): Show c.262-3950_262-3895delCTGGCCAACATGAATCTTCATCTGAAAG CCGTGTGTGTGTGTGTGTGTGTGTGTGT	FUNDC1	ENSG00000069509.6	transcript	ENST00000378045.5	protein_coding	3/4			chrX	TogoVar
FUT10_chr8_33365824_33478146	33380176	CTATATAT others(49): Show CTATATATATATACTATATATATATACTATATATATATACTATATATATA TATACTA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp2 HG06807.hp1 others(1): Show HG02257.hp2 HG02717.hp2 HG06807.hp1 NA18522.hp1	a0003 a0008 a0003 a0008	a0003c0006 a0003c0015 a0008c0013 a0003c0006 a0003c0015 a0008c0013	a0003c0006t0001 a0003c0006t0013 a0003c0015t0001 others(1): Show a0003c0006t0001 a0003c0006t0013 a0003c0015t0001 a0008c0013t0001	a0003c0006t0001g0102 a0003c0006t0013g0246 a0003c0015t0001g0040 others(1): Show a0003c0006t0001g0102 a0003c0006t0013g0246 a0003c0015t0001g0040 a0008c0013t0001g0133	4	268	0.0149	-56	c.121 others(75): Show c.1213-7428_1213-7373delTAGTATATATATATATAGTATATATA TATAGTATATATATATAGTATATATATATA	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	4/4			chr8	TogoVar
FUT8_chr14_65407730_65749121	65611184	TACACACA others(49): Show TACACACACACACACGCGCGCGCGCGCGCGCGCGCGCGCGCACACACACA CACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00735.hp1 others(8): Show HG00280.hp1 HG00438.hp2 HG00735.hp1 HG01099.hp2 HG02523.hp1 HG03041.hp2 HG03942.hp1 NA18960.hp2 NA19000.hp2 NA19012.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0023 a0001c0001t0002 a0001c0001t0022 a0001c0001t0023	a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0063 others(8): Show a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0022g0029 a0001c0001t0023g0049	11	374	0.0294	-56	c.204 others(73): Show c.204-4779_204-4724delGCGCGCGCGCGCGCGCGCGCGCGCGCAC ACACACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611199	GCGCGCGC others(49): Show GCGCGCGCGCGCGCGCGCGCGCGCGCACACACACACACACACACACACAC ACACACA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	374	0.0027	-56	c.204 others(73): Show c.204-4777_204-4722delGCGCGCGCGCGCGCGCGCGCGCGCACAC ACACACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611207	GCGCGCGC others(49): Show GCGCGCGCGCGCGCGCGCACACACACACACACACACACACACACACACAC ACACACA	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	374	0.0027	-56	c.204 others(73): Show c.204-4769_204-4714delGCGCGCGCGCGCGCGCACACACACACAC ACACACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611209	GCGCGCGC others(49): Show GCGCGCGCGCGCGCGCACACACACACACACACACACACACACACACACAC ACACACA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01496.hp2 HG02040.hp2 others(5): Show HG00733.hp1 HG01496.hp2 HG02040.hp2 HG02622.hp2 NA19000.hp1 NA19063.hp1 NA19085.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0140 others(5): Show a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0007t0001g0180	8	374	0.0214	-56	c.204 others(73): Show c.204-4767_204-4712delGCGCGCGCGCGCGCACACACACACACAC ACACACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611211	GCGCGCGC others(49): Show GCGCGCGCGCGCGCACACACACACACACACACACACACACACACACACAC ACACACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02451.hp2 others(3): Show HG01891.hp1 HG02109.hp2 HG02451.hp2 HG03130.hp2 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 others(3): Show a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0371 a0001c0001t0001g0373	6	374	0.0160	-56	c.204 others(73): Show c.204-4765_204-4710delGCGCGCGCGCGCACACACACACACACAC ACACACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FXR2_chr17_7586230_7619897	7605137	GGCGGGTG others(49): Show GGCGGGTGGATCACCTGAAGTCAGAAATTCAAGACTAGCCTGGCCAACAT GGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02258.hp1 HG02280.hp1 others(15): Show HG00639.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0026 a0001c0002t0001g0027 others(10): Show a0001c0002t0001g0017 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0038 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0117 a0001c0002t0001g0158	18	426	0.0423	-56	c.228 others(71): Show c.228+452_228+507delTTTCACCATGTTGGCCAGGCTAGTCTTGAA TTTCTGACTTCAGGTGATCCACCCGC	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	3/16			chr17	TogoVar
FYTTD1_chr3_197744883_197792596	197780100	ACCACACC others(49): Show ACCACACCTGGGGATATAGGCACACACATCAGCACACCTGGGGATACAGG CACACAC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0025 a0002c0002t0029g0025	1	256	0.0039	-56	c.858 others(73): Show c.858+1652_859-1640delTAGGCACACACATCAGCACACCTGGGGA TACAGGCACACACCCACACCTGGGGATA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
GABRG3_chr15_26966181_27546984	27306798	TACAATAT others(49): Show TACAATATAAACATGTTTATATATAAACATACAATATAAACATGTTTATA TATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG02451.hp1 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0012 a0001c0006 a0001c0012	a0001c0006t0013 a0001c0012t0003 a0001c0006t0013 a0001c0012t0003	a0001c0006t0013g0017 a0001c0012t0003g0068 a0001c0006t0013g0017 a0001c0012t0003g0068	2	92	0.0217	-56	c.271 others(75): Show c.271-20009_271-19954delCAATATAAACATGTTTATATATAAAC ATACAATATAAACATGTTTATATATAAACA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27306856	TACAATAT others(49): Show TACAATATAAACATGTTTATATATAAACATACAATATAAACATGTTTATA TATAAAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0032 a0001c0002t0029g0032	1	92	0.0109	-56	c.271 others(75): Show c.271-19951_271-19896delCAATATAAACATGTTTATATATAAAC ATACAATATAAACATGTTTATATATAAACA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27308167	TATGTTTA others(49): Show TATGTTTATATATCCAAACATATATAAACATGTTTATATATCCAAACATA TATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02922.hp1 others(5): Show HG02145.hp2 HG02809.hp2 HG02922.hp1 HG03098.hp2 HG03453.hp1 HG06807.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0002t0026 a0001c0003t0032 others(4): Show a0001c0001t0001 a0001c0002t0026 a0001c0003t0032 a0001c0005t0005 a0001c0008t0008 a0001c0009t0002 a0001c0011t0018	a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0002t0026g0070 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0002t0026g0070 a0001c0003t0032g0040 a0001c0005t0005g0037 a0001c0008t0008g0001 a0001c0009t0002g0089 a0001c0011t0018g0004	8	92	0.0870	-56	c.271 others(75): Show c.271-18611_271-18556delGTTTATATATCCAAACATATATAAAC ATGTTTATATATCCAAACATATATAAACAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRP_chr5_170778725_170819047	170802809	TTCTCTGT others(49): Show TTCTCTGTTCAGCCTCTGTTTCACATATACCATCCCCAGTGAGCGGAGGG AGCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(74): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00733.hp2 HG00738.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02155.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG04115.hp1 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18984.hp2 NA18988.hp1 NA18995.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19059.hp1 NA19065.hp2 NA19070.hp1 NA19081.hp1 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0009c0017	a0001c0001t0007 a0001c0003t0007 a0001c0003t0009 others(10): Show a0001c0001t0007 a0001c0003t0007 a0001c0003t0009 a0001c0003t0027 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0014 a0002c0002t0024 a0002c0002t0034 a0002c0004t0024 a0002c0004t0025 a0009c0017t0003	a0001c0001t0007g0166 a0001c0003t0007g0116 a0001c0003t0009g0120 others(38): Show a0001c0001t0007g0166 a0001c0003t0007g0116 a0001c0003t0009g0120 a0001c0003t0009g0121 a0001c0003t0027g0058 a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0015 a0002c0002t0003g0031 a0002c0002t0003g0033 a0002c0002t0003g0070 a0002c0002t0003g0075 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0085 a0002c0002t0003g0105 a0002c0002t0005g0002 a0002c0002t0005g0004 a0002c0002t0005g0014 a0002c0002t0005g0025 a0002c0002t0005g0029 a0002c0002t0005g0030 a0002c0002t0005g0032 a0002c0002t0005g0033 a0002c0002t0005g0052 a0002c0002t0005g0053 a0002c0002t0005g0071 a0002c0002t0005g0072 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0008g0021 a0002c0002t0008g0044 a0002c0002t0008g0167 a0002c0002t0008g0174 a0002c0002t0008g0193 a0002c0002t0014g0004 a0002c0002t0024g0087 a0002c0002t0034g0086 a0002c0004t0024g0084 a0002c0004t0025g0145 a0009c0017t0003g0002	77	362	0.2127	-56	c.542 others(73): Show c.542-2903_542-2848delCTGTTCAGCCTCTGTTTCACATATACCA TCCCCAGTGAGCGGAGGGAGCTTTCTCT	GABRP	ENSG00000094755.17	transcript	ENST00000265294.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GAS6_chr13_113815549_113869076	113858633	CTGTGTGT others(49): Show CTGTGTGTTTGTGACTGTATGTGTACATGTCTGTGTGTGCCTATGTATGC ATGTCTG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02132.hp1 HG02738.hp2 others(6): Show HG01943.hp1 HG02132.hp1 HG02738.hp2 HG03927.hp1 NA18970.hp2 NA18990.hp1 NA19058.hp2 NA19064.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 others(6): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0003t0001g0123 a0001c0004t0001g0122	9	143	0.0629	-56	c.255 others(73): Show c.255+4886_255+4941delCAGACATGCATACATAGGCACACACAGA CATGTACACATACAGTCACAAACACACA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	2/14			chr13	TogoVar
GATA5_chr20_62458497_62480995	62477042	TTTCTTTC others(49): Show TTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA19058.hp2 HG02717.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0034 a0001c0002t0003 a0001c0004t0034	a0001c0002t0003g0221 a0001c0004t0034g0276 a0001c0002t0003g0221 a0001c0004t0034g0276	2	382	0.0052	-56	c.-11 others(67): Show c.-1190_-1135delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAAGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1048		chr20	TogoVar
GDF2_chr10_47317454_47332588	47329171	ACTGGGGT others(49): Show ACTGGGGTGAGTGATGCAGTGTGTGCACACTGGGGTGAGTGATGTGGTGT GTGCACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	424	0.0024	-56	c.33 others(67): Show c.3388_*3443delCTGGGGTGAGTGATGCAGTGTGTGCACACTGGGG TGAGTGATGTGGTGTGTGCACC	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		1584		chr10	TogoVar
GDF2_chr10_47317454_47332588	47329437	GTGAGTGA others(49): Show GTGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGCGGTGTGTGCAC CCTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	424	0.0024	-56	c.36 others(67): Show c.3654_*3709delTGAGTGATGCGGTGTGTGCACACTGGGGTGAGTG ATGCGGTGTGTGCACCCTGGGA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		1850		chr10	TogoVar
GEN1_chr2_17749138_17793946	17778267	TACATATA others(49): Show TACATATATGTATATACACACACATGTGTGTGTACATATATGTATATACA CACACAC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	318	0.0031	-56	c.126 others(73): Show c.1264+205_1264+260delACATATATGTATATACACACACATGTGT GTGTACATATATGTATATACACACACAC	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13			chr2	TogoVar
GFPT2_chr5_180295698_180358336	180312050	GCAGGGAG others(49): Show GCAGGGAGGCAGGGAGGCGGGGAGGCTGAGGACCAGGGAGGCAGGGAGGC TGAGGAC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp2 NA20129.hp2 HG02647.hp1 HG02976.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0002 a0001c0017t0001 a0001c0004t0002 a0001c0017t0001	a0001c0004t0002g0258 a0001c0004t0002g0285 a0001c0017t0001g0220 a0001c0004t0002g0258 a0001c0004t0002g0285 a0001c0017t0001g0220	3	412	0.0073	-56	c.154 others(73): Show c.1546+324_1546+379delGTCCTCAGCCTCCCTGCCTCCCTGGTCC TCAGCCTCCCCGCCTCCCTGCCTCCCTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	15/18			chr5	TogoVar
GGT1_chr22_24598193_24633996	24605554	TTATATAA others(49): Show TTATATAATATTATATAATGTGTATTATATATATAATATTATATAATGTG TATTATA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02896.hp1 HG01952.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0024 a0001c0001t0001 a0002c0004t0024	a0001c0001t0001g0142 a0002c0004t0024g0262 a0001c0001t0001g0142 a0002c0004t0024g0262	2	426	0.0047	-56	c.-42 others(75): Show c.-429+2087_-429+2142delATAATATTATATAATGTGTATTATAT ATATAATATTATATAATGTGTATTATATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605614	ATAATATT others(49): Show ATAATATTATATAATGTGTATTATATATATAATATTATATAATGTGTATT ATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(66): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02148.hp2 HG02165.hp1 HG02523.hp2 HG02735.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18986.hp2 NA18994.hp1 NA18998.hp2 NA19004.hp2 NA19009.hp1 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0001c0015 others(2): Show a0001c0001 a0001c0008 a0001c0015 a0002c0002 a0003c0010	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0008t0001 a0001c0008t0028 a0001c0015t0001 a0002c0002t0001 a0003c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0046 others(64): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0174 a0001c0001t0001g0415 a0001c0001t0009g0152 a0001c0001t0009g0413 a0001c0001t0011g0112 a0001c0001t0011g0124 a0001c0008t0001g0130 a0001c0008t0001g0132 a0001c0008t0028g0131 a0001c0015t0001g0078 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0083 a0003c0010t0001g0063	69	426	0.1620	-56	c.-42 others(75): Show c.-429+2115_-429+2170delATAATATTATATAATGTGTATTATAT ATTTAATATTATATAATGTGTATTATATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605772	AATGTGTA others(49): Show AATGTGTATTATATATTATATAATATATGATGTGTATTATATATTATATA TTATATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0025 a0001c0007t0025	a0001c0007t0025g0275 a0001c0007t0025g0275	1	426	0.0024	-56	c.-42 others(75): Show c.-428-2132_-428-2077delTTATATGATGTGTATTATATATTATA TAATATATGATGTGTATTATATATTATATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT5_chr22_24214660_24250082	24238827	ATATATTT others(49): Show ATATATTTATATATATATATTATATATATTATATATATAATATATATAAT ATATATT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0254 a0001c0003t0001g0254	1	420	0.0024	-56	c.174 others(73): Show c.174-4879_174-4824delAATATATATTATATATATTATATATATA ATATATATAATATATATATATAAATATA	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11			chr22	TogoVar
GGT5_chr22_24214660_24250082	24238850	ATATATTA others(49): Show ATATATTATATATATAATATATATAATATATATTATATATTTTATATATA TATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(62): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00609.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01361.hp1 HG01515.hp1 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02135.hp2 HG02165.hp2 HG02293.hp2 HG02622.hp1 HG02735.hp1 HG02809.hp1 HG03098.hp1 HG03139.hp2 HG03239.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG04184.hp2 NA18612.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18980.hp1 NA18981.hp2 NA18986.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA19001.hp2 NA19004.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19080.hp2 NA19082.hp1 NA19087.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007 a0002c0012 a0002c0026	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0002c0012t0001 a0002c0026t0002	a0001c0001t0001g0184 a0001c0001t0001g0310 a0001c0001t0001g0312 others(56): Show a0001c0001t0001g0184 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0354 a0001c0003t0001g0026 a0001c0003t0001g0340 a0002c0002t0001g0003 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0045 a0002c0002t0001g0288 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0311 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0349 a0002c0002t0001g0352 a0002c0002t0001g0364 a0002c0002t0001g0367 a0002c0002t0002g0287 a0002c0002t0002g0291 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0313 a0002c0002t0002g0316 a0002c0002t0002g0360 a0002c0002t0002g0361 a0002c0002t0002g0362 a0002c0002t0002g0363 a0002c0002t0002g0365 a0002c0007t0001g0206 a0002c0007t0001g0348 a0002c0007t0001g0351 a0002c0012t0001g0290 a0002c0012t0001g0321 a0002c0026t0002g0306	65	420	0.1548	-56	c.174 others(73): Show c.174-4902_174-4847delATATATATATATATAAAATATATAATAT ATATTATATATATTATATATATAATATA	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11			chr22	TogoVar
GGT5_chr22_24214660_24250082	24238869	TATATAAT others(49): Show TATATAATATATATTATATATTTTATATATATATATATTATATATATTAT ATATATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01993.hp2 HG02486.hp1 others(4): Show HG01433.hp2 HG01993.hp2 HG02486.hp1 HG06807.hp1 NA18946.hp2 NA18998.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0001c0001t0001 a0001c0003t0001 a0001c0014t0001	a0001c0001t0001g0227 a0001c0001t0001g0260 a0001c0003t0001g0215 others(4): Show a0001c0001t0001g0227 a0001c0001t0001g0260 a0001c0003t0001g0215 a0001c0003t0001g0228 a0001c0003t0001g0240 a0001c0014t0001g0241 a0001c0014t0001g0242	7	420	0.0167	-56	c.174 others(73): Show c.174-4921_174-4866delTATATATATAATATATATAATATATATA TATATAAAATATATAATATATATTATAT	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11			chr22	TogoVar
GHR_chr5_42418439_42726878	42564129	AGTGTGAG others(49): Show AGTGTGAGATTTATTTGAAATCTCACAAAGTGTGAGATTTATTTGAAATC TCACAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01099.hp1 others(25): Show HG00280.hp2 HG00733.hp1 HG01099.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG02055.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG03516.hp1 HG03688.hp2 HG04228.hp2 NA19030.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0028 a0001c0004t0017 a0002c0002t0001 a0002c0002t0006 a0003c0005t0002 a0003c0005t0005 a0003c0005t0021	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0035 others(25): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0193 a0001c0001t0004g0051 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0104 a0001c0001t0028g0108 a0001c0004t0017g0053 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0158 a0002c0002t0006g0071 a0003c0005t0002g0052 a0003c0005t0005g0034 a0003c0005t0021g0032	28	210	0.1333	-56	c.-11 others(73): Show c.-11-1679_-11-1624delTGTGTGAGATTTATTTGAAATCTCACAA AGTGTGAGATTTATTTGAAATCTCACAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42564269	AGTGTGAG others(49): Show AGTGTGAGATTTATTTGAAATCTCACAAAGTGTGAGATTTATTTGAAATC TCACAAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp2 NA18522.hp1 HG03017.hp1 HG03669.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0015 a0001c0004t0017 a0001c0001t0002 a0001c0001t0015 a0001c0004t0017	a0001c0001t0002g0127 a0001c0001t0015g0093 a0001c0004t0017g0015 a0001c0001t0002g0127 a0001c0001t0015g0093 a0001c0004t0017g0015	3	210	0.0143	-56	c.-11 others(73): Show c.-11-1567_-11-1512delAGTGTGAGATTTATTTGAAATCTCACAA TGTGTGAGATTTATTTGAAATCTCACAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF2_chr2_232692331_232865605	232836263	CATATATA others(49): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATAT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0052 a0002c0001t0002g0052	1	376	0.0027	-56	c.276 others(75): Show c.2766+3182_2766+3237delTATATATATATATATATATATATATA TATATATATATATATATATATATATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836311	TATATATA others(49): Show TATATATATATATATATATACATATATATACTTATATATTTATATATATA AATATAA	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0065 a0002c0001t0002g0065	1	376	0.0027	-56	c.276 others(75): Show c.2766+3228_2766+3283delTATATATATACATATATATACTTATA TATTTATATATATAAATATAAATATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLIS1_chr1_53501239_53744164	53709349	CATATATA others(49): Show CATATATATACATATACATATATATATACATATATACATATATATACATA TACATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18944.hp1 HG00621.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0060 a0002c0006t0001g0127 a0002c0002t0001g0060 a0002c0006t0001g0127	2	236	0.0085	-56	c.259 others(75): Show c.259+28401_259+28456delATATGTATATGTATATATATGTATAT ATGTATATATATATGTATATGTATATATAT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53709357	TACATATA others(49): Show TACATATACATATATATATACATATATACATATATATACATATACATATA TATATAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0030 a0030	a0030c0039 a0030c0039	a0030c0039t0002 a0030c0039t0002	a0030c0039t0002g0140 a0030c0039t0002g0140	1	236	0.0042	-56	c.259 others(75): Show c.259+28393_259+28448delGTATATATATATGTATATGTATATAT ATGTATATATGTATATATATATGTATATGT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLOD4_chr17_754330_787280	767476	AAGAAGAA others(49): Show AAGAAGAAATCTGGAGAGGACGTAAGAGGGAGAAACAGCGCGCACTCAGA TTTTTAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02965.hp1 others(7): Show HG02572.hp1 HG02615.hp2 HG02965.hp1 HG03041.hp2 HG03486.hp1 HG03831.hp2 NA18966.hp1 NA18971.hp2 NA18994.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0215 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298	10	420	0.0238	-56	c.831 others(73): Show c.831+2337_831+2392delCTAAAAATCTGAGTGCGCGCTGTTTCTC CCTCTTACGTCCTCTCCAGATTTCTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	TTTTCTTT others(49): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 HG02976.hp2 HG01243.hp1 HG02717.hp1 HG02976.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0013 a0001c0002 a0008c0013	a0001c0002t0001 a0008c0013t0004 a0001c0002t0001 a0008c0013t0004	a0001c0002t0001g0065 a0001c0002t0001g0313 a0008c0013t0004g0312 a0001c0002t0001g0065 a0001c0002t0001g0313 a0008c0013t0004g0312	3	320	0.0094	-56	c.217 others(73): Show c.217+3344_217+3399delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971613	CCCCCCTC others(49): Show CCCCCCTCCCTCCTCCCTTCCCCCCTCCCTCCTCCCTTCCCCCCTCCCTC CTCCCTT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	320	0.0031	-56	c.880 others(75): Show c.880-11310_880-11255delTCCCTCCTCCCTTCCCCCCTCCCTCC TCCCTTCCCCCCTCCCTCCTCCCTTCCCCC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128986862	TAAGTATA others(49): Show TAAGTATACATATATACACACTATATACACACAATATAAGATATGCATAT ATGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	320	0.0031	-56	c.37 others(67): Show c.3773_*3828delAAGTATACATATATACACACTATATACACACAAT ATAAGATATGCATATATGTATA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding		1895		chr12	TogoVar
GMNC_chr3_190847737_190867694	190856219	CATTTATT others(49): Show CATTTATTTATAAATAATACTTATATTTATTTATAAATATTTATAAATAA TACTTAT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	2	488	0.0041	-56	c.385 others(71): Show c.385-360_385-305delATAAGTATTATTTATAAATATTTATAAATA AATATAAGTATTATTTATAAATAAAT	GMNC	ENSG00000205835.9	transcript	ENST00000442080.6	protein_coding	4/4			chr3	TogoVar
GNG7_chr19_2506219_2707694	2575982	GACACACA others(49): Show GACACACACATGCTCACACTCAGGTACACGCAGACATGCAGACACACACA CAGACAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00621.hp2 others(52): Show HG00099.hp1 HG00597.hp2 HG00621.hp2 HG01081.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG02040.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18952.hp1 NA18952.hp2 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0065 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0096	a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0180 others(52): Show a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0002g0093 a0001c0001t0002g0206 a0001c0001t0005g0032 a0001c0001t0005g0187 a0001c0001t0006g0136 a0001c0001t0009g0115 a0001c0001t0011g0034 a0001c0001t0012g0133 a0001c0001t0013g0041 a0001c0001t0013g0161 a0001c0001t0016g0085 a0001c0001t0017g0173 a0001c0001t0018g0014 a0001c0001t0018g0037 a0001c0001t0018g0158 a0001c0001t0019g0003 a0001c0001t0019g0128 a0001c0001t0019g0132 a0001c0001t0021g0048 a0001c0001t0024g0056 a0001c0001t0029g0069 a0001c0001t0029g0205 a0001c0001t0032g0001 a0001c0001t0034g0036 a0001c0001t0035g0012 a0001c0001t0044g0188 a0001c0001t0045g0004 a0001c0001t0048g0052 a0001c0001t0049g0054 a0001c0001t0052g0020 a0001c0001t0053g0035 a0001c0001t0055g0024 a0001c0001t0057g0171 a0001c0001t0059g0183 a0001c0001t0061g0135 a0001c0001t0062g0152 a0001c0001t0065g0021 a0001c0001t0070g0038 a0001c0001t0073g0185 a0001c0001t0074g0019 a0001c0001t0075g0159 a0001c0001t0077g0200 a0001c0001t0078g0049 a0001c0001t0080g0013 a0001c0001t0081g0009 a0001c0001t0082g0015 a0001c0001t0084g0130 a0001c0001t0086g0005 a0001c0001t0087g0007 a0001c0001t0089g0046 a0001c0001t0096g0028	55	206	0.2670	-56	c.-77 others(75): Show c.-77-20850_-77-20795delGTGTCTGTGTGTGTGTCTGCATGTCT GCGTGTACCTGAGTGTGAGCATGTGTGTGT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNPTG_chr16_1346931_1369113	1367527	CCCCCCAC others(49): Show CCCCCCACACGCTCACCTGAGTCACCTGCGGCCCTCCCTCCCTCCCCTCC CATCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	378	0.0027	-56	c.44 others(67): Show c.4437_*4492delCCCCCACACGCTCACCTGAGTCACCTGCGGCCCT CCCTCCCTCCCCTCCCATCTCA	GNPTG	ENSG00000090581.11	transcript	ENST00000204679.9	protein_coding		3415		chr16	TogoVar
GNPTG_chr16_1346931_1369113	1367550	ACCTGCGG others(49): Show ACCTGCGGCCCTCCCTCCCTCCCCTCCCATCTCACCCCCACACGCTCACC TGAGTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01891.hp2 HG02109.hp1 others(16): Show HG01099.hp1 HG01891.hp2 HG02109.hp1 HG02280.hp2 HG02523.hp2 HG02615.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp1 HG03669.hp2 HG04184.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0001c0001t0009 a0007c0005t0001 a0001c0001t0001 a0001c0001t0009 a0007c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0052 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0009g0156 a0007c0005t0001g0169	19	378	0.0503	-56	c.44 others(67): Show c.4460_*4515delCCTGCGGCCCTCCCTCCCTCCCCTCCCATCTCAC CCCCACACGCTCACCTGAGTCC	GNPTG	ENSG00000090581.11	transcript	ENST00000204679.9	protein_coding		3438		chr16	TogoVar
GOLGA6L7_chr15_28836832_28853644	28850605	CGGCACAG others(49): Show CGGCACAGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGT GGGGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0079 a0003c0003t0006g0079	1	422	0.0024	-56	c.-21 others(67): Show c.-2112_-2057delTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCAC GGTCTCCCTCTGATGCTGTGCC	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding		1962		chr15	TogoVar
GPAA1_chr8_144077634_144091216	144089559	TATATACA others(49): Show TATATACATATACATATATATATATATATGTATATACATATATATATATA TATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	-56	c.34 others(67): Show c.3435_*3490delATATACATATACATATATATATATATATGTATAT ACATATATATATATATATATAC	GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding		3344		chr8	TogoVar
GPATCH2_chr1_217421992_217636090	217527083	AATGATAT others(49): Show AATGATATAATTATTTCATTATGTATTACAATGTAATAATGATATAATTA TTTCATT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0093 a0001c0001t0027g0093	1	188	0.0053	-56	c.109 others(77): Show c.1099-12250_1099-12195delAATGAAATAATTATATCATTATTA CATTGTAATACATAATGAAATAATTATATCAT	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPC5_chr13_91393621_92872237	91674516	CATATATG others(49): Show CATATATGCGTATGTGTATATATACGCATATATATGCGTATGTGTATATA TACGCAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0038	1	42	0.0238	-56	c.326 others(75): Show c.326-18596_326-18541delATATACGCATATATATGCGTATGTGT ATATATACGCATATATATGCGTATGTGTAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92031752	TTATATTA others(49): Show TTATATTACATATTATATATAATATATAATATATTACATATTATATATAA TATATAA	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp2 HG03540.hp1 others(1): Show HG02622.hp2 HG03471.hp2 HG03540.hp1 HG06807.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0006 a0001c0001 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0004c0006t0001	a0001c0001t0001g0020 a0001c0001t0002g0042 a0003c0003t0001g0010 others(1): Show a0001c0001t0001g0020 a0001c0001t0002g0042 a0003c0003t0001g0010 a0004c0006t0001g0028	4	42	0.0952	-56	c.140 others(79): Show c.1402-113078_1402-113023delTTATATTACATATTATATATAA TATATAATATATTACATATTATATATAATATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7			chr13	TogoVar
GPC5_chr13_91393621_92872237	92527203	AAGAAAGA others(49): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	42	0.0238	-56	c.156 others(79): Show c.1562-339077_1562-339022delGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR146_chr7_1039546_1064261	1041274	ACCTGGGC others(49): Show ACCTGGGCTCCGCGCTGCGGGGAAGGGGACCTGGGGTCCGCGCTGCGGGG AAGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02723.hp2 others(3): Show HG01884.hp1 HG02257.hp1 HG02723.hp2 HG02886.hp2 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0058 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	6	434	0.0138	-56	c.-34 others(67): Show c.-3408_-3353delCCTGGGCTCCGCGCTGCGGGGAAGGGGACCTGGG GTCCGCGCTGCGGGGAAGGGGG	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding		3271		chr7	TogoVar

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