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
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCATC others(287): Show CCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0292 a0001c0003t0002g0292	1	255	0.0039	294	c.391 others(309): Show c.391+832_391+833insTCACCATCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCAC CACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP4K4_chr2_101692707_101899690	101785676	C C	CTTTTCTT others(287): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0204 a0001c0003t0004g0204	1	302	0.0033	294	c.124 others(311): Show c.124-5044_124-5043insTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32			chr2	TogoVar
METRNL_chr17_83074609_83100122	83090496	A A	ACACACAC others(287): Show ACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACCCCC CGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACAC ACACACACCCCCCGCCCCACACACACACACACCCCCCCCCCACACACACC CCGCCCCACACACACACCCCCCGCCCCACACACACACCCCCCGCCCCACA CACACACACCCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGT GGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0081 a0002c0005t0002g0081	1	381	0.0026	294	c.557 others(311): Show c.557-2664_557-2663insCCCGCCCCACACACACACCCCCCGCCCC ACACACACACCCCCCGCCCCACACACACACACCCCGCCCCACACACACAC CCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACACCCCC CCCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACA CCCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACCCCCG CCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAG GGTGGGAGCCACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(287): Show GGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAG AGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGA GGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGA GGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGG AGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGA GGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(51): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02083.hp1 HG02148.hp2 HG02486.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp2 NA18747.hp2 NA18945.hp2 NA18947.hp2 NA18964.hp2 NA18971.hp1 NA18982.hp2 NA18994.hp1 NA18995.hp1 NA19010.hp1 NA19066.hp1 NA19074.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0019 others(1): Show a0001 a0004 a0019 a0021	a0001c0001 a0001c0002 a0001c0051 others(4): Show a0001c0001 a0001c0002 a0001c0051 a0004c0006 a0004c0035 a0019c0056 a0021c0073	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0051t0001 a0004c0006t0001 a0004c0035t0001 a0019c0056t0001 a0021c0073t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(47): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0147 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0005g0210 a0001c0002t0001g0020 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0097 a0001c0002t0001g0138 a0001c0002t0001g0150 a0001c0002t0001g0179 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0194 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0207 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0237 a0001c0051t0001g0198 a0004c0006t0001g0196 a0004c0035t0001g0193 a0019c0056t0001g0049 a0021c0073t0001g0108	54	61	0.8852	294	c.641 others(309): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(287): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAA GGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	62	0.0161	294	c.225 others(311): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAG AGAGAGAAAGGGAGGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495763	G G	GGTGGAGG others(287): Show GGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGATGG AGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTG GAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGATGGAGGT AGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGG TAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGTG GTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0063 a0001c0008t0010g0063	1	114	0.0088	294	c.633 others(311): Show c.633-2468_633-2467insAGGTAGTGGTGGTGGAGATGGTGGTGGT GGAGGTGGTGGTGATGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGG TGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAG GTGGTGGTGATGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGA GATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGG AGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTG GTGGTGGAGGTAGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(287): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATGTATATATATGTATATATATGTATATATATGTAT ATATATGTGTATATATGTATATATATGTATATATATGTATATATATATGT GTATATATATGTATATATATGTATATATATATGTGTATATATATGTATAT ATATGTATATATATGTATATATATATGTATATATATGTATATATATATGT ATATATATATGTATATATATGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0054 a0004c0005t0001g0054	1	365	0.0027	294	c.484 others(309): Show c.484-660_484-659insCATATATATATACATATATATATACATATA TATACATATATATATACATATATATATACATATATATACATATATATATA CATATATATACATATATATACATATATATACACATATATATATACATATA TATACATATATATACACATATATATATACATATATATACATATATATACA TATATACACATATATATACATATATATACATATATATACATATATATACA TATATACATATATATACATATATATATACATATATATATACATATATATA TATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(287): Show TTGTATATATTATATATTGTATATATTATATATAATATATACAATATTGT ATATAATATATATAATATATACAATATTTATATATATTATATATATTATA TATAATATATACATATTATATATTATATATTATATATATACATATTATAT ATTATATATATAATATATATACATATTATATTATATATAATATATATACA TATTATATTATATATAATATATATACATATTATATTATATATAATATATA TACATATTATATATATTATATATAATATATTACATATTATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18964.hp2 HG00673.hp1 NA18964.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0168 a0003c0005t0001g0169 a0003c0005t0001g0168 a0003c0005t0001g0169	2	39	0.0513	294	c.262 others(313): Show c.2620-6178_2620-6177insTGTATATATTATATATTGTATATATT ATATATAATATATACAATATTGTATATAATATATATAATATATACAATAT TTATATATATTATATATATTATATATAATATATACATATTATATATTATA TATTATATATATACATATTATATATTATATATATAATATATATACATATT ATATTATATATAATATATATACATATTATATTATATATAATATATATACA TATTATATTATATATAATATATATACATATTATATATATTATATATAATA TATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MUC5AC_chr11_1152953_1206138	1169520	C C	CTCACTCA others(287): Show CTCACTCACCTCACTCACTGACTCAACTATTCACTCACCCATTCGCTCAC TCACTCACCTCACTCACTCGCCCACTCACCCACTCACGCTTTCACCCACT CACCTACTCACTCACCCACTCACCCATTCACCCACTCACTCACCCACTCA CCGACTCACCCATTCACCCACTCACCCACTCACTCACCCGCTCACCGACT CAACCATTCACTCACCCATTCACCCATTCACTCACTCGCCCACTCACCCA CTCACCCATTCACCCACTCACCTACTCACTCACCCACTCACCCAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0002 a0029c0039t0002	a0029c0039t0002g0045 a0029c0039t0002g0045	1	290	0.0034	294	c.187 others(311): Show c.1870+498_1870+499insTCACCTCACTCACTGACTCAACTATTCA CTCACCCATTCGCTCACTCACTCACCTCACTCACTCGCCCACTCACCCAC TCACGCTTTCACCCACTCACCTACTCACTCACCCACTCACCCATTCACCC ACTCACTCACCCACTCACCGACTCACCCATTCACCCACTCACCCACTCAC TCACCCGCTCACCGACTCAACCATTCACTCACCCATTCACCCATTCACTC ACTCGCCCACTCACCCACTCACCCATTCACCCACTCACCTACTCACTCAC CCACTCACCCATTCAC	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	15/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYT1_chr20_64159452_64247253	64175477	C C	CCTGCAGC others(287): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGCCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGCCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	203	0.0049	294	c.-99 others(313): Show c.-99+10740_-99+10741insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGCC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGCC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(287): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAG GAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAAGGAGGAGA GAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0041 a0001c0002t0075g0041	1	7	0.1429	294	c.887 others(311): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCCCTCC CTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCTTCCTCCCT CCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(287): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAG GAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAG AGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG01358.hp2 HG02896.hp1 HG02897.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0003 a0001c0002t0016 a0001c0019t0003 a0001c0002t0003 a0001c0002t0016 a0001c0019t0003	a0001c0002t0003g0069 a0001c0002t0016g0208 a0001c0002t0016g0288 others(2): Show a0001c0002t0003g0069 a0001c0002t0016g0208 a0001c0002t0016g0288 a0001c0019t0003g0062 a0001c0019t0003g0063	5	11	0.4545	294	c.887 others(311): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTCCCTCCCTCCTCCCT CCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(287): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGCGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAG GAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAG AGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp2 HG01496.hp1 HG02647.hp2	a0001 a0001	a0001c0009 a0001c0039 a0001c0009 a0001c0039	a0001c0009t0022 a0001c0039t0022 a0001c0009t0022 a0001c0039t0022	a0001c0009t0022g0344 a0001c0039t0022g0075 a0001c0009t0022g0344 a0001c0039t0022g0075	2	8	0.2500	294	c.887 others(311): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCTCCCGCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCCTCCTCCCT CCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(287): Show GGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAGGGAGGAGGGAG GCAGGAGGGCGGGAGGAGGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAG GGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGG AGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAGA GGAGGGAGGGAGGAGGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0061 a0002c0006t0006g0061	1	7	0.1429	294	c.887 others(311): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCT CCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCC TCCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCC CTCCTCCCTCCTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCCTCCTCCCT CCCTCCTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCAPG2_chr7_158626169_158709804	158667579	C C	CCTTACCC others(287): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	252	0.0040	294	c.148 others(313): Show c.1480-2830_1480-2829insCGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCKAP5_chr2_132666788_133573463	133221048	T T	TAAAAGGT others(287): Show TAAAAGGTATGAATCCTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0016 a0004c0003t0001g0016	1	69	0.0145	294	c.144 others(311): Show c.144-7270_144-7269insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AGGATTCATACCTTTT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	4/19			chr2	TogoVar
NDUFC1_chr4_139284931_139307477	139289134	A A	AAAAAAAA others(287): Show AAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	374	0.0027	294	c.97 others(303): Show c.978_*979insGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC TCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTT TTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		796		chr4	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATATGTA others(287): Show CATATGTATATATACACATATGTATATATACACATATGTATATATACACA CATATGTATATATACACACATATGTATATATACACATATGTATATATGTA TATATACACACATATGTATATATACACATATGTATATATGTATATATACA CACATATGTATATATACACATATGTATATATGTATATATACACACATATG TATATATACACATATGTATATATGTATATATACACACATATGTATATATA CACATATGTATATATGTATATATACACACATATGTATATACGTAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0025 a0001c0001t0017g0025	1	10	0.1000	294	c.409 others(311): Show c.409+6947_409+6948insATACGTATATACATATGTGTGTATATAT ACATATATACATATGTGTATATATACATATGTGTGTATATATACATATAT ACATATGTGTATATATACATATGTGTGTATATATACATATATACATATGT GTATATATACATATGTGTGTATATATACATATATACATATGTGTATATAT ACATATGTGTGTATATATACATATATACATATGTGTATATATACATATGT GTGTATATATACATATGTGTGTATATATACATATGTGTATATATACATAT GTGTATATATACATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NLGN1_chr3_173392744_174299372	174086258	C C	CATATATA others(287): Show CATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATATTTATGTA TGTGCATACATATATATATTTATGTATGTGCATAAATATATATTTATGTA TGTGCATAAATATATATATATTTATGTATGTGCATAAATATATATATATT TATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0041 a0001c0004t0007g0041	1	16	0.0625	294	c.707 others(315): Show c.707-189032_707-189031insCATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATATTTATGTA TGTGCATACATATATATATTTATGTATGTGCATAAATATATATTTATGTA TGTGCATAAATATATATATATTTATGTATGTGCATAAATATATATATATT TATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATATATA TATATTTATGTATGTGCATA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(287): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGT TACTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	2	0.5000	294	c.195 others(311): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATATAGTAACTATATTATTAATATAGTTAGTATATATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(287): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGT TAGTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(67): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG01081.hp2 HG01261.hp1 HG01261.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02273.hp2 HG02300.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG03130.hp1 HG03239.hp1 HG03669.hp2 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18982.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0013 a0014 a0016 a0019	a0001c0001 a0001c0024 a0001c0025 others(6): Show a0001c0001 a0001c0024 a0001c0025 a0003c0003 a0004c0004 a0013c0009 a0014c0011 a0016c0027 a0019c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0024t0001 a0001c0025t0001 a0003c0003t0001 a0003c0003t0008 a0004c0004t0001 a0013c0009t0001 a0014c0011t0001 a0016c0027t0001 a0019c0029t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 others(53): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0250 a0001c0001t0002g0026 a0001c0001t0002g0121 a0001c0001t0002g0143 a0001c0001t0024g0139 a0001c0024t0001g0126 a0001c0025t0001g0124 a0003c0003t0001g0106 a0003c0003t0008g0111 a0004c0004t0001g0116 a0004c0004t0001g0133 a0004c0004t0001g0141 a0013c0009t0001g0108 a0014c0011t0001g0131 a0016c0027t0001g0130 a0019c0029t0001g0132	70	71	0.9859	294	c.195 others(311): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATATACTAACTATATTATTAATATAGTTAGTATATATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(287): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTATTAATATAGT TAGTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00621.hp1 others(5): Show HG00438.hp2 HG00609.hp2 HG00621.hp1 NA18949.hp1 NA18951.hp2 NA18969.hp2 NA18983.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0102 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105	8	9	0.8889	294	c.195 others(311): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATATACTAACTATATTAATAATATAGTTAGTATATATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2961266	G G	GTTAGTAT others(287): Show GTTAGTATATTAATATATAGTAACTATATTAATATATACTAACTATATTA ATAATATAGTTAGTATATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	420	0.0024	294	c.195 others(311): Show c.195+1858_195+1859insGTATATTATTAATATAGTTACTATATAT TAATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAA CTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTA ATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACT ATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATA TATACTAACTATATTATTAATATAGTTAGTATATATTAATATAGTTACTA TATATTAATATACTAA	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GATGGTGG others(287): Show GATGGTGGGCGTGATGATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGT GGGCATGATGATGATGGGCGTGATGATGATGGGGGGGTGATGATGGGCAT GATGATGGGCGTGATGATAGGGGTGATGGTGGGGGTGATGGTGGGCGTGA TGATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGTGGGCATGATGATGA TGGGCGTGATGATGATGGGGGGTGATGATGGGCATGATGATGGGCGTGAT GATAGGGGTGATGGTGGGGGTGATGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0026 a0001c0002t0024g0026	1	117	0.0085	294	c.10 others(303): Show c.104_*105insACCCCCATCATCACGCCCACCATCACCCCCACCATC ACCCCTATCATCACGCCCATCATCATGCCCATCATCACCCCCCATCATCA TCACGCCCATCATCATCATGCCCACACCCCCATCAGGCCCACCCCCCCCA CCCCCATCATCACGCCCACCATCACCCCCACCATCACCCCTATCATCACG CCCATCATCATGCCCATCATCACCCCCCCATCATCATCACGCCCATCATC ATCATGCCCACACCCCCATCAGGCCCACCCCCCCCACCCCCATCATCACG CCCACCAT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GATGGTGG others(287): Show GATGGTGGGCGTGATGATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGT GGGCATGATGATGATGGGCGTGATGATGATGGGGGGTGATGATGGGCATG ATGATGGGCGTGATGATAGGGGTGGTGGTGGGGGTGATGGTGGGCGTGAT GATGGGGGTGGGGGGGGTGGGCCTGATGGGGTGGTGGGGCATGATGATGA TGGGCGTGATGATGATGGGGGGTGATGATGGGCATGATGATGGGCGTGAT GATAGGGGTGATGGTGGGGGTGATGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0061 a0001c0002t0059g0061	1	117	0.0085	294	c.10 others(303): Show c.104_*105insACCCCCATCATCACGCCCACCATCACCCCCACCATC ACCCCTATCATCACGCCCATCATCATGCCCATCATCACCCCCCATCATCA TCACGCCCATCATCATCATGCCCCACCACCCCATCAGGCCCACCCCCCCC ACCCCCATCATCACGCCCACCATCACCCCCACCACCACCCCTATCATCAC GCCCATCATCATGCCCATCATCACCCCCCATCATCATCACGCCCATCATC ATCATGCCCACACCCCCATCAGGCCCACCCCCCCCACCCCCATCATCACG CCCACCAT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NRXN1_chr2_49913503_51037132	50221597	A A	AAAGTTCT others(287): Show AAAGTTCTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	115	0.0087	294	c.354 others(315): Show c.3546+15191_3546+15192insCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAATTAAAGAACTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	18/22			chr2	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCCCTCC others(287): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCCACCCTCCCCCCCTCCC CTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCC TCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0174 a0001c0001t0024g0174	1	206	0.0049	294	c.433 others(311): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGA GGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGAGGAGGGGAGAG GAGAGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(287): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0084 a0001c0001t0007g0084	1	143	0.0070	294	c.-12 others(311): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCA others(287): Show TCCCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCCTTTCCCTCC CTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTC CTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCT CCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCT CCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02559.hp2 others(6): Show HG02055.hp2 HG02257.hp2 HG02559.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03486.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0003t0002 a0001c0003t0003	a0001c0001t0002g0034 a0001c0001t0003g0180 a0001c0001t0003g0184 others(5): Show a0001c0001t0002g0034 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0002t0003g0174 a0001c0002t0003g0238 a0001c0003t0002g0179 a0001c0003t0003g0178 a0001c0003t0003g0212	9	71	0.1268	294	c.-15 others(305): Show c.-1513_-1512insCCCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTC CTCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCC CTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTC CCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTC CCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCT TCCCTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCA others(287): Show TCCCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCCTTTCCCTCC CTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTC CTCCTCCCTTCCATCCCTTCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCT CCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCT CCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0183 a0001c0002t0003g0183	1	63	0.0159	294	c.-15 others(305): Show c.-1513_-1512insCCCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTC CTCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCC CTCCCTCCTCCTTTCCTCCTCCCTTCCATCCCTTCCTCCTTCCCTCCCTC CCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTC CCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCT TCCCTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
PACSIN2_chr22_42864773_43020149	42981406	G G	GCCTCTGC others(287): Show GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGTCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCC GTGCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGA GGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0175 a0001c0001t0006g0175	1	292	0.0034	294	c.-78 others(313): Show c.-78+33614_-78+33615insAGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGG CGCCCCTCACCTCCCGCACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGG	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(287): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCT CCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCC TCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCACTC CCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0008 a0007c0012t0008	a0007c0012t0008g0240 a0007c0012t0008g0240	1	68	0.0147	294	c.226 others(313): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCT CCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTC CTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTC CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCDH7_chr4_30715369_31151800	30921813	G G	GGCCGGGC others(287): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAAACTAGCCGGGCGTAGTGG CGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCCTCCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	214	0.0047	294	c.339 others(313): Show c.3391+1444_3391+1445insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAACTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCTCCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2			chr4	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(287): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAA TCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCC ATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCT CCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	91	0.0110	294	c.36 others(305): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCCTGCACCTCCCCCCCTCACC CTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCC ACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACC TCCCGCCCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDE9A_chr21_42648621_42780509	42700318	T T	TAAAGTAC others(287): Show TAAAGTACAAGTATTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	322	0.0031	294	c.262 others(311): Show c.262+1323_262+1324insGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGTACAAGTATTGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIWIL1_chr12_130332887_130377637	130338277	G G	GGATGCAG others(287): Show GGATGCAGGAGCCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGG TGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGG CGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCC CAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCG GGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01099.hp1 others(34): Show HG00609.hp2 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01361.hp1 HG01433.hp2 HG01975.hp2 HG02015.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03017.hp2 HG03490.hp2 HG03654.hp1 HG04184.hp2 HG04228.hp1 NA18943.hp1 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp2 NA19004.hp1 NA19012.hp2 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19080.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 others(5): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0051	a0001c0001t0004g0008 a0001c0001t0004g0044 a0001c0001t0004g0259 others(27): Show a0001c0001t0004g0008 a0001c0001t0004g0044 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0264 a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0004g0272 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0004g0282 a0001c0001t0007g0008 a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0267 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0007g0273 a0001c0001t0007g0278 a0001c0001t0007g0279 a0001c0001t0019g0005 a0001c0001t0019g0274 a0001c0001t0019g0280 a0001c0001t0020g0265 a0001c0001t0021g0005 a0001c0001t0021g0271 a0001c0001t0022g0008 a0001c0001t0029g0281 a0001c0001t0051g0276	37	283	0.1307	294	c.-13 others(309): Show c.-13+143_-13+144insAGATGCGGTGGCGAGGTCGCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGG AGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGAT GCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTC GAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCC AGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGG GAGATGCAGGAGCC	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338525	C C	CGGGGGAT others(287): Show CGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGGGAT GCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGC CGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCG GTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAG GTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGG TGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01069.hp2 others(4): Show HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01106.hp1 HG01168.hp2 HG01978.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0001t0004 a0001c0001t0007 a0001c0001t0020	a0001c0001t0004g0038 a0001c0001t0004g0241 a0001c0001t0004g0242 others(3): Show a0001c0001t0004g0038 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0007g0038 a0001c0001t0020g0039	7	321	0.0218	294	c.-13 others(309): Show c.-13+382_-13+383insGGATGCAGGAGCCGGGTGCGGGGGCGAGGT CCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTG CGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGAT GCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGC CGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCG GGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAG GTCCCAGGTGTGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PJA2_chr5_109329722_109414974	109354509	T T	TATAGATT others(287): Show TATAGATTGGATATCTATATCTAGAGATATCTATAGATTAGATATCTATG ATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCT ATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGATATCTA TAGATTAGATATCTATGATATCTAGAGATATCTATAGATTCGATATCTAT GATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0285 a0003c0003t0002g0285	1	245	0.0041	294	c.176 others(313): Show c.1764+1405_1764+1406insCTCTAGATATCATAGATATCTAATCT ATAGATATCTCTAGATATCATAGATATCGAATCTATAGATATCTCTAGAT ATCATAGATATCTAATCTATAGATATCTCTAGATATAGATATCCAATCTA TAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATA TCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATC TATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGA TATAGATATCCAATCTAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(287): Show GCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCT CACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0027 a0001c0004t0001g0027	1	190	0.0053	294	c.173 others(311): Show c.1737+861_1737+862insCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACCCCCGGCCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCG CTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GGCCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLCXD1_chrX_276381_308356	297119	T T	TCTGTCTA others(287): Show TCTGTCTATCACATGGGGATCAGGACGTGGACATCTTTGGGGCCATTATT CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCT GTCTATCACATGGGGATCAGGACGTGGACATCTTTGGGGACATTATCCTG TCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGT CTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0091 a0001c0001t0011g0091	1	154	0.0065	294	c.734 others(311): Show c.734-1959_734-1958insCAGGACGTGGACATCTTTGGGGCCATTA TTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTAT TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATT CTGTCTATCACATGGGGATCAGGACGTGGACATCTTTGGGGACATTATCC TGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCT GTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATCCTG TCTATCACATGGGGAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297617	C C	CCACATGG others(287): Show CCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCC ACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTATCA CATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCAC ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACA TGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0077 a0001c0003t0077	a0001c0003t0077g0164 a0001c0003t0077g0164	1	151	0.0066	294	c.734 others(311): Show c.734-1348_734-1055dupCTGTTATTCTGTCTATCACATGGGGATT AGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTA GGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGG ACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGA CGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGGATTAGGAC GTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298550	A A	ACATGGGG others(287): Show ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCA CATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCAC ATGGGTATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCTCA TGGGGATTAGGACGTGGACATCTTTGGGGACATTATCCTGTCTACCTCAT GGGGATTAGGACGTGGACATCTTTGGGGACATTATCCTGTCTATCACATG GGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCCACCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp2 HG02886.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0011 a0001c0003 a0006c0011	a0001c0003t0027 a0006c0011t0102 a0001c0003t0027 a0006c0011t0102	a0001c0003t0027g0015 a0001c0003t0027g0016 a0006c0011t0102g0017 a0001c0003t0027g0015 a0001c0003t0027g0016 a0006c0011t0102g0017	3	174	0.0172	294	c.734 others(309): Show c.734-516_734-515insACATTATTCTGTCTCCCACATGGGGATTAG GACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGTATTAGG ACGTGGACATCTTTGGGGACATTATTCTGTCTACCTCATGGGGATTAGGA CGTGGACATCTTTGGGGACATTATCCTGTCTACCTCATGGGGATTAGGAC GTGGACATCTTTGGGGACATTATCCTGTCTATCACATGGGGATTAGGACG TGGACATCTTTGGGGACATTATTCTGTCCACCTCATGGGGATTAGGACGT GGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLPPR1_chr9_101023727_101330135	101285287	T T	TAAGATGT others(287): Show TAAGATGTAGTCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0137 a0001c0002t0003g0137	1	199	0.0050	294	c.253 others(309): Show c.253-802_253-801insTAATCCCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AGATGTAGTCCCTG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137466844	C C	CCTCAGAC others(287): Show CCTCAGACCCGGGCACGGATCTGACCACCTCCCACCACCGTCTCCATCAC CTCAGACCCGGGCACGGATCTGACCACCTCCCACCACCATCTCCACCAAC TCAGACCCGGGCACGGATCAGACCGCCTCCCACCACCGTCTCCACCAACT CAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCATCACCTC AGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAACTCA GACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	69	0.0145	294	c.303 others(311): Show c.3039+472_3039+473insTTGGTGGAGACGGTGGTGGGAGGTGGTC TGATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGTGGTCT GATCCGTGCCCGGGTCTGAGGTGATGGAGACGGTGGTGGGAGGTGGTCTG ATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGCGGTCTGA TCCGTGCCCGGGTCTGAGTTGGTGGAGATGGTGGTGGGAGGTGGTCAGAT CCGTGCCCGGGTCTGAGGTGATGGAGACGGTGGTGGGAGGTGGTCAGATC CGTGCCCGGGTCTGAG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	26/34			chr9	TogoVar
POLR3G_chr5_90469864_90519557	90493017	A A	AAAAGAAC others(287): Show AAAAGAACCAGAGGAAATTATAAGTTAGAACCTATTAAAGATGTCTTTGG AATCTGGGATCGGGACGTACAGAAGGCATATATTCTAGGTTTGTATGTGG CAGCCGATGCACAGAAAACTGCAAGACTCCGCCTCAAAAAAAAAAAAAAA AGTATGAGACATCAAAGTTTTTTAAAGTATTGCATTTTGGATATGTAAGT ACAAGAAGAAGAATTGGAAGTAGTGATAAGCTAGATTCTACTAGAAATGC ATTTATAATCTGAAATTATTTAGATGATACACATATGAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(89): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02970.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03834.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033	a0001c0001t0002g0299 a0001c0001t0003g0001 a0001c0001t0003g0008 others(71): Show a0001c0001t0002g0299 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0092 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0190 a0001c0001t0003g0243 a0001c0001t0004g0002 a0001c0001t0004g0023 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0218 a0001c0001t0004g0224 a0001c0001t0004g0238 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0302 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0314 a0001c0001t0005g0162 a0001c0001t0006g0303 a0001c0001t0008g0028 a0001c0001t0008g0165 a0001c0001t0008g0166 a0001c0001t0008g0181 a0001c0001t0008g0212 a0001c0001t0008g0249 a0001c0001t0009g0013 a0001c0001t0009g0085 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0091 a0001c0001t0009g0095 a0001c0001t0009g0118 a0001c0001t0009g0219 a0001c0001t0009g0309 a0001c0001t0009g0312 a0001c0001t0015g0164 a0001c0001t0015g0167 a0001c0001t0016g0193 a0001c0001t0017g0183 a0001c0001t0017g0184 a0001c0001t0017g0185 a0001c0001t0024g0315 a0001c0001t0024g0316 a0001c0001t0025g0101 a0001c0001t0033g0001	92	213	0.4319	294	c.248 others(311): Show c.248-2658_248-2657insAGAACCAGAGGAAATTATAAGTTAGAAC CTATTAAAGATGTCTTTGGAATCTGGGATCGGGACGTACAGAAGGCATAT ATTCTAGGTTTGTATGTGGCAGCCGATGCACAGAAAACTGCAAGACTCCG CCTCAAAAAAAAAAAAAAAAGTATGAGACATCAAAGTTTTTTAAAGTATT GCATTTTGGATATGTAAGTACAAGAAGAAGAATTGGAAGTAGTGATAAGC TAGATTCTACTAGAAATGCATTTATAATCTGAAATTATTTAGATGATACA CATATGAGAAAAAGAA	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM15_chr21_41793225_41884344	41865114	A A	ATGCCTGC others(287): Show ATGCCTGCTCACTCCTCAGTCCCCACTCCCCACTCCCCGGCTCACTCCTC ACTCCCCTGCTCACTCCTCACTCCCCAGCCCTCTCTGCCATGCCTGCTCA CTCCTCAGTCCCCACTCCCCACTCCCCGGCTCACTCCTCACTCCCCTGCT CACTCCTCACTCCCCAGCCCTCTCTGCAATGCCCGCTCACTCCTCAGTCC CCACTCCCCACTCCCCTGCTCAGTCCTCACTCCCCAGCCCTCTCTGCAAG TTCCCACTCCCCTGCTCACTCCTCACTCCCCAGCCCTCTCTGCCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0125 a0001c0005t0006g0125	1	389	0.0026	294	c.-9- others(309): Show c.-9-4743_-9-4742insCGGCAGAGAGGGCTGGGGAGTGAGGAGTGA GCAGGGGAGTGGGAACTTGCAGAGAGGGCTGGGGAGTGAGGACTGAGCAG GGGAGTGGGGAGTGGGGACTGAGGAGTGAGCGGGCATTGCAGAGAGGGCT GGGGAGTGAGGAGTGAGCAGGGGAGTGAGGAGTGAGCCGGGGAGTGGGGA GTGGGGACTGAGGAGTGAGCAGGCATGGCAGAGAGGGCTGGGGAGTGAGG AGTGAGCAGGGGAGTGAGGAGTGAGCCGGGGAGTGGGGAGTGGGGACTGA GGAGTGAGCAGGCA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	1/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3379552	A A	ACACACCC others(287): Show ACACACCCCTCCCAACACACCCCTCCCAACTCACCCCTCCCAACACACCC CTCCCAGCACACCCCTCCCAGCACACCCCTCCCAAAACACCCCTCCCAAC ACACCCCTCCCAGCACACCTCTCCCAGCACACCCCTCCCAACACACTCAT CCCAACACAGTCCTCCCAGCACACCCCTCCCAACACACCCCTCCCAACAC ACCCCTCCCAGCACACCCCTCCCAACACACCCCTCCCAGCACACCCCTCC CAGCACACCCCTCCCAGCACACCCCTCCCAACACACCCCTCCCAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	203	0.0049	294	c.439 others(311): Show c.439-5587_439-5586insACACACCCCTCCCAACTCACCCCTCCCA ACACACCCCTCCCAGCACACCCCTCCCAGCACACCCCTCCCAAAACACCC CTCCCAACACACCCCTCCCAGCACACCTCTCCCAGCACACCCCTCCCAAC ACACTCATCCCAACACAGTCCTCCCAGCACACCCCTCCCAACACACCCCT CCCAACACACCCCTCCCAGCACACCCCTCCCAACACACCCCTCCCAGCAC ACCCCTCCCAGCACACCCCTCCCAGCACACCCCTCCCAACACACCCCTCC CAGCACACCCCTCCCA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106685	C C	CTTCAGCA others(287): Show CTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGC GAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTC CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	238	0.0042	294	c.335 others(313): Show c.335-28576_335-28575insTCAGCAGGCCCCTCTGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGC CCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCT TCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCA GGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCA CCAGGCCAGGTGACTCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106743	C C	CTTCAGCA others(287): Show CTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGC CAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGC GAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTC CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	173	0.0058	294	c.335 others(313): Show c.335-28518_335-28517insTCAGCAAGCCCCTCTGGTGGGCGAGG ACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGC CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT TCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCA GGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCA CCAGGCCAGGTGACTCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113161882	G G	GTCCCCAC others(287): Show GTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp1 HG01109.hp2 others(6): Show HG00733.hp2 HG01081.hp1 HG01109.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01516.hp1 HG04204.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0034 a0001c0001t0001g0086 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0165 a0001c0001t0001g0166 a0002c0003t0001g0019	9	280	0.0321	294	c.259 others(309): Show c.259+951_259+952insGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC TCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar

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